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
ISM2	145501	broad.mit.edu	37	14	77944926	77944926	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:77944926G>A	uc001xtz.3	-	4	1180	c.1106C>T	c.(1105-1107)tCc>tTc	p.S369F	ISM2_uc001xua.3_Missense_Mutation_p.P254S|ISM2_uc001xty.3_Missense_Mutation_p.S281F	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	369	TSP type-1.					extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						ACCAGGACAGGAGGGCAGGTC	0.637000														44			6		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1507825	1507825	+	Nonsense_Mutation	SNP	T	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:1507825T>A	uc002qwr.3	+	13	2578	c.2492T>A	c.(2491-2493)tTa>tAa	p.L831*	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Nonsense_Mutation_p.L831*|TPO_uc002qwx.3_Nonsense_Mutation_p.L774*|TPO_uc002qwu.3_Nonsense_Mutation_p.L774*|TPO_uc010yio.2_Nonsense_Mutation_p.L658*|TPO_uc010yip.2_Intron|TPO_uc002qwy.1_Intron|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	831	EGF-like; calcium-binding (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCCTACGAGTTAGGAGACGAT	0.557000														80			5		0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47109315	47109315	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:47109315C>T	uc002iom.3	+	4	715	c.381C>T	c.(379-381)tcC>tcT	p.S127S	IGF2BP1_uc010dbj.3_Silent_p.S127S	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	127	RRM 2.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCACCTATTCCAACCGGGAGC	0.577000											OREG0024529	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		161			13		0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56310002	56310002	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:56310002C>T	uc010rjl.2	-	0	732	c.732G>A	c.(730-732)atG>atA	p.M244I	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TGACAGCCATCATATGGGAAC	0.448000														84			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179477270	179477270	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179477270A>G	uc021vsy.1	-	214	42503	c.42278T>C	c.(42277-42279)aTt>aCt	p.I14093T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I7788T|TTN_uc021vta.1_Missense_Mutation_p.I7721T|TTN_uc021vtb.1_Missense_Mutation_p.I7596T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15020	Fibronectin type-III 1.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGATATTAATAACTTCAAG	0.398000														26			3		0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	123868582	123868582	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:123868582G>A	uc003iez.4	+	8	1726	c.1653G>A	c.(1651-1653)caG>caA	p.Q551Q	SPATA5_uc003iey.3_Silent_p.Q550Q	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	Homo sapiens spermatogenesis associated 5 (SPATA5), mRNA.	551					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AGCTGCTGCAGCTGGCAAATA	0.483000														108			7		0	0	1	0	0
NKG7	4818	broad.mit.edu	37	19	51875529	51875529	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:51875529T>G	uc002pwj.3	-	1	361	c.190A>C	c.(190-192)Atg>Ctg	p.M64L	NKG7_uc002pwk.3_Intron	NM_005601	NP_005592	Q16617	NKG7_HUMAN	Homo sapiens natural killer cell group 7 sequence (NKG7), mRNA.	64						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGAACAGCCATAATGCTGAAG	0.622000														159			8		0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823733	38823733	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:38823733G>A	uc003avs.1	-	1	502	c.405C>T	c.(403-405)atC>atT	p.I135I	KCNJ4_uc003avt.1_Silent_p.I135I|KCNJ4_uc021wpp.1_Silent_p.I135I	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	135					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					ACCCATAGCCGATGGTCGTCT	0.637000														89			14		0	0	1	0	0
BEND4	389206	broad.mit.edu	37	4	42145871	42145871	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:42145871C>T	uc003gwn.3	-	2	1208	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	BEND4_uc003gwm.3_Missense_Mutation_p.E210K|BEND4_uc011byy.1_Missense_Mutation_p.E210K	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA.	210								p.E206K(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TCCTGTCTTTCGTTGTAACTT	0.443000														35			5		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140946615	140946615	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:140946615C>T	uc004cog.3	+	24	3927	c.3782C>T	c.(3781-3783)aCc>aTc	p.T1261I	CACNA1B_uc022bqn.1_Missense_Mutation_p.T1261I|CACNA1B_uc011mfd.2_Missense_Mutation_p.T862I|CACNA1B_uc004coi.3_Missense_Mutation_p.T475I	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1261					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)	CCCCTCAAGACCATCAAACGG	0.537000														13			3		0	0	1	0	0
SAMD14	201191	broad.mit.edu	37	17	48191659	48191659	+	Silent	SNP	C	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:48191659C>A	uc002iqf.3	-	8	1217	c.918G>T	c.(916-918)ctG>ctT	p.L306L	SAMD14_uc002iqe.3_Silent_p.L61L|SAMD14_uc002iqg.3_Silent_p.L278L	NM_174920	NP_777580	Q8IZD0	SAM14_HUMAN	Homo sapiens sterile alpha motif domain containing 14 (SAMD14), mRNA.	278										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						AGTCATCACTCAGAGTGGATT	0.582000														46			6		0.00116845	0.00117578	1	1	0
KRT6B	3854	broad.mit.edu	37	12	52845835	52845835	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:52845835T>C	uc001sak.3	-	0	76	c.28A>G	c.(28-30)Agc>Ggc	p.S10G		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	10	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CTGCTGTGGCTCCTGATGGTG	0.642000														49			5		0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100349710	100349710	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:100349710C>T	uc003huv.2	-	2	475	c.234G>A	c.(232-234)gtG>gtA	p.V78V	ADH7_uc021xqj.1_Silent_p.V86V	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	78					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	CCTCATGTCCCACAATCACTG	0.418000														145			8		0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76471257	76471257	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:76471257G>A	uc003yaq.3	+	8	1237	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	HNF4G_uc003yar.3_Missense_Mutation_p.E360K	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	323					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TCTACTTCAGGAAATGCTATT	0.338000														79			7		0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039441	248039441	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:248039441G>A	uc001ido.3	+	5	1159	c.1111G>A	c.(1111-1113)Ggg>Agg	p.G371R	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	371	B30.2/SPRY.					intracellular	zinc ion binding	p.K370*(1)|p.K370R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCCAAGAAAGGGGGAAACCAC	0.557000														111			25		0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131222107	131222107	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:131222107G>A	uc003qch.2	-	6	1325	c.1143C>T	c.(1141-1143)acC>acT	p.T381T	EPB41L2_uc010kfl.2_Silent_p.T381T|EPB41L2_uc003qcg.1_Silent_p.T381T|EPB41L2_uc003qci.3_Silent_p.T381T|EPB41L2_uc011eby.2_Silent_p.T381T|EPB41L2_uc010kfk.2_Silent_p.T381T	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	381	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CAGACCTGTGGGTTTTGTGCA	0.468000														185			22		0	0	1	0	0
ADPRH	141	broad.mit.edu	37	3	119301104	119301104	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:119301104G>T	uc003ecs.3	+	2	386	c.88G>T	c.(88-90)Ggg>Tgg	p.G30W	ADPRH_uc010hqv.3_Missense_Mutation_p.G30W|ADPRH_uc011bjb.2_Intron|ADPRH_uc003ect.3_Missense_Mutation_p.G30W	NM_001125	NP_001116	P54922	ADPRH_HUMAN	Homo sapiens ADP-ribosylarginine hydrolase (ADPRH), mRNA.	30					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		CCTCCAGGATGGGGAGAAGAT	0.572000														67			14		1.49906e-05	1.51693e-05	1	1	0
ZNF536	9745	broad.mit.edu	37	19	30934636	30934637	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:30934636_30934637CC>TT	uc002nsu.1	+	1	305_306	c.167_168CC>TT	c.(166-168)ccc>cTT	p.P56L	ZNF536_uc010edd.1_Missense_Mutation_p.P56L	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.P56A(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGGCCCAACCCCGAGGAGAAGC	0.678000														89			8		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103143606	103143606	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:103143606G>A	uc022ajr.1	-	51	8506	c.8346C>T	c.(8344-8346)ttC>ttT	p.F2782F	RELN_uc022ajq.1_Silent_p.F2782F|RELN_uc010liz.3_Silent_p.F2782F	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2782					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.F2782L(2)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AACTCACACCGAAGTCAGTAG	0.408000														109			9		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23902781	23902781	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:23902781C>T	uc001wjx.3	-	2	267	c.161G>A	c.(160-162)cGa>cAa	p.R54Q		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	54	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCCACCCTCTCGAGACACGAT	0.562000														95			18		0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29759031	29759031	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:29759031C>T	uc003afj.3	-	2	289	c.102G>A	c.(100-102)gtG>gtA	p.V34V	AP1B1_uc003afl.3_Silent_p.V34V|AP1B1_uc003afi.3_Silent_p.V34V	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	34					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCACTTTCTTCACTGCCTCCT	0.532000														180			10		0	0	1	0	0
CHMP2B	25978	broad.mit.edu	37	3	87289879	87289879	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:87289879G>A	uc003dqp.4	+	1	325	c.65G>A	c.(64-66)cGa>cAa	p.R22Q	CHMP2B_uc011bgn.2_Intron	NM_014043	NP_054762	Q9UQN3	CHM2B_HUMAN	Homo sapiens charged multivesicular body protein 2B (CHMP2B), transcript variant 1, mRNA.	22					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding			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)		CGAGAGTTACGAGGTACACAG	0.323000														89			5		0	0	1	0	0
TYRP1	7306	broad.mit.edu	37	9	12704573	12704573	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:12704573C>A	uc003zkv.4	+	5	1307	c.1129C>A	c.(1129-1131)Cac>Aac	p.H377N		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	377					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TCGAAGTCTTCACAATTTGGC	0.428000									Oculocutaneous Albinism					74			13		7.03913e-09	7.15314e-09	1	1	0
SLC17A5	26503	broad.mit.edu	37	6	74310152	74310152	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:74310152G>A	uc003phn.4	-	9	1400	c.1272C>T	c.(1270-1272)atC>atT	p.I424I	SLC17A5_uc010kax.3_Silent_p.I83I|SLC17A5_uc010kay.3_Non-coding_Transcript|SLC17A5_uc011dyo.1_Missense_Mutation_p.S244F	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN	Homo sapiens solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5), mRNA.	424					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCCCAGGAGGATACCAGCAT	0.353000														35			3		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151154954	151154954	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:151154954T>A	uc011bod.2	-	5	7395	c.7395A>T	c.(7393-7395)aaA>aaT	p.K2465N	IGSF10_uc011bob.2_Missense_Mutation_p.K492N|IGSF10_uc011boc.2_Missense_Mutation_p.K444N	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2465	Ig-like C2-type 11.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCATAGTCCATTTGATATTTG	0.403000														218			16		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53092782	53092782	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:53092782C>T	uc003xqz.2	-	3	333	c.177G>A	c.(175-177)atG>atA	p.M59I	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.M24I|ST18_uc011lds.1_5'UTR|ST18_uc003xra.2_Missense_Mutation_p.M59I|ST18_uc003xrb.2_Missense_Mutation_p.M59I|ST18_uc010lyb.2_Non-coding_Transcript	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	59						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GTCGGGGCTTCATTAGCAGGG	0.512000														171			23		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179444336	179444336	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179444336C>T	uc021vsy.1	-	267	60109	c.59884G>A	c.(59884-59886)Gga>Aga	p.G19962R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G13657R|TTN_uc021vta.1_Missense_Mutation_p.G13590R|TTN_uc021vtb.1_Missense_Mutation_p.G13465R|AX746670_uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20889	Fibronectin type-III 44.						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)			GTTCCTTCTCCATTTTCATTC	0.423000														153			30		0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82643812	82643812	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:82643812G>A	uc001ozt.3	+	5	1676	c.1432G>A	c.(1432-1434)Gct>Act	p.A478T	C11orf82_uc010rsr.2_Missense_Mutation_p.A177T|C11orf82_uc010rss.2_Missense_Mutation_p.A177T|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	478					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ACCACCTATAGCTTTAAGATC	0.393000														74			4		0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	54049986	54049986	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:54049986G>A	uc001jjm.3	+	16	2081	c.1853G>A	c.(1852-1854)tGg>tAg	p.W618*	PRKG1_uc001jjo.3_Nonsense_Mutation_p.W633*|PRKG1_uc009xow.2_Nonsense_Mutation_p.W336*|LOC100506939_uc021pqu.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	618	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.R617K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TTTTCTAGATGGTTTGAGGGC	0.378000														83			7		0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130343218	130343218	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:130343218C>T	uc010scd.2	+	7	2355	c.2355C>T	c.(2353-2355)tcC>tcT	p.S785S		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	785	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		AGGTCCTCTCCGTGGGGAAGA	0.667000														146			6		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262531	45262531	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:45262531G>A	uc003jok.3	-	7	2190	c.2165C>T	c.(2164-2166)cCc>cTc	p.P722L		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	722						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.P722S(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGAGGCGGTGGGGGAGGCATA	0.657000														43			13		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55955448	55955448	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:55955448C>T	uc010qhy.1	-	11	1710	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K	PCDH15_uc010qhq.2_Missense_Mutation_p.E439K|PCDH15_uc010qhr.2_Missense_Mutation_p.E434K|PCDH15_uc021pqv.1_Missense_Mutation_p.E434K|PCDH15_uc021pqw.1_Missense_Mutation_p.E439K|PCDH15_uc010qht.2_Missense_Mutation_p.E434K|PCDH15_uc021pqx.1_Missense_Mutation_p.E434K|PCDH15_uc001jjv.1_Missense_Mutation_p.E412K|PCDH15_uc021pqy.1_Missense_Mutation_p.E434K|PCDH15_uc021pqz.1_Missense_Mutation_p.E412K|PCDH15_uc010qhv.1_Missense_Mutation_p.E434K|PCDH15_uc010qhw.1_Missense_Mutation_p.E397K|PCDH15_uc010qhx.1_Missense_Mutation_p.E434K|PCDH15_uc010qhz.1_Missense_Mutation_p.E434K|PCDH15_uc010qia.1_Missense_Mutation_p.E412K|PCDH15_uc001jju.1_Missense_Mutation_p.E434K|PCDH15_uc010qib.1_Missense_Mutation_p.E412K|PCDH15_uc001jjw.3_Missense_Mutation_p.E434K	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	434	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTACATCTTCTATGTCCTTG	0.373000										HNSCC(58;0.16)				67			6		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179433317	179433317	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179433317C>T	uc021vsy.1	-	274	70063	c.69838G>A	c.(69838-69840)Gat>Aat	p.D23280N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D16975N|TTN_uc021vta.1_Missense_Mutation_p.D16908N|TTN_uc021vtb.1_Missense_Mutation_p.D16783N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24207	Fibronectin type-III 69.						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)			TCCAGTGAATCGGTAACATTG	0.423000														115			23		0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130761731	130761731	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:130761731C>T	uc003ysr.3	-	12	2136	c.1254G>A	c.(1252-1254)atG>atA	p.M418I		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	418						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						TCCTCTTCTCCATGGAACAGG	0.522000														69			7		0	0	1	0	0
SYNPO	11346	broad.mit.edu	37	5	150028702	150028702	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:150028702A>C	uc003lsn.3	+	2	1971	c.1597A>C	c.(1597-1599)Atg>Ctg	p.M533L	SYNPO_uc021yfu.1_Missense_Mutation_p.M533L|SYNPO_uc003lso.4_Missense_Mutation_p.M289L|SYNPO_uc003lsp.3_Missense_Mutation_p.M289L|SYNPO_uc021yfv.1_Missense_Mutation_p.M289L	NM_001166208	NP_001159681	Q8N3V7	SYNPO_HUMAN	Homo sapiens synaptopodin (SYNPO), transcript variant 3, mRNA.	533					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGACACATAATGTCCCGCAG	0.642000														54			7		0	0	1	0	0
FCAMR	83953	broad.mit.edu	37	1	207139168	207139168	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:207139168G>A	uc001hfa.4	-	3	705	c.205C>T	c.(205-207)Ccg>Tcg	p.P69S	FCAMR_uc001hfb.3_Missense_Mutation_p.P69S|FCAMR_uc009xca.2_Missense_Mutation_p.P69S|FCAMR_uc021pig.1_5'UTR	NM_001170631	NP_001164102	Q8WWV6	FCAMR_HUMAN	Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA.	24	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						AGCCATCTCGGATGGGGTCTT	0.602000														51			11		0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27551026	27551026	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:27551026G>A	uc002rju.1	-	16	2717	c.2320C>T	c.(2320-2322)Cag>Tag	p.Q774*	MPV17_uc002rjt.3_5'Flank|GTF3C2_uc010eyy.1_Nonsense_Mutation_p.Q218*|GTF3C2_uc002rjv.1_Nonsense_Mutation_p.Q763*|GTF3C2_uc002rjw.1_Nonsense_Mutation_p.Q763*	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 2, beta 110kDa (GTF3C2), transcript variant 1, mRNA.	763						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACTGTCCTGATACGGTATC	0.433000														72			7		0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222428816	222428816	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:222428816C>T	uc002vmq.3	-	2	500	c.458G>A	c.(457-459)aGc>aAc	p.S153N	EPHA4_uc002vmr.2_Missense_Mutation_p.S153N|EPHA4_uc010zlm.1_Missense_Mutation_p.S94N	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	153						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TTGGGTGAAGCTCTCATCAGC	0.448000														183			25		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179474630	179474630	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179474630C>T	uc021vsy.1	-	220	44041	c.43816G>A	c.(43816-43818)Gat>Aat	p.D14606N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D8301N|TTN_uc021vta.1_Missense_Mutation_p.D8234N|TTN_uc021vtb.1_Missense_Mutation_p.D8109N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15533	Fibronectin type-III 5.						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)			CTCCCTCCATCATACAAAGGT	0.443000														331			30		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872133	51872133	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:51872133C>T	uc002xwo.3	+	1	3023	c.2136C>T	c.(2134-2136)ccC>ccT	p.P712P	TSHZ2_uc021wex.1_Silent_p.P709P	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	712					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CCACGGAGCCCTTGCGCTCAC	0.592000														77			5		0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3324333	3324333	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:3324333T>G	uc002wii.2	-	8	886	c.835A>C	c.(835-837)Act>Cct	p.T279P	C20orf194_uc002wij.3_5'Flank|C20orf194_uc002wik.2_Intron|C20orf194_uc010gay.1_Non-coding_Transcript	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.	279										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CTGTTTTCAGTTATATGGCTA	0.393000														401			30		0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43689022	43689023	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:43689022_43689023CC>AT	uc002ovu.3	-	1	472_473	c.341_342GG>AT	c.(340-342)cgg>cAT	p.R114H	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.R114H	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	114	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CTGCGTCTTCCCGGGTGACATT	0.436000														478			47		0	0	1	0	0
NTF3	4908	broad.mit.edu	37	12	5604142	5604142	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:5604142C>T	uc001qnl.4	+	0	845	c.762C>T	c.(760-762)atC>atT	p.I254I	NTF3_uc001qnk.4_Silent_p.I267I	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	254					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CGAGAAAAATCGGAAGAACAT	0.368000														31			9		0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38087037	38087037	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:38087037C>T	uc003chp.1	+	1	436	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	DLEC1_uc003cho.1_Missense_Mutation_p.R139W|DLEC1_uc010hgv.1_Missense_Mutation_p.R139W	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	139					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)		CTGCCAGATTCGGGAGCTCTA	0.493000														40			9		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934602	28934602	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr18:28934602C>T	uc002kwp.3	+	14	2655	c.2443C>T	c.(2443-2445)Ccc>Tcc	p.P815S	DSG1_uc010xbp.2_Missense_Mutation_p.P174S	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	815					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GAGCACCTATCCCTCGGGACC	0.512000														174			13		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96480210	96480210	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:96480210G>A	uc001kjv.4	+	5	1203	c.877G>A	c.(877-879)Gat>Aat	p.D293N	CYP2C19_uc001kjw.4_Missense_Mutation_p.D234N|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	293					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.A292P(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CACTGTAACTGATATGTTTGG	0.398000														66			5		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168834490	168834490	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:168834490G>A	uc011bpj.1	-	7	1573	c.1170C>T	c.(1168-1170)aaC>aaT	p.N390N	MECOM_uc010hwk.1_Silent_p.N225N|MECOM_uc003ffj.3_Silent_p.N267N|MECOM_uc003ffi.3_Silent_p.N202N|MECOM_uc011bpi.1_Silent_p.N203N|MECOM_uc003ffn.3_Silent_p.N202N|MECOM_uc003ffk.2_Silent_p.N202N|MECOM_uc003ffl.2_Silent_p.N362N|MECOM_uc011bpk.1_Silent_p.N202N|MECOM_uc010hwn.2_Silent_p.N390N	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GACGGCAAAGGTTTGAAAACT	0.393000														114			21		0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233398736	233398736	+	Silent	SNP	G	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:233398736G>C	uc002vsw.3	+	9	1147	c.1143G>C	c.(1141-1143)ctG>ctC	p.L381L	CHRND_uc010zmg.2_Silent_p.L366L|CHRND_uc010zmh.2_Silent_p.L187L	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	381					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.S380F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GCAGCTCCCTGGGATACATCT	0.652000														96			5		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22758805	22758805	+	RNA	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:22758805G>A	uc021wml.1	+	61		c.6595G>A								Parts of antibodies, mostly variable regions.																		CCCCAGGACAGAAGGTCACCA	0.587000														90			7		0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004482	248004482	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:248004482G>A	uc001idn.1	-	0	717	c.717C>T	c.(715-717)tcC>tcT	p.S239S		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGCCACATGTGGAAAAGGTCT	0.493000														87			27		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107276032	107276032	+	RNA	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:107276032C>T	uc021ser.1	-	4		c.270G>A								Parts of antibodies, mostly variable regions.																		CCAGCCCCTTCCCTGGAGCCT	0.498000														25			4		0	0	1	0	0
C7orf58	79974	broad.mit.edu	37	7	120782053	120782053	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:120782053G>A	uc003vjq.4	+	15	2360	c.1913G>A	c.(1912-1914)gGa>gAa	p.G638E	C7orf58_uc003vjs.4_Missense_Mutation_p.G638E|C7orf58_uc003vjt.4_Missense_Mutation_p.G418E	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	638						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					CTGGGCTTAGGAATGAACAAA	0.428000														102			24		0	0	1	0	0
REG1P	5969	broad.mit.edu	37	2	79363156	79363156	+	RNA	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:79363156G>A	uc002soa.1	-	3		c.1158C>T			REG1P_uc002sob.1_Non-coding_Transcript|REG1P_uc002soc.1_Non-coding_Transcript					Homo sapiens mRNA for Reg-related sequence derived peptide-1, complete cds.																		AATGTCCCAGGATTTGTAGGA	0.517000														19			8		0	0	1	0	0
KANSL3	55683	broad.mit.edu	37	2	97276557	97276557	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:97276557G>A	uc002swn.4	-	10	1371	c.1225C>T	c.(1225-1227)Ctt>Ttt	p.L409F	KANSL3_uc002swh.4_Missense_Mutation_p.L297F|KANSL3_uc002swi.4_Missense_Mutation_p.L310F|KANSL3_uc002swj.4_Non-coding_Transcript|KANSL3_uc002swk.4_Missense_Mutation_p.L322F|KANSL3_uc010fhz.3_Missense_Mutation_p.L203F|KANSL3_uc002swl.4_Missense_Mutation_p.L310F|KANSL3_uc002swm.4_Non-coding_Transcript|KANSL3_uc010yur.2_Missense_Mutation_p.L203F|KANSL3_uc002swp.1_Missense_Mutation_p.L310F|KANSL3_uc002swq.1_Missense_Mutation_p.L181F|KANSL3_uc010fhy.1_Missense_Mutation_p.L310F	NM_001115016	NP_060461	Q9P2N6	K1310_HUMAN	Homo sapiens KAT8 regulatory NSL complex subunit 3 (KANSL3), transcript variant 1, mRNA.	409																	TGACATTGAAGGGAATTCTGA	0.478000														167			11		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41414346	41414346	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr21:41414346C>T	uc002yyq.1	-	31	6090	c.5638G>A	c.(5638-5640)Gat>Aat	p.D1880N	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1880					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTTCCTCCATCCTGAGGTTTG	0.567000														94			11		0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67401709	67401709	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:67401709G>A	uc001omp.3	-	3	588	c.500C>T	c.(499-501)tCc>tTc	p.S167F		NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	167					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						CTTGTCAAAGGACACAATCTG	0.657000														142			9		0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184765085	184765085	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:184765085G>A	uc001gra.3	-	13	2007	c.1813C>T	c.(1813-1815)Ctg>Ttg	p.L605L	FAM129A_uc001grb.1_Silent_p.L368L	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	605					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						ACTCCTGGCAGAATGGCAGAA	0.547000														102			32		0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20666514	20666514	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:20666514G>A	uc010tlb.2	+	0	1020	c.1020G>A	c.(1018-1020)aaG>aaA	p.K340K		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	340					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		AAGCTCTGAAGAAATTTTGGG	0.358000														143			13		0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37769187	37769187	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:37769187G>A	uc003asq.4	-	2	3174	c.2388C>T	c.(2386-2388)gtC>gtT	p.V796V	ELFN2_uc021wph.1_Silent_p.V796V	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	796						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TGGCGAACTGGACCTTCTTGC	0.627000														71			6		0	0	1	0	0
SRD5A2	6716	broad.mit.edu	37	2	31754406	31754406	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:31754406G>A	uc002rnw.1	-	4	737	c.666C>T	c.(664-666)ttC>ttT	p.F222F		NM_000348	NP_000339	P31213	S5A2_HUMAN	Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) (SRD5A2), mRNA.	223					androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GCAGCCCAAGGAAACAAAGTG	0.473000														52			6		0	0	1	0	0
BBOX1	8424	broad.mit.edu	37	11	27078847	27078847	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:27078847G>A	uc001mre.1	+	3	687	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	BBOX1_uc009yih.1_Missense_Mutation_p.E107K|BBOX1_uc001mrg.1_Missense_Mutation_p.E107K|BBOX1_uc021qfd.1_Missense_Mutation_p.E107K	NM_003986	NP_003977	O75936	BODG_HUMAN	Homo sapiens butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 (BBOX1), mRNA.	107					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	GCTCCAAAGAGAATTGTTTTT	0.383000														80			5		0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165578736	165578736	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:165578736G>A	uc002ucp.3	-	5	1067	c.845C>T	c.(844-846)tCc>tTc	p.S282F	COBLL1_uc002ucq.3_Missense_Mutation_p.S282F|COBLL1_uc010zcw.2_Missense_Mutation_p.S348F|COBLL1_uc010zcx.2_Missense_Mutation_p.S328F|COBLL1_uc002ucs.1_Non-coding_Transcript|COBLL1_uc002uco.3_Missense_Mutation_p.S51F	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	320										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CAGGGTGTTGGAAATATATGG	0.527000														71			9		0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40293386	40293386	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:40293386C>T	uc001zkm.1	+	20	3170	c.3120C>T	c.(3118-3120)tcC>tcT	p.S1040S	EIF2AK4_uc010bbj.1_Silent_p.S741S|EIF2AK4_uc001zkn.1_Silent_p.S140S|EIF2AK4_uc001zko.1_5'Flank	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	1040	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AGCGCATCTCCCCTGCCATCG	0.557000														60			10		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166020945	166020945	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:166020945G>A	uc002ucx.3	-	5	1051	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	SCN3A_uc002ucy.3_Missense_Mutation_p.R187C|SCN3A_uc002ucz.3_Missense_Mutation_p.R187C|SCN3A_uc002uda.1_Missense_Mutation_p.R56C|SCN3A_uc002udb.1_Missense_Mutation_p.R56C	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	187						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CATGGATCACGAAGAAACGTA	0.373000														60			4		0	0	1	0	0
KPNB1	3837	broad.mit.edu	37	17	45730068	45730068	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:45730068C>T	uc002ilt.1	+	2	444	c.108C>T	c.(106-108)ttC>ttT	p.F36F	KPNB1_uc010wkw.1_5'UTR	NM_002265	NP_002256	Q14974	IMB1_HUMAN	Homo sapiens karyopherin (importin) beta 1 (KPNB1), mRNA.	36	Importin N-terminal.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						AGCCCACTTTCCTTGTGGAAC	0.418000														69			5		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993581	140993581	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:140993581C>T	uc004fbt.3	+	3	715	c.391C>T	c.(391-393)Cct>Tct	p.P131S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'Flank	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	131							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGCAGAATCCTGCGAGTTC	0.498000										HNSCC(15;0.026)				76			15		0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136170906	136170906	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:136170906C>T	uc003era.1	-	13	1689	c.1397G>A	c.(1396-1398)aGg>aAg	p.R466K	STAG1_uc003erb.1_Missense_Mutation_p.R466K|STAG1_uc003erc.1_Missense_Mutation_p.R240K|STAG1_uc010hua.1_Missense_Mutation_p.R329K	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	466					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AACCAGCATCCTAATGAGGTT	0.333000														65			7		0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	668526	668526	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:668526G>A	uc001qii.1	+	18	2827	c.2827G>A	c.(2827-2829)Ggc>Agc	p.G943S	B4GALNT3_uc001qik.1_Missense_Mutation_p.G492S	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	943						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CAGGATTGGGGGCATGAACAC	0.607000														129			19		0	0	1	0	0
USP35	57558	broad.mit.edu	37	11	77917056	77917056	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:77917056C>T	uc021qny.1	+	6	1722	c.1366C>T	c.(1366-1368)Ctt>Ttt	p.L456F	USP35_uc001oze.2_Missense_Mutation_p.L212F|USP35_uc001ozc.3_Missense_Mutation_p.L24F|USP35_uc010rsp.2_Intron|USP35_uc001ozd.3_Silent_p.S65S|USP35_uc001ozf.3_Missense_Mutation_p.L187F	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.	456					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CAACAGCATCCTTCAGGCCTT	0.552000														385			26		0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756420	94756420	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:94756420C>T	uc001yct.3	-	1	977	c.511G>A	c.(511-513)Gat>Aat	p.D171N	SERPINA10_uc001ycu.4_Missense_Mutation_p.D171N	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	171					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.K170K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		ACATCAAAATCCTTGTGGATG	0.498000														89			24		0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107155189	107155189	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:107155189A>C	uc001tlt.3	+	17	2317	c.2177A>C	c.(2176-2178)cAa>cCa	p.Q726P	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Missense_Mutation_p.Q717P|RFX4_uc001tlv.3_Missense_Mutation_p.Q623P	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	717					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GAGCACATGCAACACTTTCCT	0.428000														89			7		0	0	1	0	0
SPEM1	374768	broad.mit.edu	37	17	7324749	7324749	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:7324749C>T	uc002ggv.3	+	2	780	c.755C>T	c.(754-756)tCc>tTc	p.S252F	SPEM1_uc010vtw.1_Intron	NM_199339	NP_955371	Q8N4L4	SPEM1_HUMAN	Homo sapiens spermatid maturation 1 (SPEM1), mRNA.	252					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				CCTGAATTTTCCCGGCACCGC	0.662000														36			5		0	0	1	0	0
COLQ	8292	broad.mit.edu	37	3	15529759	15529759	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:15529759G>A	uc003bzx.3	-	2	401	c.275C>T	c.(274-276)cCg>cTg	p.P92L	HACL1_uc011avr.1_Non-coding_Transcript|COLQ_uc003bzv.3_Missense_Mutation_p.P82L|COLQ_uc010heo.3_Intron|COLQ_uc003cad.1_Non-coding_Transcript|COLQ_uc003cae.1_5'UTR	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant I, mRNA.	92					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						TTGCATGCACGGGGACTGCGA	0.587000														74			6		0	0	1	0	0
MMD2	221938	broad.mit.edu	37	7	4947218	4947218	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:4947218C>T	uc003sno.4	-	6	818	c.622G>A	c.(622-624)Ggc>Agc	p.G208S	MMD2_uc003snl.1_Non-coding_Transcript|MMD2_uc003snn.4_Missense_Mutation_p.G184S|MMD2_uc010ksq.3_3'UTR	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	Homo sapiens monocyte to macrophage differentiation-associated 2 (MMD2), transcript variant 1, mRNA.	208						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		TCCCAGATGCCCTCGGTGTTG	0.612000														79			14		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833196	168833196	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:168833196G>A	uc011bpj.1	-	7	2867	c.2464C>T	c.(2464-2466)Cct>Tct	p.P822S	MECOM_uc010hwk.1_Missense_Mutation_p.P657S|MECOM_uc003ffj.3_Missense_Mutation_p.P699S|MECOM_uc003ffi.3_Missense_Mutation_p.P634S|MECOM_uc011bpi.1_Missense_Mutation_p.P635S|MECOM_uc003ffn.3_Missense_Mutation_p.P634S|MECOM_uc003ffk.2_Missense_Mutation_p.P634S|MECOM_uc003ffl.2_Missense_Mutation_p.P794S|MECOM_uc011bpk.1_Missense_Mutation_p.P634S|MECOM_uc010hwn.2_Missense_Mutation_p.P822S	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity	p.P634S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATAAAGAAAGGAGTGGGTCTT	0.448000														67			8		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38941495	38941495	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:38941495G>A	uc021wvy.1	-	12	2111	c.1912C>T	c.(1912-1914)Cgc>Tgc	p.R638C		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	638					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAGCCTCGGCGAAAGTAGTGG	0.423000														63			10		0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	A	A	rs121913499		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:209113113G>A	uc002vcs.3	-	3	640	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma									86			19		0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81837403	81837403	+	Missense_Mutation	SNP	G	A	A	rs146988761	byFrequency	TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:81837403G>A	uc010tvu.2	-	2	698	c.500C>T	c.(499-501)tCg>tTg	p.S167L	STON2_uc001xvk.1_Missense_Mutation_p.S167L	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	167					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ATCTGTATACGAACATCCAAA	0.542000														116			19		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542444	179542444	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179542444G>A	uc021vsy.1	-	142	30688	c.30463C>T	c.(30463-30465)Cct>Tct	p.P10155S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6816S|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11082	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTCGGGAGGAACTTCCTCT	0.448000														101			27		0	0	1	0	0
RRAGB	10325	broad.mit.edu	37	X	55783759	55783759	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:55783759C>T	uc004dup.3	+	9	1673	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F	RRAGB_uc004duq.3_Missense_Mutation_p.S313F	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN	Homo sapiens Ras-related GTP binding B (RRAGB), transcript variant RAGBl, mRNA.	341					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						TCTGATCCGTCCATTCGTAAG	0.383000														24			4		0	0	1	0	0
TRIM74	378108	broad.mit.edu	37	7	72436459	72436459	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:72436459G>A	uc010lao.2	-	1	303	c.230C>T	c.(229-231)gCc>gTc	p.A77V	TRIM74_uc003tws.1_Missense_Mutation_p.A77V|TRIM74_uc022afm.1_Missense_Mutation_p.A77V	NM_198853	NP_942150	Q86UV6	TRI74_HUMAN	Homo sapiens tripartite motif containing 74 (TRIM74), mRNA.	77						intracellular	zinc ion binding			prostate(1)	1						GAGCCTCAGGGCTTCGATCAC	0.657000														147			18		0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75101169	75101169	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:75101169G>A	uc009xrc.3	-	6	901	c.780C>T	c.(778-780)ctC>ctT	p.L260L	TTC18_uc001jty.3_Silent_p.L260L|TTC18_uc009xrd.1_Silent_p.L68L	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	260							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CAGGATGGTTGAGTTCTCCTT	0.383000														99			6		0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10788403	10788403	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:10788403G>A	uc002czz.1	-	0	400	c.328C>T	c.(328-330)Ctg>Ttg	p.L110L		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	110					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CTGGCCCACAGCCGGGAGGCC	0.667000														123			15		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152550864	152550864	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:152550864G>A	uc021vrb.1	-	17	1898	c.1869C>T	c.(1867-1869)tcC>tcT	p.S623S	NEB_uc002txu.3_Silent_p.S623S|NEB_uc021vrc.1_Silent_p.S623S|NEB_uc010fnx.3_Silent_p.S623S|NEB_uc021vrd.1_Silent_p.S623S|NEB_uc010fny.2_Silent_p.S177S	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	623					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCACCTTCAAGGAGTGCAGCA	0.408000														224			15		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117243596	117243596	+	Nonsense_Mutation	SNP	C	T	T	rs79633941		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:117243596C>T	uc003vjd.3	+	16	2800	c.2668C>T	c.(2668-2670)Caa>Taa	p.Q890*	CFTR_uc011knq.2_Nonsense_Mutation_p.Q296*	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	890	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CACTCCTCTTCAAGACAAAGG	0.363000									Cystic Fibrosis					73			8		0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841699	8841699	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:8841699C>T	uc010xkg.2	+	0	309	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AAATATTCTTCCTCACACTGA	0.532000														95			15		0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38860670	38860670	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:38860670C>T	uc002oih.4	+	26	3166	c.3079C>T	c.(3079-3081)Cct>Tct	p.P1027S	CATSPERG_uc002oig.4_Missense_Mutation_p.P987S|CATSPERG_uc002oif.4_Missense_Mutation_p.P667S|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	1027					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CATCTTTGCCCCTGAATTCTT	0.552000														172			31		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101747907	101747907	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:101747907C>T	uc004azb.1	+	2	367	c.161C>T	c.(160-162)tCc>tTc	p.S54F		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	54	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.S53S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTGCCCTCGTCCGTATCCTTT	0.607000														32			6		0	0	1	0	0
IRAK3	11213	broad.mit.edu	37	12	66639026	66639027	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:66639026_66639027GA>AC	uc001sth.3	+	10	1400_1401	c.1298_1299GA>AC	c.(1297-1299)aga>aAC	p.R433N	IRAK3_uc010ssy.2_Missense_Mutation_p.R372N	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	433	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|interleukin-1-mediated signaling pathway|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB transcription factor activity|positive regulation of macrophage tolerance induction|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GCAAAGTTAAGACCATCAATGG	0.426000														143			9		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176659413	176659413	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:176659413G>A	uc001gkz.3	+	4	3442	c.2278G>A	c.(2278-2280)Gag>Aag	p.E760K	PAPPA2_uc001gky.1_Missense_Mutation_p.E760K|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	760					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCCTGCAAGGAGACAGTGCC	0.557000														187			17		0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8808646	8808646	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:8808646C>T	uc002mkl.2	-	0	527	c.406G>A	c.(406-408)Gac>Aac	p.D136N		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	136						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						ACTCGGAGGTCGTGCTCCAGC	0.687000														67			5		0	0	1	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057913	46057913	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr21:46057913C>T	uc002zfq.3	+	0	641	c.579C>T	c.(577-579)ctC>ctT	p.L193L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	Homo sapiens keratin associated protein 10-10 (KRTAP10-10), mRNA.	193	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TGTCCCTCCTCTGCCACCCTG	0.677000														215			25		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38627257	38627257	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:38627257C>T	uc021wvo.1	-	14	2764	c.2712G>A	c.(2710-2712)tgG>tgA	p.W904*	SCN5A_uc021wvk.1_Nonsense_Mutation_p.W904*|SCN5A_uc021wvl.1_Nonsense_Mutation_p.W904*|SCN5A_uc021wvm.1_Nonsense_Mutation_p.W904*|SCN5A_uc021wvn.1_Nonsense_Mutation_p.W904*|SCN5A_uc021wvp.1_Nonsense_Mutation_p.W904*|SCN5A_uc021wvq.1_Nonsense_Mutation_p.W904*|SCN5A_uc021wvr.1_Nonsense_Mutation_p.W904*|SCN5A_uc021wvs.1_Nonsense_Mutation_p.W904*|SCN5A_uc021wvt.1_Nonsense_Mutation_p.W904*|SCN5A_uc021wvu.1_Nonsense_Mutation_p.W904*|SCN5A_uc021wvv.1_Nonsense_Mutation_p.W904*|SCN5A_uc021wvj.1_Nonsense_Mutation_p.W770*|SCN5A_uc021wvi.1_Nonsense_Mutation_p.W770*|SCN5A_uc021wvw.1_Nonsense_Mutation_p.W515*	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	904					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCATGCAGTCCCACATGGTCT	0.547000														102			22		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139149473	139149473	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:139149473A>G	uc003yuy.3	-	18	4103	c.3932T>C	c.(3931-3933)gTt>gCt	p.V1311A	FAM135B_uc003yux.3_Missense_Mutation_p.V1212A|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1311										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGGAGAAGCAACCAGCACGAC	0.418000										HNSCC(54;0.14)				119			9		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23825128	23825128	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:23825128A>C	uc003sws.4	+	17	2247	c.2180A>C	c.(2179-2181)gAa>gCa	p.E727A	STK31_uc003swt.4_Missense_Mutation_p.E704A|STK31_uc011jze.2_Missense_Mutation_p.E727A|STK31_uc010kuq.3_Missense_Mutation_p.E704A|STK31_uc003swv.1_5'Flank	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	727	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATGAGCTTGGAACGAGATCTT	0.398000														147			12		0	0	1	0	0
SLA2	84174	broad.mit.edu	37	20	35269699	35269699	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:35269699G>A	uc002xfv.3	-	1	463	c.40C>T	c.(40-42)Cca>Tca	p.P14S	SLA2_uc002xfu.3_Missense_Mutation_p.P14S	NM_032214	NP_115590	Q9H6Q3	SLAP2_HUMAN	Homo sapiens Src-like-adaptor 2 (SLA2), transcript variant 1, mRNA.	14					B cell mediated immunity|T cell activation|antigen receptor-mediated signaling pathway|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	SH3/SH2 adaptor activity|protein N-terminus binding			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CTCAAGCTTGGGCTTGGCAGA	0.537000														99			6		0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116345889	116345889	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:116345889G>A	uc004bhq.3	+	20	2406	c.2197G>A	c.(2197-2199)Gaa>Aaa	p.E733K	RGS3_uc004bhs.3_Missense_Mutation_p.E623K|RGS3_uc004bht.3_Missense_Mutation_p.E452K|RGS3_uc010muy.3_Intron|RGS3_uc004bhv.3_Missense_Mutation_p.E54K|RGS3_uc010muz.1_Missense_Mutation_p.E72K|RGS3_uc004bhw.3_Intron|RGS3_uc011lxh.2_Missense_Mutation_p.E54K|RGS3_uc004bhx.3_Missense_Mutation_p.E54K|RGS3_uc004bhy.1_Missense_Mutation_p.E43K|RGS3_uc004bhz.3_Missense_Mutation_p.E75K	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	733	Pro-rich.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TTCTGGGCAGGAACCCGCTCC	0.622000														110			12		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196651833	196651833	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:196651833C>T	uc002utj.4	-	57	10880	c.10779G>A	c.(10777-10779)cgG>cgA	p.R3593R	DNAH7_uc002uti.4_Silent_p.R76R	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3593	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTCCAAATTTCCGTCTTTCTT	0.413000														66			20		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21936968	21936968	+	RNA	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:21936968G>A	uc010tzj.1	-	0		c.3772C>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TCTGGGCACAGAAACCAAAGT	0.483000														373			12		0	0	1	0	0
TCRBV21S1	0	broad.mit.edu	37	7	142223941	142223941	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:142223941C>T	uc003vyi.2	-	1	243	c.226G>A	c.(226-228)Gat>Aat	p.D76N	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		AACTGTGAATCATCTACTACA	0.512000														99			8		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82450956	82450956	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:82450956G>A	uc001dit.4	+	19	3555	c.3374G>A	c.(3373-3375)aGa>aAa	p.R1125K	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.R1125K|LPHN2_uc001div.3_Missense_Mutation_p.R1125K|LPHN2_uc009wcd.3_Intron|LPHN2_uc001diw.3_Missense_Mutation_p.R709K	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	1138					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CGTATAAGAAGAATGTGGAAT	0.323000														34			4		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2976071	2976071	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:2976071G>A	uc022aqr.1	-	41	6670	c.6280C>T	c.(6280-6282)Cag>Tag	p.Q2094*	CSMD1_uc011kwj.2_Nonsense_Mutation_p.Q1487*|CSMD1_uc010lrg.3_Nonsense_Mutation_p.Q163*	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2095	Sushi 12.					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)		TACCCATTCTGAAATGGGGGT	0.403000														111			7		0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42750511	42750511	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:42750511G>A	uc003cly.4	-	15	2193	c.2109C>T	c.(2107-2109)ttC>ttT	p.F703F		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	703										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GGGCCTGCAGGAAGACACTTT	0.587000														122			8		0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152845447	152845447	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:152845447G>A	uc004fht.1	+	19	3480	c.3354G>A	c.(3352-3354)gtG>gtA	p.V1118V	ATP2B3_uc004fhs.1_Missense_Mutation_p.E1170K|ATP2B3_uc010nuf.1_Silent_p.V255V|ATP2B3_uc004fhu.1_Silent_p.V70V	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	1118	Calmodulin-binding subdomain B (By similarity).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCGGGTGGTGAAAGCGTTCC	0.557000														78			15		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256953	24256953	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:24256953C>T	uc003xdz.2	+	9	1197	c.977C>T	c.(976-978)tCc>tTc	p.S326F	ADAMDEC1_uc010lub.2_Missense_Mutation_p.S247F|ADAMDEC1_uc011lab.1_Missense_Mutation_p.S247F	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	326	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GCTTCAAATTCCTTGTGTTCC	0.423000														87			25		0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41069763	41069763	+	Splice_Site	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:41069763C>T	uc004dfb.3	+	33	5649	c.5016_splice	c.e33-1	p.R1672_splice	USP9X_uc004dfc.3_Splice_Site_p.R1672_splice	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1672					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATTTCTTAGGCTTTGGGGTGA	0.328000														44			9		0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20829125	20829125	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:20829125C>T	uc002npb.1	-	1	240	c.90G>A	c.(88-90)agG>agA	p.R30R	ZNF626_uc002npc.1_Intron|ZNF626_uc002npd.1_Silent_p.R30R	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	30	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y29H(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						ACATCACATTCCTATATAAAT	0.378000														149			9		0	0	1	0	0
SLC2A14	144195	broad.mit.edu	37	12	7967020	7967020	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:7967020G>A	uc010sgh.2	-	9	1521	c.1500C>T	c.(1498-1500)atC>atT	p.I500I	SLC2A14_uc001qtk.3_Silent_p.I485I|SLC2A14_uc001qtl.3_Silent_p.I462I|SLC2A14_uc001qtm.3_Silent_p.I462I|SLC2A14_uc010sgg.2_Silent_p.I376I|SLC2A14_uc001qtn.3_Silent_p.I485I|SLC2A14_uc001qto.3_Silent_p.I120I	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	485					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	p.G500W(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AGGCCCGTGTGATATCCTCAA	0.527000														226			15		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106692121	106692121	+	RNA	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:106692121C>T	uc021ser.1	-	1154		c.24965G>A								Parts of antibodies, mostly variable regions.																		AGCCCCAGTTCCATGGTGAAT	0.502000														177			26		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23870053	23870053	+	Silent	SNP	G	A	A	rs61742470	byFrequency	TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:23870053G>A	uc001wjv.3	-	12	1346	c.1275C>T	c.(1273-1275)atC>atT	p.I425I	MYH6_uc010akp.2_Silent_p.I425I	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	425	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCAGAGCCCCGATGGAGTAGT	0.582000														107			5		0	0	1	0	0
ISLR2	57611	broad.mit.edu	37	15	74426768	74426768	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:74426768T>G	uc002axd.3	+	3	2442	c.1673T>G	c.(1672-1674)cTg>cGg	p.L558R	ISLR2_uc002axe.3_Missense_Mutation_p.L558R|ISLR2_uc010bjg.3_Missense_Mutation_p.L558R|ISLR2_uc010bjf.3_Missense_Mutation_p.L558R|ISLR2_uc021sqe.1_Missense_Mutation_p.L558R	NM_001130136	NP_065902	Q6UXK2	ISLR2_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat 2 (ISLR2), transcript variant 1, mRNA.	558					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TTCCGCGGCCTGCGGCCGGGT	0.672000														17			3		0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150490224	150490224	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:150490224C>T	uc022apx.1	-	3	678	c.552G>A	c.(550-552)gaG>gaA	p.E184E	TMEM176B_uc003whu.4_Silent_p.E184E|TMEM176B_uc003whv.4_Silent_p.E147E|TMEM176B_uc003whw.4_Silent_p.E184E	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	184					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCATTGGTTCTCTTGACTTC	0.512000														140			7		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11068023	11068023	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:11068023C>T	uc010hdq.3	+	9	1467	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	352					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CCAAGAGGTCCATTGCTGATG	0.562000														96			26		0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117297357	117297357	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:117297357G>A	uc001egu.4	+	1	195	c.166G>A	c.(166-168)Gat>Aat	p.D56N	CD2_uc010owz.1_Missense_Mutation_p.D56N|CD2_uc010oxa.1_Missense_Mutation_p.D56N	NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	56	Ig-like V-type.				T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	TGATATTGACGATATAAAATG	0.353000														74			7		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72678741	72678741	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:72678741G>A	uc003pga.3	+	1	297	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	74	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.A73P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AAGAAATGCTGAAAACCAGCC	0.438000														103			10		0	0	1	0	0
TNFSF14	8740	broad.mit.edu	37	19	6665054	6665054	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:6665054G>A	uc002mfk.2	-	4	988	c.606C>T	c.(604-606)ttC>ttT	p.F202F	TNFSF14_uc002mfj.2_Silent_p.F166F	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	202					T cell homeostasis|T cell proliferation|cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	p.S201N(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CACCACCCAGGAAGCTGCTGT	0.652000														67			14		0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86526854	86526854	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:86526854C>T	uc011kha.2	-	18	2838	c.2653G>A	c.(2653-2655)Gag>Aag	p.E885K	KIAA1324L_uc003uie.3_Missense_Mutation_p.E718K|KIAA1324L_uc011kgz.2_Missense_Mutation_p.E771K|KIAA1324L_uc003uif.2_Missense_Mutation_p.E637K	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	885						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCCTCAATCTCATGGAAGTCA	0.473000														95			14		0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117364746	117364746	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:117364746G>A	uc003vjf.3	-	18	4394	c.4302C>T	c.(4300-4302)ttC>ttT	p.F1434F		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1434										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGGATAAAGGGAAACTTCCTC	0.428000														68			4		0	0	1	0	0
RNF215	200312	broad.mit.edu	37	22	30776101	30776101	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:30776101G>A	uc003ahp.3	-	6	958	c.958C>T	c.(958-960)Ccg>Tcg	p.P320S	RNF215_uc011akw.2_Missense_Mutation_p.P225S	NM_001017981	NP_001017981	Q9Y6U7	RN215_HUMAN	Homo sapiens ring finger protein 215 (RNF215), mRNA.	320						integral to membrane	zinc ion binding	p.P320P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						TCAGCACCCGGATCTGGGAGG	0.647000														107			10		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692878	135692878	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:135692878G>A	uc003lbn.2	-	1	420	c.198C>T	c.(196-198)tcC>tcT	p.S66S	TRPC7_uc010jef.2_Silent_p.S57S|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.S66S|TRPC7_uc010jei.2_Silent_p.S66S	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	66					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TAAGGGTCTTGGACTCCTCCA	0.592000														153			16		0	0	1	0	0
GPR157	80045	broad.mit.edu	37	1	9164481	9164481	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:9164481G>A	uc001apq.1	-	3	1148	c.1005C>T	c.(1003-1005)acC>acT	p.T335T	GPR157_uc010oad.1_Silent_p.T270T	NM_024980	NP_079256	Q5UAW9	GP157_HUMAN	Homo sapiens G protein-coupled receptor 157 (GPR157), mRNA.	335						integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		CAAAAGCTCAGGTGCTTGGAA	0.597000														64			6		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45699709	45699709	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:45699709G>A	uc003tne.4	+	6	1394	c.1376G>A	c.(1375-1377)gGa>gAa	p.G459E	ADCY1_uc003tnd.3_Missense_Mutation_p.G234E	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	459					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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	p.G459V(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CCGGGTTACGGACATGAGAGG	0.493000														82			19		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108163519	108163519	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:108163519C>T	uc003dxa.1	-	22	2740	c.2683G>A	c.(2683-2685)Gaa>Aaa	p.E895K		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	895						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						TCATTTTTTTCCTGAGTGAGG	0.428000														97			21		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36879930	36879930	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:36879930G>A	uc003cgj.3	-	18	5566	c.5318C>T	c.(5317-5319)tCc>tTc	p.S1773F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1773					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACACTTAAGGGACAGTGTTGG	0.493000														86			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641147	179641147	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179641147C>T	uc021vsy.1	-	27	5669	c.5444G>A	c.(5443-5445)aGa>aAa	p.R1815K	TTN_uc021vsz.1_Missense_Mutation_p.R1769K|TTN_uc021vta.1_Missense_Mutation_p.R1769K|TTN_uc021vtb.1_Missense_Mutation_p.R1769K|TTN_uc002unb.2_Missense_Mutation_p.R1815K|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1815							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)			TTCTTCAATTCTCTGTAAGCC	0.408000														174			22		0	0	1	0	0
SSTR5	6755	broad.mit.edu	37	16	1129110	1129110	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:1129110A>G	uc021taf.1	+	1	313	c.242A>G	c.(241-243)aAc>aGc	p.N81S	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Missense_Mutation_p.N81S	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	81					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.N81S(2)		endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	TACATTCTCAACCTGGCAGTG	0.647000														47			6		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110487357	110487357	+	Silent	SNP	T	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:110487357T>C	uc003yne.3	+	50	8720	c.8616T>C	c.(8614-8616)atT>atC	p.I2872I		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2872					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.T2872S(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)			GCACAAGCATTATTCCATTTC	0.348000										HNSCC(38;0.096)				39			7		0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142459745	142459745	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:142459745C>T	uc003wak.2	+	2	338	c.321C>T	c.(319-321)gaC>gaT	p.D107D	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Silent_p.D47D	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	107	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TGAACAATGACATCATGTTAA	0.547000														206			38		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511203	169511203	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:169511203G>A	uc001ggg.1	-	12	3270	c.3125C>T	c.(3124-3126)cCt>cTt	p.P1042L		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1042	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CGGAGATAAAGGAGCATGGTG	0.398000														342			13		0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93055703	93055703	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:93055703G>A	uc003umv.2	-	15	1792	c.1492C>T	c.(1492-1494)Cct>Tct	p.P498S	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.P464S|CALCR_uc003umw.2_Missense_Mutation_p.P464S	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	480					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ATATTCAAAGGGATGATCTCA	0.493000														186			8		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897993	36897993	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:36897993G>A	uc003cgj.3	-	11	3336	c.3088C>T	c.(3088-3090)Ctt>Ttt	p.L1030F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1030					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CGCCCAATAAGGATGATGGGC	0.552000														144			9		0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98188611	98188611	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:98188611G>A	uc003dsm.3	+	0	191	c.191G>A	c.(190-192)gGa>gAa	p.G64E		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCTTTCTGGGAAATCTGGCT	0.428000														307			43		0	0	1	0	0
GEM	2669	broad.mit.edu	37	8	95265325	95265325	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:95265325C>T	uc003ygi.3	-	2	471	c.347G>A	c.(346-348)cGa>cAa	p.R116Q	GEM_uc003ygj.3_Missense_Mutation_p.R116Q	NM_181702	NP_859053	P55040	GEM_HUMAN	Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.	116					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			CATCAGGGTTCGTTCATATGT	0.413000														116			19		0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46976324	46976324	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:46976324C>T	uc001cpx.3	+	1	361	c.346C>T	c.(346-348)Cag>Tag	p.Q116*	DMBX1_uc001cpw.3_Nonsense_Mutation_p.Q111*	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	116	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GGCCCGGGTGCAGGTAGGGCC	0.597000														38			5		0	0	1	0	0
PDP1	54704	broad.mit.edu	37	8	94934315	94934315	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:94934315C>T	uc011lgn.2	+	1	254	c.205C>T	c.(205-207)Cct>Tct	p.P69S	PDP1_uc003ygf.3_Missense_Mutation_p.P35S|PDP1_uc003yge.3_Missense_Mutation_p.P10S|PDP1_uc010max.3_Missense_Mutation_p.P35S|PDP1_uc011lgm.2_Missense_Mutation_p.P10S|PDP1_uc022ayg.1_Missense_Mutation_p.P10S	NM_001161778	NP_001155250	Q9P0J1	PDP1_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	10					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	p.P10S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						ACTGTTTTTTCCTCTCATCCG	0.473000														106			20		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115147572	115147572	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:115147572C>T	uc001efd.1	-	10	2340	c.1638G>A	c.(1636-1638)aaG>aaA	p.K546K	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Silent_p.K489K	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	546	UDENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-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)		GCATCCAGTCCTTTGAATCAG	0.348000														47			6		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1653130	1653130	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:1653130C>T	uc002qxa.3	-	16	2486	c.2422G>A	c.(2422-2424)Gtc>Atc	p.V808I		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	808					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCGGGTGTGACGGTCTCCGTC	0.657000														64			6		0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57115254	57115254	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr18:57115254G>A	uc002lib.3	-	6	806	c.736C>T	c.(736-738)Cca>Tca	p.P246S	CCBE1_uc010dpq.3_Silent_p.F21F|CCBE1_uc002lia.3_Missense_Mutation_p.P99S	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	246	Collagen-like 1.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GGAGGTCCTGGAAGGTAGGTG	0.577000														81			5		0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240072077	240072077	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:240072077C>G	uc021plc.1	+	0	1326	c.1326C>G	c.(1324-1326)gaC>gaG	p.D442E	CHRM3_uc001hyp.3_Missense_Mutation_p.D442E	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	442					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	AGACTTCTGACGTCAACTCCT	0.532000														44			13		0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100237178	100237178	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:100237178G>A	uc003hus.4	-	4	528	c.444C>T	c.(442-444)tcC>tcT	p.S148S	ADH1B_uc003hut.4_Silent_p.S108S|ADH1B_uc011ceh.2_Intron|ADH1B_uc011cei.1_Silent_p.S108S	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	148					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CCGTGTACTGGGAGAAGGTGC	0.577000														128			9		0	0	1	0	0
HARBI1	283254	broad.mit.edu	37	11	46625138	46625138	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:46625138G>A	uc001ncy.3	-	2	1240	c.992C>T	c.(991-993)tCc>tTc	p.S331F		NM_173811	NP_776172	Q96MB7	HARB1_HUMAN	Homo sapiens harbinger transposase derived 1 (HARBI1), mRNA.	331						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						TAAGTCCAGGGACTCCATGTG	0.522000														65			7		0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356244	42356244	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:42356244C>T	uc001wvm.3	+	2	1614	c.416C>T	c.(415-417)tCc>tTc	p.S139F	LRFN5_uc010ana.3_Missense_Mutation_p.S139F	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	139						integral to membrane		p.S139F(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ACTTTAATTTCCTCTACAGCG	0.378000										HNSCC(30;0.082)				77			17		0	0	1	0	0
KIAA1279	26128	broad.mit.edu	37	10	70760185	70760185	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:70760185C>A	uc001joy.3	+	1	544	c.432C>A	c.(430-432)aaC>aaA	p.N144K		NM_015634	NP_056449	Q96EK5	KBP_HUMAN	Homo sapiens KIAA1279 (KIAA1279), nuclear gene encoding mitochondrial protein, mRNA.	144					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						TCCAGAATAACCTGGGTATCT	0.318000														72			9		1.58986e-06	1.61108e-06	1	1	0
OR5AK2	390181	broad.mit.edu	37	11	56757020	56757020	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:56757020G>A	uc010rjp.2	+	0	632	c.632G>A	c.(631-633)gGg>gAg	p.G211E		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						ATATTCACTGGGTTGGTCGTC	0.423000														224			18		0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22122259	22122259	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:22122259C>T	uc010vbq.2	+	7	729	c.633C>T	c.(631-633)tcC>tcT	p.S211S	VWA3A_uc010bxc.2_Silent_p.S198S	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	211						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TTGTCCTGTCCTTTGGCACCA	0.562000														14			3		0	0	1	0	0
SIRPD	128646	broad.mit.edu	37	20	1532542	1532542	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:1532542C>T	uc002wfi.3	-	1	260	c.216G>A	c.(214-216)cgG>cgA	p.R72R		NM_178460	NP_848555	Q9H106	SIRPD_HUMAN	Homo sapiens signal-regulatory protein delta (SIRPD), mRNA.	72	Ig-like V-type.					extracellular region		p.R72Q(1)		breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						AGATTAATTTCCGGTTTGGCC	0.463000														86			7		0	0	1	0	0
CC2D2B	387707	broad.mit.edu	37	10	97791583	97791583	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:97791583G>A	uc010qop.2	+	11	1256	c.1024G>A	c.(1024-1026)Gga>Aga	p.G342R	LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CC2D2B_uc001klk.3_Non-coding_Transcript|CC2D2B_uc001kll.3_Missense_Mutation_p.G263R	NM_001159747	NP_001153219	Q6DHV5	C2D2B_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2B (CC2D2B), transcript variant 1, mRNA.	263										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		CCAGGTCACGGGATTTCCCAT	0.393000														231			19		0	0	1	0	0
HOXA6	3203	broad.mit.edu	37	7	27185469	27185469	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:27185469C>T	uc003syo.2	-	1	535	c.510G>A	c.(508-510)ctG>ctA	p.L170L	HOXA-AS3_uc003syr.2_Intron|HOXA5_uc003syn.2_5'Flank|HOXA-AS3_uc003syp.2_5'Flank	NM_024014	NP_076919	P31267	HXA6_HUMAN	Homo sapiens homeobox A6 (HOXA6), mRNA.	170						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						ACTCCTTCTCCAGCTCCAGTG	0.647000														201			26		0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158483101	158483101	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:158483101G>A	uc003qqx.2	+	7	1138	c.1032G>A	c.(1030-1032)ggG>ggA	p.G344G	SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Silent_p.G344G|SYNJ2_uc003qqy.2_Silent_p.G107G|SYNJ2_uc011efn.1_Silent_p.G272G|SYNJ2_uc010kjo.1_Silent_p.G293G|SYNJ2_uc003qqz.2_5'UTR	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	344	SAC.						RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCAAAGGTGGGAAGCTAGAGA	0.537000														257			32		0	0	1	0	0
LOC729513	729513	broad.mit.edu	37	16	70253871	70253871	+	RNA	SNP	A	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:70253871A>G	uc002eyl.1	-	4		c.1620T>C								Homo sapiens SMG1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) pseudogene (LOC729513), non-coding RNA.																		GTAAAGCTTCACCGAAGAGTG	0.388000														20			3		0	0	1	0	0
IFIH1	64135	broad.mit.edu	37	2	163133442	163133442	+	Silent	SNP	A	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:163133442A>G	uc002uce.3	-	10	2281	c.2059T>C	c.(2059-2061)Ttg>Ctg	p.L687L		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	687					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	p.M686T(1)		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						AGCCTTTTCAACATTTTATTG	0.328000														84			6		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158624435	158624435	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:158624435C>T	uc001fst.1	-	20	3201	c.3002G>A	c.(3001-3003)gGt>gAt	p.G1001D		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1001	SH3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TAAGACATCACCTTTCTTCAT	0.488000														60			8		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227945211	227945211	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:227945211C>T	uc021vxr.1	-	22	1852	c.1751G>A	c.(1750-1752)gGa>gAa	p.G584E	COL4A4_uc021vxs.1_Missense_Mutation_p.G584E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	584	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACCATGTGATCCTGGCTGCCC	0.473000														123			22		0	0	1	0	0
SLC44A3	126969	broad.mit.edu	37	1	95303403	95303403	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:95303403C>T	uc001dqv.4	+	5	753	c.646C>T	c.(646-648)Ctt>Ttt	p.L216F	SLC44A3_uc001dqx.4_Missense_Mutation_p.L216F|SLC44A3_uc010otq.2_Missense_Mutation_p.L148F|SLC44A3_uc010otr.2_Missense_Mutation_p.L180F|SLC44A3_uc001dqw.4_Missense_Mutation_p.L168F|SLC44A3_uc010ots.2_Missense_Mutation_p.L136F|SLC44A3_uc009wds.3_Missense_Mutation_p.L119F|SLC44A3_uc010ott.2_Missense_Mutation_p.L136F|SLC44A3_uc010otu.1_Non-coding_Transcript	NM_001114106	NP_689582	Q8N4M1	CTL3_HUMAN	Homo sapiens solute carrier family 44, member 3 (SLC44A3), transcript variant 1, mRNA.	216						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	AGATACAATCCTTGGCCTGTG	0.373000														122			15		0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77412966	77412966	+	Silent	SNP	A	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:77412966A>G	uc001oyn.3	-	5	1428	c.1308T>C	c.(1306-1308)caT>caC	p.H436H	RSF1_uc001oym.3_Silent_p.H184H	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	436					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GTTTCCCTTCATGACCCAAAG	0.358000														78			6		0	0	1	0	0
CIAO1	9391	broad.mit.edu	37	2	96933387	96933387	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:96933387G>A	uc002svs.3	+	2	518	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	TMEM127_uc002svq.3_5'Flank|TMEM127_uc002svr.3_5'Flank	NM_004804	NP_004795	O76071	CIAO1_HUMAN	Homo sapiens cytosolic iron-sulfur protein assembly 1 (CIAO1), mRNA.	105					chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding			endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						CGAGGGCCATGAAAATGAGGT	0.542000														63			8		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70890237	70890237	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:70890237C>T	uc003pfc.1	+	42	2818	c.2701C>T	c.(2701-2703)Cca>Tca	p.P901S		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	901	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCCAGGAGTTCCAGGGGAACC	0.453000														64			9		0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88249336	88249336	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:88249336C>T	uc003ydy.2	+	5	815	c.767C>T	c.(766-768)tCa>tTa	p.S256L		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA.	256										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TCATATGACTCAATGGTAAGA	0.373000														60			4		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48311797	48311797	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:48311797G>A	uc003toq.2	+	16	2558	c.2534G>A	c.(2533-2535)gGa>gAa	p.G845E	ABCA13_uc010kyr.2_Missense_Mutation_p.G348E|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	845					transport	integral to membrane	ATP binding|ATPase activity	p.T845P(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATTTCAAAAGGAAAAAGAGCT	0.289000														65			7		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046480	73046480	+	RNA	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:73046480C>T	uc004ebn.2	+	0		c.34441C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		GTTTAGGGTTCTCATCTTGGG	0.428000														72			22		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209811883	209811883	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:209811883C>T	uc001hhg.3	-	2	684	c.294G>A	c.(292-294)caG>caA	p.Q98Q	LAMB3_uc009xco.3_Silent_p.Q98Q|LAMB3_uc001hhh.3_Silent_p.Q98Q|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Silent_p.Q98Q	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	98	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	p.S97S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCTCACCATTCTGTGACTGCC	0.532000														49			9		0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31470837	31470837	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:31470837C>T	uc010vfn.2	+	2	401	c.277C>T	c.(277-279)Cga>Tga	p.R93*	ARMC5_uc010vfo.2_Nonsense_Mutation_p.R30*|ARMC5_uc002ecc.3_5'UTR|ARMC5_uc002eca.4_5'UTR|ARMC5_uc002ecb.2_5'UTR|ARMC5_uc010vfp.2_5'UTR	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	0							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GTCTGAGGCCCGAGCCAAGAT	0.687000														14			5		0	0	1	0	0
DGKQ	1609	broad.mit.edu	37	4	954842	954842	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:954842G>A	uc003gbw.3	-	21	2796	c.2722C>T	c.(2722-2724)Cct>Tct	p.P908S	DGKQ_uc010ibn.3_Missense_Mutation_p.P895S	NM_001347	NP_001338	P52824	DGKQ_HUMAN	Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA.	908					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	ATP binding|activating transcription factor binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	p.P908A(2)		breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CATACCTTAGGGCCAGCAGCT	0.687000														44			5		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134546	128134546	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:128134546C>T	uc011ebt.2	-	3	1389	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	THEMIS_uc010kfa.3_Missense_Mutation_p.E317K|THEMIS_uc021zfa.1_Missense_Mutation_p.E414K|THEMIS_uc010kfb.3_Missense_Mutation_p.E379K	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	414	CABIT 2.				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						AGGATTTTTTCACAGGCCAGA	0.453000														102			11		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140726004	140726004	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:140726004G>A	uc003ljm.2	+	0	2404	c.2404G>A	c.(2404-2406)Gga>Aga	p.G802R	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.G802R	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	812					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAATGAAAGGAGATTCCAA	0.378000														105			17		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907576	164907576	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:164907576G>A	uc003fej.4	-	1	1487	c.1043C>T	c.(1042-1044)tCc>tTc	p.S348F	SLITRK3_uc003fek.3_Missense_Mutation_p.S348F|SLITRK3_uc021xgy.1_Missense_Mutation_p.S348F	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	348						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TAAAGCTTGGGAGGTGGAGGG	0.488000										HNSCC(40;0.11)				285			22		0	0	1	0	0
NDRG4	65009	broad.mit.edu	37	16	58537789	58537789	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:58537789C>A	uc002enm.3	+	3	606	c.265C>A	c.(265-267)Cat>Aat	p.H89N	NDRG4_uc002enk.3_Missense_Mutation_p.H69N|NDRG4_uc010vif.2_Missense_Mutation_p.H69N|NDRG4_uc002eno.3_Missense_Mutation_p.H37N|NDRG4_uc010cdk.3_Missense_Mutation_p.H37N|NDRG4_uc010vig.2_Missense_Mutation_p.H67N|NDRG4_uc010vih.2_5'UTR|NDRG4_uc010vii.2_Missense_Mutation_p.H55N|NDRG4_uc002enp.3_Missense_Mutation_p.H37N|NDRG4_uc002enq.1_5'Flank	NM_001130487	NP_075061	Q9ULP0	NDRG4_HUMAN	Homo sapiens NDRG family member 4 (NDRG4), transcript variant 2, mRNA.	37					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						CCTCACCTACCATGATGTGGG	0.642000														50			10		0.00829132	0.00833754	1	1	0
NCAN	1463	broad.mit.edu	37	19	19356173	19356173	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:19356173G>A	uc002nlz.3	+	12	3643	c.3544G>A	c.(3544-3546)Gag>Aag	p.E1182K	NCAN_uc002nma.3_Intron	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1182	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CGCGGGTGGCGAGGACTGTGT	0.572000														87			15		0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165551830	165551830	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:165551830C>T	uc002ucp.3	-	11	2408	c.2186G>A	c.(2185-2187)aGg>aAg	p.R729K	COBLL1_uc002ucq.3_Missense_Mutation_p.R691K|COBLL1_uc010zcw.2_Missense_Mutation_p.R796K|COBLL1_uc010zcx.2_Missense_Mutation_p.R737K|COBLL1_uc002ucn.3_Missense_Mutation_p.R157K|COBLL1_uc002uco.3_Missense_Mutation_p.R460K	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	767										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TTTGTCAATCCTATCTACAGG	0.388000														175			7		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182359479	182359479	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:182359479T>G	uc002unu.3	+	11	2042	c.1279T>G	c.(1279-1281)Tta>Gta	p.L427V		NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	427					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CAGCAAATCGTTAAGTATGTT	0.313000														88			5		0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214178552	214178552	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:214178552C>T	uc001hkh.3	+	2	2042	c.1770C>T	c.(1768-1770)ctC>ctT	p.L590L		NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	590					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AAGCAAAGCTCATGTTTTTTT	0.388000														63			21		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38991680	38991680	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:38991680G>A	uc021wvy.1	-	0	373	c.174C>T	c.(172-174)gcC>gcT	p.A58A		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	58					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ACTTCCTGGAGGCCTTTAGGT	0.498000														174			25		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63447728	63447728	+	Silent	SNP	C	T	T	rs143478382		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:63447728C>T	uc001xfx.3	-	5	855	c.804G>A	c.(802-804)acG>acA	p.T268T	KCNH5_uc001xfy.3_Silent_p.T268T|KCNH5_uc001xfz.1_Silent_p.T210T|KCNH5_uc001xga.3_Silent_p.T210T	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	268					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.T268T(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CCACGAAAGTCGTGTGAAAAT	0.428000														74			7		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132201387	132201387	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:132201387G>A	uc002tst.2	-	0	1081	c.615C>T	c.(613-615)ttC>ttT	p.F205F						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		TCCGCTGCATGAAACTGATGA	0.577000														51			5		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37605229	37605229	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr21:37605229C>T	uc002yvg.3	+	14	2557	c.2478C>T	c.(2476-2478)tcC>tcT	p.S826S	DOPEY2_uc011aeb.2_Silent_p.S826S	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	826					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ATTCCCAGTCCCTGGCGCTTG	0.502000														104			9		0	0	1	0	0
EMG1	10436	broad.mit.edu	37	12	7084302	7084302	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:7084302C>T	uc001qsh.4	+	4	603	c.460C>T	c.(460-462)Ctt>Ttt	p.L154F	EMG1_uc009zfo.2_Intron|EMG1_uc010sfv.1_Non-coding_Transcript	NM_006331	NP_006322	Q92979	NEP1_HUMAN	Homo sapiens EMG1 nucleolar protein homolog (S. cerevisiae) (EMG1), mRNA.	155					ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										CCCCCAGAAGCTTTTGAAGGT	0.433000														59			11		0	0	1	0	0
DPH5	51611	broad.mit.edu	37	1	101456040	101456040	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:101456040G>A	uc001dts.2	-	7	929	c.782C>T	c.(781-783)cCa>cTa	p.P261L	DPH5_uc001dtr.2_Missense_Mutation_p.P260L|DPH5_uc001dtt.2_Missense_Mutation_p.P261L|DPH5_uc001dtw.2_Non-coding_Transcript|DPH5_uc001dty.2_Missense_Mutation_p.P140L|DPH5_uc001dtq.2_Non-coding_Transcript|DPH5_uc001dtz.2_Non-coding_Transcript	NM_015958	NP_057042	Q9H2P9	DPH5_HUMAN	Homo sapiens DPH5 homolog (S. cerevisiae) (DPH5), transcript variant 2, mRNA.	261					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		CATCTCCATTGGATGTATGCT	0.423000														116			8		0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20448482	20448482	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:20448482G>A	uc002dhe.3	+	10	1564	c.1417G>A	c.(1417-1419)Gat>Aat	p.D473N		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	473					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding	p.D472N(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						AAGAAACGACGATGTGATCAA	0.473000														229			26		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70637811	70637811	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:70637811C>T	uc003pfc.1	+	4	394	c.277C>T	c.(277-279)Ccc>Tcc	p.P93S	COL19A1_uc010kam.2_5'UTR	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	93	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.P93S(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TAAGATATTTCCCAAAGGCCT	0.413000														99			10		0	0	1	0	0
CYYR1	116159	broad.mit.edu	37	21	27840826	27840826	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr21:27840826C>T	uc002yme.3	-	3	784	c.462G>A	c.(460-462)agG>agA	p.R154R	CYYR1_uc002ymd.3_Silent_p.R153R|CYYR1_uc011ack.2_Non-coding_Transcript	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	Homo sapiens cysteine/tyrosine-rich 1 (CYYR1), mRNA.	153						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						TAGATTATTTCCTTGCGTTTC	0.512000														72			18		0	0	1	0	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293716	71293716	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:71293716G>A	uc001oqu.3	-	0	206	c.168C>T	c.(166-168)agC>agT	p.S56S		NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN	Homo sapiens keratin associated protein 5-11 (KRTAP5-11), mRNA.	56	6 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGGAGCCACAGCTGGAGCAGG	0.632000														232			9		0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143827080	143827080	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:143827080G>A	uc011kua.2	+	0	875	c.875G>A	c.(874-876)aGg>aAg	p.R292K		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TATAGCCTAAGGAATGCAGAG	0.552000														231			49		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100686665	100686665	+	Missense_Mutation	SNP	G	A	A	rs147788282		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:100686665G>A	uc003uxp.1	+	2	12021	c.11968G>A	c.(11968-11970)Gaa>Aaa	p.E3990K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3990						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.E3990K(2)|p.K3989N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTACTAAGGAATTTACAAC	0.478000														186			7		0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12893417	12893417	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:12893417G>A	uc002gnr.4	+	20	2713	c.2386G>A	c.(2386-2388)Gag>Aag	p.E796K	ARHGAP44_uc010vvk.2_3'UTR|ARHGAP44_uc010vvl.2_3'UTR|ARHGAP44_uc002gns.4_3'UTR|ARHGAP44_uc010vvm.2_Missense_Mutation_p.E790K|ARHGAP44_uc010vvn.2_Non-coding_Transcript	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	796					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GAGTCCCCTGGAGCACATGCG	0.587000														38			4		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156915302	156915302	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:156915302G>A	uc003lwz.3	-	20	2600	c.2521C>T	c.(2521-2523)Ccc>Tcc	p.P841S	ADAM19_uc003lww.2_Missense_Mutation_p.P574S|ADAM19_uc003lwy.3_Missense_Mutation_p.P440S|ADAM19_uc011ddr.1_Missense_Mutation_p.P772S	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	841					proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTGCGGGGGGAATTGGCCGG	0.562000														148			9		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54871252	54871252	+	Missense_Mutation	SNP	G	A	A	rs41277453		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:54871252G>A	uc003dhf.3	+	14	1513	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.E395K|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.E223K	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	489	Cache.					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)		TAAGCAGAACGAAACCGTGAG	0.517000														192			19		0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142175346	142175346	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:142175346C>T	uc003yvy.3	+	10	1549	c.1271C>T	c.(1270-1272)gCc>gTc	p.A424V	DENND3_uc010mep.3_Missense_Mutation_p.A385V|DENND3_uc003yvz.1_Missense_Mutation_p.A108V	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	424										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGATGGACGCCTTTGCTCAG	0.517000														161			7		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37026636	37026636	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:37026636G>A	uc004ddl.2	+	0	205	c.153G>A	c.(151-153)gtG>gtA	p.V51V		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	51										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGGTATTTGTGACGGAGGGCA	0.557000														44			8		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140183220	140183220	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:140183220C>T	uc011czz.2	+	0	2438	c.2438C>T	c.(2437-2439)tCa>tTa	p.S813L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc011czy.2_Intron	NM_031497	NP_113685	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 2, mRNA.	0					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)			CTTTGTTTTTCATTCCTCAAT	0.338000														30			4		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993630	140993630	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:140993630C>T	uc004fbt.3	+	3	764	c.440C>T	c.(439-441)tCc>tTc	p.S147F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	147							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCAGAGTTCCCCTGAGAGT	0.498000										HNSCC(15;0.026)				80			19		0	0	1	0	0
BC043541	0	broad.mit.edu	37	1	43352995	43352995	+	RNA	SNP	A	T	T	rs72669421	by1000genomes	TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:43352995A>T	uc001cij.1	+	3		c.897A>T								Homo sapiens cDNA clone IMAGE:5170739.																		CGTGAGGACGAGTCCATCACC	0.602000														34			3		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107040781	107040781	+	Silent	SNP	T	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:107040781T>G	uc010ywi.1	-	19	3699	c.3642A>C	c.(3640-3642)acA>acC	p.T1214T		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1214					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CAGCGACTTTTGTTTGATCAT	0.423000														369			78		0	0	1	0	0
SH3D21	79729	broad.mit.edu	37	1	36786005	36786005	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:36786005C>T	uc010oia.1	+	13	1769	c.1741C>T	c.(1741-1743)Ccc>Tcc	p.P581S	SH3D21_uc010oib.1_Missense_Mutation_p.P470S|SH3D21_uc010oic.1_Non-coding_Transcript|SH3D21_uc009vuz.1_Missense_Mutation_p.P227S	NM_001162530	NP_078952	A4FU49	SH321_HUMAN	Homo sapiens SH3 domain containing 21 (SH3D21), transcript variant 1, mRNA.	465										endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						GAAGCCCCACCCCCACGAAGA	0.612000														63			7		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117389347	117389347	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:117389347G>A	uc001prh.1	-	6	1526	c.1524C>T	c.(1522-1524)atC>atT	p.I508I	DSCAML1_uc001pri.1_Silent_p.I312I	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	448	Ig-like C2-type 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CATCCCGCACGATGGGCTCAT	0.682000														64			12		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2778010	2778010	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:2778010C>T	uc003bpc.3	+	4	506	c.167C>T	c.(166-168)cCa>cTa	p.P56L	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.P56L|CNTN4_uc003bpd.1_Missense_Mutation_p.P56L	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	56	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAAGGAAATCCAAAACCTCAT	0.343000														86			5		0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156395589	156395589	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:156395589C>T	uc003fav.3	+	1	525	c.103C>T	c.(103-105)Cca>Tca	p.P35S	TIPARP-AS1_uc011boq.2_5'Flank|TIPARP_uc003faw.3_Missense_Mutation_p.P35S|TIPARP_uc021xgg.1_Missense_Mutation_p.P35S	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA.	35							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GAAGATCACTCCATTGAAGAC	0.448000														128			17		0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54074956	54074957	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:54074956_54074957GG>AA	uc002qbx.1	+	5	1542_1543	c.108_109GG>AA	c.(106-111)ctggag>ctAAag	p.E37K	ZNF331_uc002qby.1_Missense_Mutation_p.E37K|ZNF331_uc002qbz.1_Missense_Mutation_p.E37K|ZNF331_uc010eqr.1_Missense_Mutation_p.E37K|ZNF331_uc002qca.1_Missense_Mutation_p.E37K|ZNF331_uc021uzg.1_Missense_Mutation_p.E37K|ZNF331_uc021uzh.1_Missense_Mutation_p.E37K|ZNF331_uc002qcb.1_Missense_Mutation_p.E37K|ZNF331_uc002qcc.1_Missense_Mutation_p.E37K|ZNF331_uc002qcd.1_Missense_Mutation_p.E37K	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L36L(2)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		ACGTGATGCTGGAGAACTACAG	0.540000			T	?	follicular thyroid adenoma									239			10		0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5465223	5465223	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:5465223T>C	uc003jdm.4	+	12	5998	c.5776T>C	c.(5776-5778)Tct>Cct	p.S1926P		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	1926										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGCAGAGTTTTCTTTTGATCT	0.403000														28			3		0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113140986	113140986	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:113140986G>A	uc021qqp.1	+	17	2646	c.2274G>A	c.(2272-2274)ctG>ctA	p.L758L	NCAM1_uc001pnq.3_Silent_p.L732L|NCAM1_uc001pnr.3_Silent_p.L722L|NCAM1_uc001pns.3_Silent_p.L116L|LOC100288346_uc021qqr.1_Non-coding_Transcript|NCAM1_uc001pnt.3_5'Flank	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	736					axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TCCTGCTCCTGGTGGTTGTGG	0.612000														173			18		0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120156570	120156570	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:120156570G>A	uc001txj.2	-	30	3993	c.3937C>T	c.(3937-3939)Cgc>Tgc	p.R1313C	CIT_uc001txh.2_Missense_Mutation_p.R790C|CIT_uc001txi.2_Missense_Mutation_p.R1271C	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1271					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCTGCACAGCGAGCTTTCTCC	0.557000														97			16		0	0	1	0	0
COL23A1	91522	broad.mit.edu	37	5	177686729	177686729	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:177686729C>T	uc021yiz.1	-	11	1080	c.722G>A	c.(721-723)gGa>gAa	p.G241E	COL23A1_uc021yiy.1_Missense_Mutation_p.G17E|COL23A1_uc010jkt.2_Missense_Mutation_p.E89K	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Homo sapiens collagen, type XXIII, alpha 1 (COL23A1), mRNA.	241	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CACCTTCTTTCCAGGTACTCC	0.622000														164			10		0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17701473	17701473	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:17701473G>A	uc002grm.3	+	2	5680	c.5211G>A	c.(5209-5211)gaG>gaA	p.E1737E	RAI1_uc002grn.1_Silent_p.E1737E	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	1737						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TGCCGCTTGAGAGAACACTCA	0.647000														46			6		0	0	1	0	0
WDR88	126248	broad.mit.edu	37	19	33623343	33623343	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:33623343C>T	uc002nui.3	+	0	346	c.268C>T	c.(268-270)Ctc>Ttc	p.L90F		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	90										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					CCAGGACCCTCTCTCCAAGGT	0.652000														45			14		0	0	1	0	0
PKM2	5315	broad.mit.edu	37	15	72501045	72501045	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:72501045G>A	uc002aty.2	-	5	1037	c.753C>T	c.(751-753)gtC>gtT	p.V251V	PKM2_uc010bit.1_Silent_p.V256V|PKM2_uc010uki.2_Silent_p.V325V|PKM2_uc002atx.2_Silent_p.V251V|PKM2_uc002atw.2_Silent_p.V251V|PKM2_uc010ukj.2_Silent_p.V236V|PKM2_uc010ukk.2_Silent_p.V177V|PKM2_uc002atv.2_Silent_p.V286V|PKM2_uc010biu.1_Silent_p.V272V	NM_002654	NP_002645	P14618	KPYM_HUMAN	Homo sapiens pyruvate kinase, muscle (PKM2), transcript variant 1, mRNA.	251					glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|prostate(1)	13					Pyruvic acid(DB00119)	TAACTTCATGGACATCAGATG	0.502000														157			23		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40964861	40964861	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:40964861C>T	uc003jmh.3	+	13	1882	c.1768C>T	c.(1768-1770)Cct>Tct	p.P590S	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	590	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TACAATGTTTCCTGTGGGGAA	0.373000														83			12		0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887588	12887588	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:12887588C>T	uc001auk.2	-	2	465	c.269G>A	c.(268-270)aGg>aAg	p.R90K		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	90										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TGTTTTGTTCCTCTTGGCATT	0.478000														548			42		0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113832328	113832328	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:113832328C>T	uc002tiu.3	+	3	222	c.147C>T	c.(145-147)ggC>ggT	p.G49G	IL1F10_uc002tiv.3_Silent_p.G49G|IL1F10_uc002tiw.3_Silent_p.G41G	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN	Homo sapiens interleukin 1 family, member 10 (theta) (IL1F10), transcript variant 2, mRNA.	49						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						CTAACAGAGGCTTGGCCCGCA	0.577000														119			11		0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200867506	200867506	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:200867506C>T	uc001gvo.3	+	1	275	c.233C>T	c.(232-234)gCc>gTc	p.A78V	C1orf106_uc010ppm.2_5'UTR	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	78										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CTGCTCTGTGCCCTCTCCTTC	0.547000														105			33		0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657506	143657506	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:143657506C>T	uc003wds.1	+	0	487	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	148					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)					GCCATCACATCCTGGGTCAGT	0.532000														118			17		0	0	1	0	0
GPR113	165082	broad.mit.edu	37	2	26533598	26533598	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:26533598C>T	uc002rhe.4	-	10	2998	c.2998G>A	c.(2998-3000)Gtc>Atc	p.V1000I	GPR113_uc010yky.1_Missense_Mutation_p.V931I|GPR113_uc002rhb.1_Missense_Mutation_p.V603I|GPR113_uc010eyk.1_Missense_Mutation_p.V801I|GPR113_uc002rhc.1_Missense_Mutation_p.V603I|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	1000					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAATGAGGGACCGTGGAGACT	0.532000														24			8		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101816055	101816055	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:101816055C>T	uc003knn.3	-	1	614	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	SLCO6A1_uc003kno.3_Missense_Mutation_p.E148K|SLCO6A1_uc003knp.3_Missense_Mutation_p.E148K|SLCO6A1_uc003knq.3_Missense_Mutation_p.E148K	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	148						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TAACTCTTTTCCAATGCCAAC	0.343000														88			6		0	0	1	0	0
RCC2	55920	broad.mit.edu	37	1	17748706	17748706	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:17748706G>A	uc001bal.3	-	4	786	c.737C>T	c.(736-738)cCc>cTc	p.P246L	RCC2_uc001bam.3_Missense_Mutation_p.P246L	NM_001136204	NP_061185	Q9P258	RCC2_HUMAN	Homo sapiens regulator of chromosome condensation 2 (RCC2), transcript variant 2, mRNA.	246					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		CACCTGCGCGGGGCTGGGAAC	0.507000														85			13		0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368758	22368758	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:22368758C>T	uc010tzu.2	+	0	281	c.183C>T	c.(181-183)ttC>ttT	p.F61F	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTATGTATTTCCTGTTGGCTA	0.388000														855			52		0	0	1	0	0
PHGDH	26227	broad.mit.edu	37	1	120263824	120263824	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:120263824C>T	uc001ehz.3	+	1	397	c.170C>T	c.(169-171)aCc>aTc	p.T57I	PHGDH_uc009whl.3_5'UTR|PHGDH_uc009whm.3_5'UTR|PHGDH_uc001eib.3_Missense_Mutation_p.T23I	NM_006623	NP_006614	O43175	SERA_HUMAN	Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA.	57					L-serine biosynthetic process|brain development		NAD binding|electron carrier activity|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CGCTCTGCCACCAAGGTGACC	0.532000														126			15		0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092802	151092802	+	Silent	SNP	C	T	T	rs143502348		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:151092802C>T	uc022cgv.1	+	0	666	c.666C>T	c.(664-666)atC>atT	p.I222I	MAGEA4_uc004fez.3_Silent_p.I222I|MAGEA4_uc004ffa.3_Silent_p.I222I|MAGEA4_uc004ffb.3_Silent_p.I222I|MAGEA4_uc022cgu.1_Silent_p.I250I|MAGEA4_uc004ffc.3_Silent_p.I222I|MAGEA4_uc004ffd.3_Silent_p.I222I	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	222	MAGE.						protein binding	p.E221K(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAGGAAATCTGGGAGGAGC	0.547000														81			19		0	0	1	0	0
CCRL2	9034	broad.mit.edu	37	3	46450371	46450371	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:46450371C>A	uc010hjg.3	+	1	950	c.837C>A	c.(835-837)ttC>ttA	p.F279L	CCRL2_uc003cpp.4_Missense_Mutation_p.F267L|CCRL2_uc010hjf.3_Missense_Mutation_p.F267L|CCRL2_uc021wxc.1_Missense_Mutation_p.F267L	NM_001130910	NP_003956	O00421	CCRL2_HUMAN	Homo sapiens chemokine (C-C motif) receptor-like 2 (CCRL2), transcript variant 2, mRNA.	267					chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		AAGAACACTTCTCCCTGAGTG	0.453000														427			45		3.4345e-17	3.49752e-17	1	1	0
IL2RB	3560	broad.mit.edu	37	22	37539645	37539645	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:37539645G>T	uc003aqv.1	-	2	250	c.119C>A	c.(118-120)tCg>tAg	p.S40*		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	40					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GTTGGCTCTCGAGTTGTAGAA	0.607000														97			7		0.0293803	0.0294007	1	1	0
CACNA1D	776	broad.mit.edu	37	3	53844128	53844129	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:53844128_53844129CC>TT	uc003dgv.4	+	46	6158_6159	c.5995_5996CC>TT	c.(5995-5997)ccc>TTc	p.P1999F	CACNA1D_uc003dgu.4_Missense_Mutation_p.P2019F|CACNA1D_uc003dgy.4_Missense_Mutation_p.P1975F|CACNA1D_uc003dgw.4_Missense_Mutation_p.P1666F|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1999					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GTGCTACACCCCCCTGATCCAA	0.639000														81			11		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21063043	21063043	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:21063043G>A	uc010vbe.2	-	28	4186	c.4186C>T	c.(4186-4188)Ctg>Ttg	p.L1396L		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1396	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAGTTTCCCAGGTACTCATAG	0.552000														103			31		0	0	1	0	0
MOCS3	27304	broad.mit.edu	37	20	49576504	49576504	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:49576504G>A	uc002xvy.1	+	0	1142	c.1125G>A	c.(1123-1125)ctG>ctA	p.L375L	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.	375	Rhodanese.				Mo-molybdopterin cofactor biosynthetic process|enzyme active site formation via L-cysteine persulfide|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|URM1 activating enzyme activity|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						ACATCCCTCTGAAACATTTGG	0.537000														275			25		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10112453	10112453	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:10112453C>T	uc002mmq.1	-	6	1040	c.954G>A	c.(952-954)acG>acA	p.T318T		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	318	Nonhelical 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)			CCTCTAGGATCGTGGCATTGA	0.552000											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		134			7		0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40711415	40711415	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:40711415C>T	uc011aor.2	+	19	5018	c.4807C>T	c.(4807-4809)Cct>Tct	p.P1603S	TNRC6B_uc003aym.3_Missense_Mutation_p.P799S|TNRC6B_uc003ayn.4_Missense_Mutation_p.P1493S|TNRC6B_uc003ayo.3_Missense_Mutation_p.P1350S	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1603					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						CCGCCCACCTCCTGGTCTGAC	0.592000														67			8		0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41245117	41245117	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:41245117G>A	uc002icq.3	-	9	2663	c.2431C>T	c.(2431-2433)Ccc>Tcc	p.P811S	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.P740S|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.P764S|BRCA1_uc002ict.3_Missense_Mutation_p.P811S|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.P811S|BRCA1_uc002ide.1_Missense_Mutation_p.P642S|BRCA1_uc010cyy.1_Missense_Mutation_p.P811S|BRCA1_uc010whs.1_Missense_Mutation_p.P811S|BRCA1_uc010cyz.2_Missense_Mutation_p.P764S|BRCA1_uc010cza.2_Missense_Mutation_p.P785S|BRCA1_uc010wht.1_Missense_Mutation_p.P515S	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	811					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGTCCCTTGGGGTTTTCAAAT	0.413000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				307			21		0	0	1	0	0
AX747417	0	broad.mit.edu	37	3	95374389	95374389	+	RNA	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:95374389G>A	uc003dro.1	-	4		c.1473C>T								Homo sapiens cDNA FLJ34909 fis, clone NT2RI2009301, moderately similar to BIFUNCTIONAL METHYLENETETRAHYDROFOLATE DEHYDROGENASE/CYCLOHYDROLASE, MITOCHONDRIAL PRECURSOR.																		TTCATTACAGGAAAGCCATCA	0.443000														86			8		0	0	1	0	0
MSH4	4438	broad.mit.edu	37	1	76343955	76343955	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:76343955C>T	uc001dhd.2	+	10	1607	c.1492C>T	c.(1492-1494)Ctt>Ttt	p.L498F		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	498					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AAATGAATTTCTTGACATAGC	0.333000								Mismatch excision repair (MMR)						68			8		0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28296915	28296915	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr21:28296915C>T	uc002ymg.3	-	7	2979	c.2250G>A	c.(2248-2250)agG>agA	p.R750R		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	750	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CTTCAGGAATCCTCACCACGT	0.428000														126			26		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963377	73963377	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:73963377G>A	uc004eby.3	-	2	1632	c.1015C>T	c.(1015-1017)Ccc>Tcc	p.P339S		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	339					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AAGACGCTGGGAAAAAAGTTG	0.458000														65			26		0	0	1	0	0
ALCAM	214	broad.mit.edu	37	3	105290735	105290735	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:105290735G>A	uc003dvx.3	+	14	2400	c.1704G>A	c.(1702-1704)atG>atA	p.M568I	ALCAM_uc003dvy.3_Missense_Mutation_p.M555I|ALCAM_uc010hpp.3_Missense_Mutation_p.M290I|ALCAM_uc003dvz.3_Missense_Mutation_p.M202I	NM_001627	NP_001618	Q13740	CD166_HUMAN	Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.	568					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TCGGTAATATGGAAGAAAACA	0.338000														41			7		0	0	1	0	0
PPP1R11	6992	broad.mit.edu	37	6	30037058	30037058	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:30037058C>T	uc003npb.3	+	2	612	c.356C>T	c.(355-357)cCc>cTc	p.P119L	PPP1R11_uc010jrw.3_Non-coding_Transcript|PPP1R11_uc003npc.3_Non-coding_Transcript	NM_021959	NP_068778	O60927	PP1RB_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 11 (PPP1R11), mRNA.	119	Pro-rich.					soluble fraction	protein binding|protein phosphatase inhibitor activity			lung(2)|ovary(1)|prostate(1)|skin(2)	6						CCTTCCCAGCCCCCTCCAGGG	0.612000														102			5		0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105372776	105372776	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:105372776G>A	uc010qqu.1	-	8	904	c.837C>T	c.(835-837)gcC>gcT	p.A279A	SH3PXD2A_uc010qqr.2_Silent_p.A226A|SH3PXD2A_uc010qqs.1_Silent_p.A171A|SH3PXD2A_uc010qqt.1_Silent_p.A213A|SH3PXD2A_uc009xxn.1_Silent_p.A171A|SH3PXD2A_uc001kxj.1_Silent_p.A336A	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	364	SH3 2.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CCTCGCCTTCGGCTGGTGGAG	0.587000														97			9		0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924150	188924150	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:188924150C>T	uc003izh.1	+	3	597	c.189C>T	c.(187-189)ctC>ctT	p.L63L	ZFP42_uc003izi.1_Silent_p.L63L|ZFP42_uc021xvm.1_Silent_p.L63L	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	63					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CTCAGGCTCTCGGAGGGGATG	0.512000														101			6		0	0	1	0	0
TAF1B	9014	broad.mit.edu	37	2	10008442	10008442	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:10008442G>C	uc002qzz.3	+	5	537	c.437G>C	c.(436-438)aGt>aCt	p.S146T	TAF1B_uc010exc.2_Missense_Mutation_p.S146T|TAF1B_uc002qzy.4_Missense_Mutation_p.S146T|TAF1B_uc010yja.2_5'UTR|TAF1B_uc010exd.3_5'UTR	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa (TAF1B), mRNA.	146					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GACTGGGCTAGTGAGCCTGAG	0.398000														51			8		0	0	1	0	0
HIST1H4C	8364	broad.mit.edu	37	6	26104256	26104256	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:26104256C>T	uc003ngi.3	+	0	81	c.81C>T	c.(79-81)atC>atT	p.I27I		NM_003542	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4c (HIST1H4C), mRNA.	27					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						GGGATAACATCCAGGGCATTA	0.562000														95			5		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241676513	241676513	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:241676513G>A	uc010fzk.3	-	37	4221	c.3974C>T	c.(3973-3975)tCt>tTt	p.S1325F	KIF1A_uc002vzy.3_Missense_Mutation_p.S1224F|KIF1A_uc002vzz.2_Missense_Mutation_p.S1325F	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	1224					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GTATCCGGAAGAGAGGATGTT	0.607000														129			12		0	0	1	0	0
OXGR1	27199	broad.mit.edu	37	13	97639743	97639743	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr13:97639743G>A	uc001vmx.1	-	3	515	c.271C>T	c.(271-273)Cac>Tac	p.H91Y	OXGR1_uc010afr.1_Missense_Mutation_p.H91Y|OXGR1_uc021rlr.1_Missense_Mutation_p.H91Y	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) receptor 1 (OXGR1), mRNA.	91						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			GCATAGTAGTGAATCAGGAAG	0.453000														54			6		0	0	1	0	0
S100PBP	64766	broad.mit.edu	37	1	33292228	33292228	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:33292228C>T	uc001bvz.3	+	2	805	c.528C>T	c.(526-528)tcC>tcT	p.S176S	S100PBP_uc001bwa.1_Silent_p.S176S|S100PBP_uc001bwb.1_Silent_p.S176S|S100PBP_uc001bwc.3_Silent_p.S176S|S100PBP_uc001bwd.3_Non-coding_Transcript	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	Homo sapiens S100P binding protein (S100PBP), transcript variant 1, mRNA.	176						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AACTCTCTTCCCTTGGAGAAG	0.418000														99			8		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145379738	145379738	+	Missense_Mutation	SNP	G	A	A	rs150323691		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:145379738G>A	uc003lnt.3	+	2	734	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	SH3RF2_uc011dbl.1_Missense_Mutation_p.E166K	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	166	SH3 1.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTACCAGGGGGAAATCAATGG	0.547000														79			8		0	0	1	0	0
ZNF829	374899	broad.mit.edu	37	19	37383142	37383142	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:37383142T>C	uc021utr.1	-	5	861	c.794A>G	c.(793-795)tAt>tGt	p.Y265C	ZNF345_uc002oez.2_Intron|ZNF829_uc002ofa.2_Missense_Mutation_p.Y184C	NM_001171979	NP_001165450	Q3KNS6	ZN829_HUMAN	Homo sapiens zinc finger protein 829 (ZNF829), transcript variant 1, mRNA.	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTAGATTCATAGTGTTTTTC	0.373000														53			6		0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44272258	44272258	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:44272258G>A	uc010jza.1	-	12	1768	c.1765C>T	c.(1765-1767)Cca>Tca	p.P589S	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA.	589					alanyl-tRNA aminoacylation	mitochondrion	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CGGGCTACTGGGAACAGCACG	0.617000											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			9		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126249523	126249523	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:126249523C>T	uc003vlr.2	-	6	1698	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.E463K|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	463					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.E463K(2)|p.N462N(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCTCCGTTTTCATTAAAAGTG	0.378000										HNSCC(24;0.065)				69			22		0	0	1	0	0
OMA1	115209	broad.mit.edu	37	1	59004619	59004619	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:59004619G>A	uc001cyy.3	-	1	436	c.348C>T	c.(346-348)gtC>gtT	p.V116V	DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Silent_p.V116V|OMA1_uc009vzz.3_Silent_p.V116V	NM_145243	NP_660286	Q96E52	OMA1_HUMAN	Homo sapiens OMA1 zinc metallopeptidase homolog (S. cerevisiae) (OMA1), mRNA.	116					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					ACAGACTAGGGACTGCTGTAA	0.418000														113			11		0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74288159	74288159	+	Silent	SNP	T	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:74288159T>C	uc002jrd.1	-	3	2331	c.2151A>G	c.(2149-2151)caA>caG	p.Q717Q	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	717	Gln-rich.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						ccattccaggttggaccaaac	0.567000														92			12		0	0	1	0	0
BRF1	2972	broad.mit.edu	37	14	105684023	105684023	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:105684023G>A	uc001yqp.2	-	14	1993	c.1630C>T	c.(1630-1632)Cgg>Tgg	p.R544W	BRF1_uc010tyo.1_Missense_Mutation_p.R429W|BRF1_uc010typ.1_Missense_Mutation_p.R451W|BRF1_uc001yqk.2_Missense_Mutation_p.R70W|BRF1_uc001yql.2_Missense_Mutation_p.R340W|BRF1_uc001yqo.2_Missense_Mutation_p.R306W|BRF1_uc010axg.1_Missense_Mutation_p.R517W|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_Missense_Mutation_p.R70W	NM_001519	NP_663718	Q92994	TF3B_HUMAN	Homo sapiens BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae) (BRF1), transcript variant 1, mRNA.	544					positive regulation of transcription, DNA-dependent|rRNA transcription|tRNA transcription|transcription initiation from RNA polymerase III promoter	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CTGAGGCCCCGGAGCACGCTA	0.637000														46			4		0	0	1	0	0
C1orf141	400757	broad.mit.edu	37	1	67561094	67561094	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:67561094G>A	uc001ddl.1	-	5	538	c.427C>T	c.(427-429)Cca>Tca	p.P143S	C1orf141_uc001ddm.1_Missense_Mutation_p.P143S|C1orf141_uc001ddn.1_Intron	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	Homo sapiens chromosome 1 open reading frame 141 (C1orf141), mRNA.	143										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TTCATCTGTGGAGATTTTTTT	0.368000														16			4		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1499771	1499771	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:1499771G>A	uc002qwr.3	+	11	2103	c.2017G>A	c.(2017-2019)Gag>Aag	p.E673K	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.E673K|TPO_uc002qwx.3_Missense_Mutation_p.E616K|TPO_uc002qwu.3_Missense_Mutation_p.E616K|TPO_uc010yio.2_Missense_Mutation_p.E500K|TPO_uc010yip.2_Missense_Mutation_p.E673K|TPO_uc002qwy.1_Missense_Mutation_p.E13K|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	673					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GTTTTGGTGGGAGAACAGCCA	0.587000														34			3		0	0	1	0	0
AP3B1	8546	broad.mit.edu	37	5	77452119	77452119	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:77452119A>T	uc003kfj.3	-	13	1561	c.1436T>A	c.(1435-1437)aTt>aAt	p.I479N		NM_003664	NP_003655	O00203	AP3B1_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.	479					endocytosis|melanosome organization	Golgi apparatus|clathrin coated vesicle membrane|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ATGTTTAATAATTTCACCATG	0.299000									Hermansky-Pudlak syndrome					78			5		0	0	1	0	0
MARCH1	55016	broad.mit.edu	37	4	164506928	164506928	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:164506928C>T	uc003iqs.2	-	5	578	c.396G>A	c.(394-396)atG>atA	p.M132I	MARCH1_uc003iqr.2_Missense_Mutation_p.M115I	NM_001166373	NP_001159845	Q8TCQ1	MARH1_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA.	132					antigen processing and presentation of peptide antigen via MHC class II|immune response	Golgi apparatus|cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.T131T(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GCTTGGTCTCCATTATGAAGT	0.483000														105			6		0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141046037	141046037	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:141046037G>A	uc003llm.3	-	16	2604	c.2526C>T	c.(2524-2526)ccC>ccT	p.P842P	ARAP3_uc003lll.3_5'UTR|ARAP3_uc011dbe.2_Silent_p.P504P|ARAP3_uc003lln.3_Silent_p.P744P	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	842					cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CAGGGGCTGGGGGGCCTGGGC	0.672000														16			3		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809632	18809632	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:18809632C>T	uc001bax.3	+	0	2209	c.2157C>T	c.(2155-2157)gcC>gcT	p.A719A	KLHDC7A_uc009vpg.3_Silent_p.A501A	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	719						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAGTGCGCCGTGGTGGACA	0.652000														71			10		0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2877928	2877928	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:2877928C>T	uc002lwp.1	+	3	1059	c.972C>T	c.(970-972)ttC>ttT	p.F324F	ZNF556_uc002lwq.3_Silent_p.F323F	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	324					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)		GGAAAGCATTCGGTTGGCCCT	0.532000														47			9		0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74901259	74901259	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:74901259C>T	uc002jti.3	+	5	835	c.732C>T	c.(730-732)ttC>ttT	p.F244F	MGAT5B_uc002jth.3_Silent_p.F233F	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	233						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGCAGTTTTCCGAAGCAACC	0.637000														44			4		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451281	55451281	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:55451281C>T	uc002qih.4	-	3	982	c.906G>A	c.(904-906)cgG>cgA	p.R302R	NLRP7_uc010esk.3_Silent_p.R302R|NLRP7_uc002qig.4_Silent_p.R302R|NLRP7_uc002qii.4_Silent_p.R302R|NLRP7_uc010esl.3_Silent_p.R330R	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	302	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTGCCCTGGGCCGCGTGGTGA	0.632000														61			5		0	0	1	0	0
SMR3A	26952	broad.mit.edu	37	4	71232595	71232595	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:71232595C>T	uc003hfg.1	+	2	370	c.289C>T	c.(289-291)Cct>Tct	p.P97S	SMR3A_uc011cas.2_Intron	NM_012390	NP_036522	Q99954	SMR3A_HUMAN	Homo sapiens submaxillary gland androgen regulated protein 3A (SMR3A), mRNA.	97	Pro-rich.					extracellular region		p.P96L(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TCTTCCTCCTCCTTATGGCCC	0.547000														113			9		0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269428	150269428	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:150269428C>T	uc003whl.3	+	2	352	c.270C>T	c.(268-270)ttC>ttT	p.F90F	GIMAP4_uc011kuu.2_Intron|GIMAP4_uc011kuv.2_Silent_p.F104F	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	90							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGGCATTTTCGACACAGAGG	0.502000														76			26		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56092216	56092216	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:56092216G>A	uc001shh.3	-	6	1375	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	ITGA7_uc001shg.3_Silent_p.F381F|ITGA7_uc010sps.2_Silent_p.F288F|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Silent_p.F268F	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	425					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGCTGATCCCGAACATGGAGT	0.622000														42			9		0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28507568	28507568	+	Silent	SNP	T	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:28507568T>C	uc002dqb.2	+	1	1239	c.1206T>C	c.(1204-1206)gcT>gcC	p.A402A	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_5'UTR	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	393	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						TCCTAGAGGCTACTGGAAAAG	0.582000														47			6		0	0	1	0	0
GSTK1	373156	broad.mit.edu	37	7	142962358	142962358	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:142962358A>T	uc003wci.3	+	4	474	c.389A>T	c.(388-390)gAa>gTa	p.E130V	GSTK1_uc011ksy.2_Missense_Mutation_p.E87V|GSTK1_uc003wcj.3_Missense_Mutation_p.E186V|GSTK1_uc011ksz.2_Intron	NM_015917	NP_057001	Q9Y2Q3	GSTK1_HUMAN	Homo sapiens glutathione S-transferase kappa 1 (GSTK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	130						outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	TCCCAGAATGAAGACATCACC	0.592000														9			5		0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143790872	143790872	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:143790872C>T	uc010fnm.3	+	12	1239	c.1023C>T	c.(1021-1023)tcC>tcT	p.S341S	KYNU_uc002tvl.3_Silent_p.S341S	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	341					NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	TGGTCTGTTCCTTGCATGCTA	0.383000														217			33		0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122839998	122839998	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:122839998C>T	uc003vkm.3	-	0	28	c.3G>A	c.(1-3)atG>atA	p.M1I	SLC13A1_uc010lks.3_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	1						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TGAAGAATTTCATTGTCCTGA	0.423000														47			7		0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36298315	36298315	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:36298315C>T	uc003oly.3	-	1	331	c.153G>A	c.(151-153)acG>acA	p.T51T		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	51										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						AATCACTGGTCGTCCAGTGAA	0.652000														92			11		0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	150004748	150004748	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:150004748G>A	uc003qmu.1	-	3	2025	c.1477C>T	c.(1477-1479)Cct>Tct	p.P493S	LATS1_uc010kif.1_Missense_Mutation_p.P388S|LATS1_uc003qmv.2_Missense_Mutation_p.P493S|LATS1_uc003qmw.3_Missense_Mutation_p.P493S|LATS1_uc010kig.1_Missense_Mutation_p.P388S	NM_004690	NP_004681	O95835	LATS1_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 1 (Drosophila) (LATS1), mRNA.	493					G2/M transition of mitotic cell cycle|cell division|cytoplasmic sequestering of protein|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TGTTGAATAGGAGCTGGTGTA	0.418000														195			12		0	0	1	0	0
ZNF611	81856	broad.mit.edu	37	19	53209718	53209718	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:53209718G>A	uc002pzz.3	-	6	907	c.590C>T	c.(589-591)tCc>tTc	p.S197F	ZNF611_uc010eqc.3_Missense_Mutation_p.S127F|ZNF611_uc010ydo.2_Missense_Mutation_p.S127F|ZNF611_uc010ydp.2_Missense_Mutation_p.S197F|ZNF611_uc010ydq.2_Missense_Mutation_p.S197F|ZNF611_uc010ydr.2_Missense_Mutation_p.S128F|ZNF611_uc002qaa.4_Missense_Mutation_p.S127F|ZNF611_uc021uyy.1_Missense_Mutation_p.S128F	NM_030972	NP_001154973	Q8N823	ZN611_HUMAN	Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA.	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I196M(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GGGCCTACAGGAAATTCTTTG	0.383000														229			12		0	0	1	0	0
SIRT1	23411	broad.mit.edu	37	10	69672350	69672350	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:69672350T>G	uc001jnd.3	+	7	1530	c.1477T>G	c.(1477-1479)Tta>Gta	p.L493V	SIRT1_uc010qis.2_Missense_Mutation_p.L198V|SIRT1_uc009xpp.3_Missense_Mutation_p.L301V|SIRT1_uc001jne.3_Missense_Mutation_p.L190V	NM_012238	NP_001135970	Q96EB6	SIRT1_HUMAN	Homo sapiens sirtuin 1 (SIRT1), transcript variant 1, mRNA.	493	Deacetylase sirtuin-type.				DNA repair|DNA replication|apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of DNA repair|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|rRNA processing|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	PML body|chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|rDNA heterochromatin	HLH domain binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|bHLH transcription factor binding|histone binding|identical protein binding|mitogen-activated protein kinase binding|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						GTGTCATAGGTTAGGTGGTGA	0.363000														87			11		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34642950	34642950	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:34642950G>A	uc010ucc.2	+	3	1237	c.855G>A	c.(853-855)ctG>ctA	p.L285L	C15orf55_uc010ucd.2_Silent_p.L275L|C15orf55_uc001zif.3_Silent_p.L257L	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	257						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		CTATGACCCTGGAGGAGGGAC	0.542000			T	"""BRD3, BRD4"""	lethal midline carcinoma									83			9		0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75407604	75407604	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:75407604C>T	uc001jut.4	-	3	1958	c.1806G>A	c.(1804-1806)ggG>ggA	p.G602G	SYNPO2L_uc001jus.4_Silent_p.G378G	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.	602	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GCTCAGGAGCCCCTGGGCCTG	0.706000														59			6		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043690	20043690	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:20043690G>A	uc002dgu.1	-	1	591	c.429C>T	c.(427-429)gcC>gcT	p.A143A	GPR139_uc010vaw.1_Silent_p.A50A	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	143						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TCCGGGTGCGGGCTGGGTATG	0.507000														174			15		0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150554207	150554207	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:150554207C>T	uc003why.1	+	2	4867	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L	ABP1_uc003whz.1_Silent_p.L217L|ABP1_uc003wia.1_Silent_p.L217L	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	217					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CCCCACTGGGCTGGAGCTCCT	0.612000														85			28		0	0	1	0	0
LIN28B	389421	broad.mit.edu	37	6	105406088	105406088	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:105406088G>A	uc003pqv.1	+	1	328	c.125G>A	c.(124-126)gGa>gAa	p.G42E	LIN28B_uc010kda.1_Missense_Mutation_p.G2E	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN	Homo sapiens lin-28 homolog B (C. elegans) (LIN28B), mRNA.	42	CSD.				RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|protein binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				GTGCGCATGGGATTTGGATTC	0.527000														116			10		0	0	1	0	0
RFWD2	64326	broad.mit.edu	37	1	175957507	175957507	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:175957507G>A	uc001gku.1	-	16	2145	c.1889C>T	c.(1888-1890)cCa>cTa	p.P630L	RFWD2_uc001gkv.1_Missense_Mutation_p.P606L|RFWD2_uc001gkw.1_Missense_Mutation_p.P390L|RFWD2_uc009wwv.2_Missense_Mutation_p.P429L|RFWD2_uc001gkt.1_Missense_Mutation_p.P469L	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	Homo sapiens ring finger and WD repeat domain 2 (RFWD2), transcript variant 1, mRNA.	630					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TAGGCAGTATGGTTTCCCTAC	0.393000														51			17		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070016	9070017	+	Missense_Mutation	DNP	AG	GT	GT			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:9070016_9070017AG>GT	uc002mkp.3	-	2	17633_17634	c.17429_17430CT>AC	c.(17428-17430)act>aAC	p.T5810N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5812	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTCAGTAGTAGTAGTAGTGGG	0.480000														120			7		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198725108	198725108	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:198725108A>G	uc001gur.1	+	32	3893	c.3713A>G	c.(3712-3714)aAc>aGc	p.N1238S	PTPRC_uc001gut.1_Missense_Mutation_p.N1077S	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	1238					B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AAGAAAAACAACCATCAAGAA	0.378000														75			24		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32073987	32073987	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:32073987G>A	uc003jhl.3	+	17	3163	c.2775G>A	c.(2773-2775)ggG>ggA	p.G925G	PDZD2_uc003jhm.3_Silent_p.G925G|PDZD2_uc011cnx.1_Silent_p.G751G	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	925					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGACTCTTGGGAGCCATCGGG	0.592000														166			14		0	0	1	0	0
EXO1	9156	broad.mit.edu	37	1	242042459	242042459	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:242042459C>T	uc021plj.1	+	10	2237	c.1923C>T	c.(1921-1923)acC>acT	p.T641T	EXO1_uc001hzh.3_Silent_p.T641T|EXO1_uc009xgq.3_Silent_p.T640T|EXO1_uc021plk.1_Silent_p.T641T	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.	641	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			ATTCCCCCACCTCTTTGCCTG	0.493000								Editing and processing nucleases						102			5		0	0	1	0	0
ERAS	3266	broad.mit.edu	37	X	48688111	48688111	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:48688111C>T	uc004dky.1	+	0	829	c.578C>T	c.(577-579)tCc>tTc	p.S193F		NM_181532	NP_853510	Q7Z444	RASE_HUMAN	Homo sapiens ES cell expressed Ras (ERAS), mRNA.	193					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						GAGGCCTTTTCCCTGCTGGTC	0.647000														9			3		0	0	1	0	0
C2orf40	84417	broad.mit.edu	37	2	106690491	106690491	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:106690491G>A	uc010fjf.3	+	2	385	c.277G>A	c.(277-279)Gac>Aac	p.D93N		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	Homo sapiens chromosome 2 open reading frame 40 (C2orf40), mRNA.	93						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						CATGGGCTTTGACGAAGCGGT	0.607000														115			9		0	0	1	0	0
TMEM150C	441027	broad.mit.edu	37	4	83417246	83417246	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:83417246C>T	uc011ccj.1	-	5	543	c.428G>A	c.(427-429)gGa>gAa	p.G143E	TMEM150C_uc003hmy.1_Missense_Mutation_p.G113E	NM_001080506	NP_001073975	B9EJG8	T150C_HUMAN	Homo sapiens transmembrane protein 150C (TMEM150C), mRNA.	113						integral to membrane				ovary(1)	1						TAAGGTCATTCCGAAGGAAGC	0.443000														60			11		0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764524	138764525	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:138764524_138764525AG>GA	uc003vun.3	-	3	1550_1551	c.1162_1163CT>TC	c.(1162-1164)ctt>TCt	p.L388S	ZC3HAV1_uc003vuo.3_5'Flank|ZC3HAV1_uc003vup.3_Missense_Mutation_p.L388S	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	388					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CAGAGAGCCAAGAGAAGAGCGG	0.545000														144			15		0	0	1	0	0
MTERFD2	130916	broad.mit.edu	37	2	242039037	242039037	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:242039037G>A	uc002wan.1	-	0	874	c.381C>T	c.(379-381)tcC>tcT	p.S127S	MTERFD2_uc010zoj.1_Intron|MTERFD2_uc010zok.1_Silent_p.S98S	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN	Homo sapiens MTERF domain containing 2 (MTERFD2), transcript variant 1, mRNA.	98										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		TGTCCAGGAGGGAACTCATGA	0.498000														138			23		0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30889744	30889745	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:30889744_30889745CC>TT	uc011dmz.2	+	18	1949_1950	c.1868_1869CC>TT	c.(1867-1869)ccc>cTT	p.P623L	VARS2_uc003nsc.2_Missense_Mutation_p.P593L|VARS2_uc011dmx.2_Missense_Mutation_p.P593L|VARS2_uc011dmy.2_Missense_Mutation_p.P453L|VARS2_uc011dna.2_Missense_Mutation_p.P591L|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Intron|VARS2_uc011dnd.2_Missense_Mutation_p.L9F|VARS2_uc010jsg.2_Intron|VARS2_uc010jsh.2_5'Flank	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	593					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GCCCTGTTCCCCTTTTCTGCCC	0.550000														147			12		0	0	1	0	0
KIAA0247	9766	broad.mit.edu	37	14	70175426	70175426	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:70175426C>T	uc001xlk.3	+	4	807	c.491C>T	c.(490-492)tCc>tTc	p.S164F	KIAA0247_uc010aqz.3_Missense_Mutation_p.S139F	NM_014734	NP_055549	Q92537	K0247_HUMAN	Homo sapiens KIAA0247 (KIAA0247), mRNA.	164						integral to membrane				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		GACCAGGTCTCCATCATGGTG	0.507000														96			5		0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35333222	35333222	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:35333222T>C	uc001byc.3	-	7	2492	c.2492A>G	c.(2491-2493)gAg>gGg	p.E831G		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	831					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GCGGATCTTCTCCAGGACTAG	0.547000														131			9		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50532604	50532604	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:50532604C>T	uc021pqb.1	+	0	2014	c.2014C>T	c.(2014-2016)Ctc>Ttc	p.L672F	C10orf71_uc021pqa.1_Missense_Mutation_p.L671F|C10orf71_uc021pqc.1_Missense_Mutation_p.L672F	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	672										endometrium(1)	1						AGAGAATGGGCTCTCCAGATC	0.537000														50			4		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140793903	140793903	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:140793903C>T	uc003lkl.2	+	0	1161	c.1161C>T	c.(1159-1161)acC>acT	p.T387T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Silent_p.T387T	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	386	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGGTAACCTGTTCCATTT	0.418000														68			5		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90408708	90408708	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:90408708G>A	uc003pnn.1	-	58	9160	c.9044C>T	c.(9043-9045)tCc>tTc	p.S3015F		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	3015					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CATAAACATGGAATTAAATAA	0.413000														65			5		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10429184	10429184	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:10429184C>T	uc010coi.3	-	30	4325	c.4197G>A	c.(4195-4197)ctG>ctA	p.L1399L	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.L1399L|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.	1399					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						GCCGCTGGGCCAGCTTCTTCC	0.468000														53			6		0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37898582	37898582	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:37898582C>T	uc002hsr.3	+	1	303	c.28C>T	c.(28-30)Ctt>Ttt	p.L10F	GRB7_uc002hss.3_Missense_Mutation_p.L10F|GRB7_uc021twu.1_Missense_Mutation_p.L33F|GRB7_uc010cwc.3_Missense_Mutation_p.L10F|GRB7_uc002hst.3_Missense_Mutation_p.L10F	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	10					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCCACCTCATCTTAGCAGCTC	0.607000														221			9		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31299732	31299732	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:31299732C>T	uc003jhe.2	+	4	1165	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	CDH6_uc003jhd.2_Missense_Mutation_p.P269S	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	269	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			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						TCCCCGATTCCCCCAGAGTAG	0.413000														100			5		0	0	1	0	0
LIPK	643414	broad.mit.edu	37	10	90499824	90499824	+	Splice_Site	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:90499824G>A	uc010qmv.2	+	7	888	c.888_splice	c.e7+1	p.Q296_splice		NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN	Homo sapiens lipase, family member K (LIPK), mRNA.	296					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		ACTGGGCTCAGGTAAGTGCTT	0.483000														56			4		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34554592	34554592	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:34554592C>T	uc001bxm.1	-	1	567	c.390G>A	c.(388-390)gaG>gaA	p.E130E	CSMD2_uc001bxn.1_Silent_p.E90E	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	90	CUB 1.					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)				TACGCAGATTCTCTGGCTGGG	0.537000														55			4		0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32156802	32156802	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:32156802G>A	uc001btk.1	-	19	1789	c.1424C>T	c.(1423-1425)cCc>cTc	p.P475L	COL16A1_uc001btj.1_Missense_Mutation_p.P304L|COL16A1_uc001btl.4_Missense_Mutation_p.P475L	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	475	Triple-helical region 9 (COL9) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GTCTCCCTTGGGGCCTGGTGG	0.622000														124			17		0	0	1	0	0
RHOU	58480	broad.mit.edu	37	1	228873460	228873460	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:228873460C>T	uc001htf.3	+	1	969	c.303C>T	c.(301-303)ctC>ctT	p.L101L	RHOU_uc021pkj.1_Non-coding_Transcript	NM_021205	NP_067028	Q7L0Q8	RHOU_HUMAN	Homo sapiens ras homolog gene family, member U (RHOU), transcript variant 1, mRNA.	101					regulation of small GTPase mediated signal transduction	Golgi membrane|cell projection|cytosol|focal adhesion|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				GACTCCAACTCTGTGACACTG	0.463000														57			9		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39798746	39798746	+	Silent	SNP	T	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:39798746T>C	uc021olw.1	+	0	1806	c.1806T>C	c.(1804-1806)ccT>ccC	p.P602P	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2167					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AACATCAACCTCTAAGAAACA	0.423000														65			5		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14740157	14740157	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:14740157G>A	uc003zlm.3	-	36	7146	c.6330C>T	c.(6328-6330)tcC>tcT	p.S2110S	FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Silent_p.S646S	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	2110	C-type lectin.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.R2109K(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTATCCAAAAGGACTTTCTCC	0.507000														72			15		0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158400981	158400981	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:158400981G>A	uc002tzk.4	-	4	1162	c.919C>T	c.(919-921)Cat>Tat	p.H307Y	ACVR1C_uc002tzl.4_Missense_Mutation_p.H227Y|ACVR1C_uc010fof.3_Missense_Mutation_p.H150Y|ACVR1C_uc010foe.3_Missense_Mutation_p.H257Y	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.	307	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	ATP binding|activin receptor activity, type I|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						ATCTCCATATGAAGGTGTGCC	0.363000														100			9		0	0	1	0	0
ACPL2	92370	broad.mit.edu	37	3	141011447	141011447	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:141011447C>T	uc003etu.3	+	7	1142	c.843C>T	c.(841-843)atC>atT	p.I281I	ACPL2_uc003etv.3_Silent_p.I281I|ACPL2_uc011bna.2_Silent_p.I243I|ACPL2_uc011bnb.2_Silent_p.I264I	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	Homo sapiens acid phosphatase-like 2 (ACPL2), transcript variant 1, mRNA.	281						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						TGGCCAAGATCGTGGATGTCC	0.527000														85			7		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193052747	193052747	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:193052747C>T	uc011bsq.2	-	9	1085	c.1085G>A	c.(1084-1086)gGg>gAg	p.G362E		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	362					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TCGTACAGGCCCCTGCCCAGA	0.443000														109			14		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8197066	8197067	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:8197066_8197067CC>TT	uc003wsh.4	-	2	2241_2242	c.2241_2242GG>AA	c.(2239-2244)aggggt>agAAgt	p.G748S		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	748							ATP binding|non-membrane spanning protein tyrosine kinase activity										ACGTGGACACCCCTGAAGGATG	0.540000														70			15		0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143513897	143513897	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:143513897C>T	uc003evn.3	-	3	688	c.479G>A	c.(478-480)gGa>gAa	p.G160E	SLC9A9_uc011bnk.2_Missense_Mutation_p.G34E	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	160					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TAAAATAGATCCTAAGTTTTG	0.373000														89			15		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160100050	160100050	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:160100050G>A	uc001fvc.3	+	11	1752	c.1620G>A	c.(1618-1620)atG>atA	p.M540I	ATP1A2_uc001fvb.2_Missense_Mutation_p.M540I|ATP1A2_uc001fvd.3_Missense_Mutation_p.M276I|ATP1A2_uc009wtg.1_Missense_Mutation_p.M228I	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	540					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ATGCCTACATGGAGCTGGGGG	0.617000														99			25		0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110587950	110587950	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:110587950G>A	uc010mcp.3	-	7	1539	c.1177C>T	c.(1177-1179)Cca>Tca	p.P393S	SYBU_uc003yni.4_Missense_Mutation_p.P390S|SYBU_uc003ynk.4_Missense_Mutation_p.P274S|SYBU_uc003ynj.4_Missense_Mutation_p.P393S|SYBU_uc010mco.3_Missense_Mutation_p.P392S|SYBU_uc003ynl.4_Missense_Mutation_p.P392S|SYBU_uc010mcq.3_Missense_Mutation_p.P393S|SYBU_uc003yno.4_Missense_Mutation_p.P274S|SYBU_uc010mcr.3_Missense_Mutation_p.P393S|SYBU_uc003ynm.4_Missense_Mutation_p.P392S|SYBU_uc003ynn.4_Missense_Mutation_p.P392S|SYBU_uc010mcs.3_Missense_Mutation_p.P274S|SYBU_uc010mct.3_Missense_Mutation_p.P393S|SYBU_uc010mcu.3_Missense_Mutation_p.P392S|SYBU_uc003ynp.4_Missense_Mutation_p.P325S|SYBU_uc010mcv.3_Missense_Mutation_p.P393S|SYBU_uc003ynh.4_Missense_Mutation_p.P187S|SYBU_uc011lhw.2_Missense_Mutation_p.P263S	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	393	Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A.					Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GAATCACATGGAAAGTCTAGG	0.522000														85			5		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786353	121786353	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:121786353C>T	uc003ksw.1	+	9	2017	c.1811C>T	c.(1810-1812)tCc>tTc	p.S604F	SNCAIP_uc011cwl.1_Missense_Mutation_p.S162F|SNCAIP_uc003ksy.1_Missense_Mutation_p.S238F|SNCAIP_uc003ksx.1_Missense_Mutation_p.S651F|SNCAIP_uc003ksz.1_Missense_Mutation_p.S238F|SNCAIP_uc010jcu.2_Missense_Mutation_p.S200F|SNCAIP_uc011cwm.1_Missense_Mutation_p.S238F|SNCAIP_uc003kta.1_Missense_Mutation_p.S236F|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.S298F|SNCAIP_uc010jcx.1_Missense_Mutation_p.S544F|BC029465_uc003ktb.1_Non-coding_Transcript|SNCAIP_uc003ktc.1_Missense_Mutation_p.S120F	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	604					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CTGTCAGCCTCCAGCCGGGCT	0.463000														120			7		0	0	1	0	0
TRIB2	28951	broad.mit.edu	37	2	12880729	12880729	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:12880729G>T	uc002rbv.4	+	2	2277	c.841G>T	c.(841-843)Gcc>Tcc	p.A281S	TRIB2_uc010yjp.2_Missense_Mutation_p.A145S	NM_021643	NP_067675	Q92519	TRIB2_HUMAN	Homo sapiens tribbles homolog 2 (Drosophila) (TRIB2), transcript variant 1, mRNA.	281	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTCGCCCAAGGCCAAGTGCCT	0.557000														69			8		7.48243e-07	7.59293e-07	1	1	0
ENTPD1	953	broad.mit.edu	37	10	97605144	97605144	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:97605144G>A	uc010qoj.2	+	5	703	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	ENTPD1_uc001kle.1_Missense_Mutation_p.E209K|ENTPD1_uc001kli.4_Missense_Mutation_p.E209K|LOC728558_uc001klg.2_Intron|ENTPD1_uc010qok.2_Missense_Mutation_p.E94K|ENTPD1_uc010qol.2_Missense_Mutation_p.E94K|ENTPD1_uc001klh.4_Missense_Mutation_p.E202K|ENTPD1_uc010qom.2_Missense_Mutation_p.E202K|ENTPD1_uc010qon.2_Missense_Mutation_p.E64K|ENTPD1_uc009xva.3_Missense_Mutation_p.E64K	NM_001164178	NP_001157655	P49961	ENTP1_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), transcript variant 3, mRNA.	202					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		AGTCCCATATGAAACCAATAA	0.443000														170			10		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815931	23815931	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:23815931G>A	uc003gqs.3	-	7	1295	c.1175C>T	c.(1174-1176)tCc>tTc	p.S392F	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	392					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTCTGTTTTGGAATTAATTGA	0.453000														73			7		0	0	1	0	0
HTRA4	203100	broad.mit.edu	37	8	38839232	38839232	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:38839232C>T	uc003xmj.3	+	5	1175	c.1060C>T	c.(1060-1062)Cct>Tct	p.P354S		NM_153692	NP_710159	P83105	HTRA4_HUMAN	Homo sapiens HtrA serine peptidase 4 (HTRA4), mRNA.	354	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CTTTGCAATTCCTTCAGATCG	0.433000														83			16		0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39171400	39171400	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:39171400G>A	uc004abi.3	-	7	1538	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	CNTNAP3_uc004abj.3_Silent_p.F433F|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Silent_p.F433F|CNTNAP3_uc011lqs.1_Silent_p.F433F	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	433	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTCCCGGCTGGAAGAGACTCA	0.473000														143			29		0	0	1	0	0
CRYZ	1429	broad.mit.edu	37	1	75188920	75188920	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:75188920G>A	uc001dgk.3	-	3	651	c.146C>T	c.(145-147)cCc>cTc	p.P49L	CRYZ_uc001dgj.3_Missense_Mutation_p.P49L|CRYZ_uc001dgl.3_Missense_Mutation_p.P49L|CRYZ_uc001dgm.3_5'UTR	NM_001130042	NP_001880	Q08257	QOR_HUMAN	Homo sapiens crystallin, zeta (quinone reductase) (CRYZ), transcript variant 1, mRNA.	49					protein homotetramerization|visual perception|xenobiotic catabolic process	Golgi apparatus|cytosol	NADPH binding|NADPH:quinone reductase activity|mRNA 3'-UTR binding|zinc ion binding	p.P49P(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	TGTCTCCACGGGGTTGACACC	0.423000														117			9		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511130	61511130	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:61511130C>T	uc002ydr.2	-	15	6490	c.6178G>A	c.(6178-6180)Gag>Aag	p.E2060K	DIDO1_uc002yds.2_Missense_Mutation_p.E2060K	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	2060					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.P2059A(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCGTCGGCCTCGGGGCCCTGT	0.687000														146			12		0	0	1	0	0
RHOU	58480	broad.mit.edu	37	1	228879114	228879114	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:228879114C>T	uc001htf.3	+	2	1070	c.404C>T	c.(403-405)tCc>tTc	p.S135F	RHOU_uc021pkj.1_Non-coding_Transcript	NM_021205	NP_067028	Q7L0Q8	RHOU_HUMAN	Homo sapiens ras homolog gene family, member U (RHOU), transcript variant 1, mRNA.	135					regulation of small GTPase mediated signal transduction	Golgi membrane|cell projection|cytosol|focal adhesion|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				AGCCCCTCATCCTTCCAGAAC	0.517000														214			8		0	0	1	0	0
LOC399815	399815	broad.mit.edu	37	10	124647786	124647786	+	Splice_Site	SNP	A	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:124647786A>T	uc001lgu.3	+	7	1052	c.154_splice	c.e7-1	p.N52_splice	LOC399815_uc010qua.1_Splice_Site_p.N14_splice					Homo sapiens chromosome 10 open reading frame 88 pseudogene (LOC399815), non-coding RNA.																		CTTGTTTAGAATTGTATTCCT	0.373000														28			4		0	0	1	0	0
HSPBAP1	79663	broad.mit.edu	37	3	122487727	122487727	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:122487727G>A	uc003efu.2	-	2	392	c.253C>T	c.(253-255)Cct>Tct	p.P85S	HSPBAP1_uc003efv.2_Missense_Mutation_p.P85S	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Homo sapiens HSPB (heat shock 27kDa) associated protein 1 (HSPBAP1), mRNA.	85						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TCAAACTGAGGAACTGCAATG	0.303000														40			4		0	0	1	0	0
SFXN1	94081	broad.mit.edu	37	5	174936156	174936156	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:174936156C>T	uc003mda.2	+	2	424	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	SFXN1_uc003mdb.1_Nonsense_Mutation_p.Q35*	NM_022754	NP_073591	Q9H9B4	SFXN1_HUMAN	Homo sapiens sideroflexin 1 (SFXN1), mRNA.	96					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AATGTCAGCCCAGGTTCCCAT	0.383000														177			14		0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55725806	55725806	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:55725806G>A	uc010spj.2	+	0	322	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T107I(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GGGGGTGACTGAATTTTACAT	0.428000														169			29		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234858708	234858708	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:234858708C>T	uc002vvh.3	+	8	1098	c.1058C>T	c.(1057-1059)gCc>gTc	p.A353V	TRPM8_uc010fyj.3_Missense_Mutation_p.A41V	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	353						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ACATCTTCTGCCGTCAAGGAG	0.547000														45			7		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11174405	11174405	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:11174405C>T	uc001asd.3	-	52	7391	c.7270G>A	c.(7270-7272)Gac>Aac	p.D2424N	MTOR_uc001asc.3_Missense_Mutation_p.D629N	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	2424	PI3K/PI4K.				T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.D2424H(2)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						AGCAAGGGGTCATAGACAAAG	0.537000														97			7		0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17672605	17672605	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:17672605G>A	uc001baj.2	+	8	1046	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	PADI4_uc009vpc.2_Missense_Mutation_p.E340K	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	340					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CTGCCCTGAGGAGGAGAACAT	0.552000														47			6		0	0	1	0	0
PARP16	54956	broad.mit.edu	37	15	65553276	65553276	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:65553276G>C	uc002aoq.3	-	4	1034	c.780C>G	c.(778-780)aaC>aaG	p.N260K	PARP16_uc002aoo.3_Missense_Mutation_p.N260K|PARP16_uc002aop.3_Missense_Mutation_p.N145K	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 16 (PARP16), mRNA.	260	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GCAGCAGCTGGTTATTGGTGA	0.488000														186			23		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189873781	189873781	+	Nonsense_Mutation	SNP	T	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:189873781T>A	uc002uqj.1	+	47	3774	c.3657T>A	c.(3655-3657)taT>taA	p.Y1219*		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1219					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTGCCCCGTATTATGGAGATG	0.488000														143			10		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49225893	49225893	+	Splice_Site	SNP	C	T	T	rs148332840		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:49225893C>T	uc010zyt.2	-	8	828	c.577_splice	c.e8-1	p.D193_splice	FAM65C_uc010zyu.1_Splice_Site|FAM65C_uc002xvm.3_Splice_Site_p.D189_splice|FAM65C_uc002xvn.1_Splice_Site_p.D189_splice	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	189										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCCACATGTCCTGCAAAGCC	0.642000														31			3		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11596589	11596589	+	Missense_Mutation	SNP	G	A	A	rs141052083		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:11596589G>A	uc001ash.4	+	20	4163	c.4025G>A	c.(4024-4026)gGc>gAc	p.G1342D		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	1342					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.G1559D(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)		GCCCTGCTGGGCATCATGGCG	0.642000														56			8		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76924904	76924904	+	Splice_Site	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:76924904G>A	uc001oyb.2	+	48	6711	c.6439_splice	c.e48-1	p.D2147_splice	MYO7A_uc001oyc.2_Splice_Site_p.D2107_splice|MYO7A_uc001oye.2_Splice_Site	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	2147	FERM 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGCTCCCCCAGGATATCCTCA	0.602000														96			12		0	0	1	0	0
OR13H1	347468	broad.mit.edu	37	X	130678233	130678233	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:130678233C>T	uc011muw.2	+	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F	IGSF1_uc004ewf.2_Intron	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TCTACTTCTTCCTTAGTAACC	0.433000														84			15		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52548788	52548788	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:52548788G>A	uc003dej.3	+	34	3824	c.3750G>A	c.(3748-3750)tcG>tcA	p.S1250S		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1250	FAS1 4.				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)		TTGGTCTGTCGGGGGTCCTGA	0.667000														86			12		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881311	228881311	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:228881311G>A	uc002vpq.2	-	6	4306	c.4259C>T	c.(4258-4260)tCa>tTa	p.S1420L	SPHKAP_uc002vpp.2_Missense_Mutation_p.S1420L|SPHKAP_uc010zlx.1_Missense_Mutation_p.S1420L	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1420						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CGAGCAAAGTGATCGCCTTTT	0.458000														150			17		0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22301235	22301235	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:22301235G>A	uc001mqi.2	+	21	2983	c.2666G>A	c.(2665-2667)gGa>gAa	p.G889E	ANO5_uc001mqj.2_Missense_Mutation_p.G888E	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	889						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGAACTTGGGAATTAATTCT	0.363000														47			4		0	0	1	0	0
C16orf54	283897	broad.mit.edu	37	16	29755617	29755617	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:29755617C>T	uc002dtp.2	-	1	765	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	BOLA2_uc010bzb.1_Intron|BC041466_uc002dtq.1_5'Flank	NM_175900	NP_787096	Q6UWD8	CP054_HUMAN	Homo sapiens chromosome 16 open reading frame 54 (C16orf54), mRNA.	219						integral to membrane				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						CACACTGGTCCGGCCTTCACG	0.652000														24			4		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559022	129559022	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:129559022C>T	uc009zyl.1	-	8	3026	c.2698G>A	c.(2698-2700)Gaa>Aaa	p.E900K	TMEM132D_uc001uia.2_Missense_Mutation_p.E438K	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	900						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCATCCATTTCCCCATTGCTT	0.522000														127			11		0	0	1	0	0
CBX2	84733	broad.mit.edu	37	17	77757718	77757718	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:77757718C>T	uc002jxc.3	+	4	534	c.476C>T	c.(475-477)cCc>cTc	p.P159L		NM_005189	NP_005180	Q14781	CBX2_HUMAN	Homo sapiens chromobox homolog 2 (CBX2), transcript variant 1, mRNA.	159					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTGAAGGATCCCATCCGGAAG	0.637000														49			4		0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74467596	74467596	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:74467596G>A	uc002axg.1	+	1	679	c.397G>A	c.(397-399)Gag>Aag	p.E133K	ISLR_uc002axh.1_Missense_Mutation_p.E133K|ISLR_uc021sqf.1_Missense_Mutation_p.E133K	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	133					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GGACAGCAACGAGCTGACCTT	0.592000														88			7		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739356	38739356	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:38739356C>T	uc003ciq.3	-	26	5355	c.5355G>A	c.(5353-5355)ctG>ctA	p.L1785L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1785					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCATCTGGATCAGTATATTTC	0.488000														112			5		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56220293	56220293	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:56220293C>T	uc002qly.3	-	8	2989	c.2961G>A	c.(2959-2961)agG>agA	p.R987R		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	987						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GGAGCACACCCCTGATCTTGT	0.478000														96			8		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152466568	152466568	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:152466568C>T	uc021vrb.1	-	75	11385	c.11356G>A	c.(11356-11358)Gat>Aat	p.D3786N	NEB_uc002txu.3_Missense_Mutation_p.D4029N|NEB_uc021vrc.1_Missense_Mutation_p.D4029N|NEB_uc010fnx.3_Missense_Mutation_p.D3774N|NEB_uc021vrd.1_Missense_Mutation_p.D3786N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3786					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATCTTGGGATCATCTTCAATG	0.423000														58			13		0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116331079	116331079	+	Missense_Mutation	SNP	G	A	A	rs142175534	byFrequency	TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:116331079G>A	uc021pyx.1	-	3	749	c.650C>T	c.(649-651)cCg>cTg	p.P217L	ABLIM1_uc021pyw.1_Missense_Mutation_p.P217L|ABLIM1_uc021pyy.1_Missense_Mutation_p.P157L|ABLIM1_uc021pyz.1_Missense_Mutation_p.P151L|ABLIM1_uc021pza.1_Missense_Mutation_p.P157L|ABLIM1_uc021pze.1_Missense_Mutation_p.P141L|ABLIM1_uc021pzf.1_Missense_Mutation_p.P151L|ABLIM1_uc021pzd.1_Missense_Mutation_p.P65L	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	217					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GGTTTCTTTCGGACTGGACGA	0.552000														57			4		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101480466	101480466	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:101480466G>A	uc010svm.1	+	16	2137	c.1565G>A	c.(1564-1566)gGg>gAg	p.G522E	ANO4_uc001thw.2_Missense_Mutation_p.G487E|ANO4_uc001thx.2_Missense_Mutation_p.G522E|ANO4_uc001thy.2_Missense_Mutation_p.G42E	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	522						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GCCGTGTTCGGGATCGTCATT	0.517000										HNSCC(74;0.22)				265			25		0	0	1	0	0
FAM190B	54462	broad.mit.edu	37	10	86131489	86131489	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:86131489C>T	uc010qmd.1	+	1	875	c.681C>T	c.(679-681)tcC>tcT	p.S227S	FAM190B_uc001kdg.1_Silent_p.S227S|FAM190B_uc001kdh.1_Silent_p.S227S			Q9H7U1	F190B_HUMAN	Homo sapiens family with sequence similarity 190, member B (FAM190B), mRNA.	227										NS(2)|endometrium(2)|kidney(4)|large_intestine(11)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						TTTCACATTCCATTCAGAATT	0.383000														104			6		0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	56000028	56000028	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:56000028C>T	uc010rjc.2	-	0	634	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CGCCTAATTTCATTGGCTCCA	0.418000														240			11		0	0	1	0	0
PRPF3	9129	broad.mit.edu	37	1	150325390	150325390	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:150325390A>G	uc001eum.4	+	15	2149	c.1987A>G	c.(1987-1989)Aag>Gag	p.K663E	PRPF3_uc010pca.2_Missense_Mutation_p.K622E|PRPF3_uc010pcb.2_Missense_Mutation_p.K614E	NM_004698	NP_004689	O43395	PRPF3_HUMAN	Homo sapiens PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) (PRPF3), mRNA.	663					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GCATTTCAAAAAGCATGGGGC	0.473000														138			31		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28968349	28968349	+	Missense_Mutation	SNP	C	T	T	rs36040686	byFrequency	TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr18:28968349C>T	uc002kwr.2	+	3	371	c.236C>T	c.(235-237)tCg>tTg	p.S79L	DSG4_uc002kwq.2_Missense_Mutation_p.S79L	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	79	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GACTGCGAATCGAACCAGAAG	0.418000														40			6		0	0	1	0	0
TUBB3	10381	broad.mit.edu	37	16	90002149	90002149	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:90002149C>T	uc002fpf.2	+	4	2739	c.2331C>T	c.(2329-2331)gcC>gcT	p.A777A	TUBB3_uc010ciz.1_Silent_p.A358A|TUBB3_uc002fph.2_Silent_p.A430A|TUBB3_uc002fpj.1_Silent_p.A358A|TUBB3_uc002fpk.1_Silent_p.A284A	NM_006086	NP_006077	Q13509	TBB3_HUMAN	Homo sapiens tubulin, beta 3 class III (TUBB3), transcript variant 1, mRNA.	430					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		ACGCCACGGCCGAGGAAGAGG	0.647000														86			28		0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33768054	33768054	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:33768054G>A	uc002hjk.1	-	3	2584	c.2254C>T	c.(2254-2256)Cct>Tct	p.P752S	SLFN13_uc010wch.1_Missense_Mutation_p.P752S|SLFN13_uc002hjl.2_Missense_Mutation_p.P752S|SLFN13_uc002hjm.2_Missense_Mutation_p.P421S|SLFN13_uc010ctt.2_Missense_Mutation_p.P434S	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	752						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TTAATTGGAGGATTTTCTATA	0.393000														144			12		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457719	110457719	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:110457719C>T	uc003yne.3	+	37	5725	c.5621C>T	c.(5620-5622)tCc>tTc	p.S1874F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1874	IPT/TIG 11.				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)			CAAATTATTTCCATCAACCCC	0.448000										HNSCC(38;0.096)				50			17		0	0	1	0	0
ANKIB1	54467	broad.mit.edu	37	7	92025742	92025742	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:92025742C>T	uc003ulw.2	+	17	2723	c.2347C>T	c.(2347-2349)Cta>Tta	p.L783L	ANKIB1_uc010lew.1_Silent_p.L52L	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	Homo sapiens ankyrin repeat and IBR domain containing 1 (ANKIB1), mRNA.	783							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGTTCACAGTCTACTCAGTAA	0.423000														9			4		0	0	1	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142162019	142162019	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:142162019A>G	uc011krx.2	-	1	271	c.256T>C	c.(256-258)Tcc>Ccc	p.S86P	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc022ani.1_Non-coding_Transcript|BV13S6J2.1_uc011krw.2_Missense_Mutation_p.S86P					SubName: Full=BV13S6J2.1 protein; Flags: Fragment;																		GTTGATCTGGAGACGTTGTAG	0.512000														279			46		0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116593799	116593799	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:116593799G>A	uc002tle.3	+	21	2050	c.2029G>A	c.(2029-2031)Gtg>Atg	p.V677M	DPP10_uc002tla.2_Missense_Mutation_p.V673M|DPP10_uc002tlb.2_Missense_Mutation_p.V623M|DPP10_uc002tlc.2_Missense_Mutation_p.V669M|DPP10_uc002tlf.2_Missense_Mutation_p.V666M	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	673					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATGTGGATCCGTGGTTGCACC	0.333000														35			8		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40790000	40790000	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:40790000C>T	uc002xkg.3	-	16	2858	c.2674G>A	c.(2674-2676)Gaa>Aaa	p.E892K	PTPRT_uc010ggj.3_Missense_Mutation_p.E911K|PTPRT_uc010ggi.3_Missense_Mutation_p.E95K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	892	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.E914K(2)|p.R892W(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACCTCGTATTCCTCCTTGAAC	0.557000														65			5		0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83014671	83014671	+	Missense_Mutation	SNP	C	T	T	rs145707650		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:83014671C>T	uc003uhy.2	-	15	2435	c.1814G>A	c.(1813-1815)cGa>cAa	p.R605Q	SEMA3E_uc022agy.1_Missense_Mutation_p.R545Q	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	605	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTGTAAAGATCGTGGGGTACA	0.398000														171			7		0	0	1	0	0
SATL1	340562	broad.mit.edu	37	X	84362877	84362877	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:84362877C>T	uc004een.3	-	0	1098	c.1098G>A	c.(1096-1098)acG>acA	p.T366T		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	179	N-acetyltransferase.|Substrate binding (By similarity).						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTGCTTGGCTCGTGCTTGATT	0.532000														46			7		0	0	1	0	0
COQ7	10229	broad.mit.edu	37	16	19078994	19078994	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:19078994G>A	uc002dfr.3	+	0	78	c.8G>A	c.(7-9)tGc>tAc	p.C3Y	COQ7_uc021tee.1_5'Flank|COQ7_uc002dfs.3_5'Flank	NM_016138	NP_001177912	Q99807	COQ7_HUMAN	Homo sapiens coenzyme Q7 homolog, ubiquinone (yeast) (COQ7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	3					ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding	p.S2N(1)		breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						GCAATGAGTTgcgccggggcg	0.647000														38			6		0	0	1	0	0
CORO1A	11151	broad.mit.edu	37	16	30199816	30199816	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:30199816G>A	uc010bzq.3	+	10	1635	c.1200G>A	c.(1198-1200)aaG>aaA	p.K400K	BOLA2_uc010bzb.1_Intron|CORO1A_uc002dww.3_Silent_p.K400K|CORO1A_uc002dwx.3_Silent_p.K294K|CORO1A_uc002dwy.1_3'UTR|CORO1A_uc002dwz.1_5'Flank	NM_001193333	NP_009005	P31146	COR1A_HUMAN	Homo sapiens coronin, actin binding protein, 1A (CORO1A), transcript variant 1, mRNA.	400					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						TACCCCCAAAGAGCCGGGAGC	0.706000														51			14		0	0	1	0	0
HEXA	3073	broad.mit.edu	37	15	72645486	72645486	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:72645486G>A	uc002aun.4	-	4	700	c.493C>T	c.(493-495)Ccc>Tcc	p.P165S	CELF6_uc002auk.3_Intron|HEXA_uc010ukn.2_Missense_Mutation_p.P176S|HEXA_uc010bix.3_Missense_Mutation_p.P165S|HEXA_uc010biy.2_Missense_Mutation_p.P28S|HEXA_uc010uko.1_Intron	NM_000520	NP_000511	P06865	HEXA_HUMAN	Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA.	165					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						GGAAAGCGGGGAAAGTCCTCA	0.488000														34			3		0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12541954	12541954	+	Silent	SNP	T	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:12541954T>C	uc002mtu.3	-	3	1230	c.1032A>G	c.(1030-1032)aaA>aaG	p.K344K		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	Homo sapiens zinc finger protein 443 (ZNF443), mRNA.	344					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G343W(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						GATGAAACGCTTTCCCACATT	0.433000														278			55		0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38281585	38281585	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:38281585C>T	uc001wuj.3	+	7	928	c.826C>T	c.(826-828)Ctt>Ttt	p.L276F	TTC6_uc001wug.3_Intron|TTC6_uc001wuh.3_Missense_Mutation_p.L179F|TTC6_uc001wui.3_Non-coding_Transcript					SubName: Full=TTC6 protein;											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		AAATACCTTCCTTAATCGTGG	0.373000														86			7		0	0	1	0	0
LRPAP1	4043	broad.mit.edu	37	4	3519914	3519914	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:3519914G>A	uc003ghh.4	-	4	683	c.598C>T	c.(598-600)Cac>Tac	p.H200Y		NM_002337	NP_002328	P30533	AMRP_HUMAN	Homo sapiens low density lipoprotein receptor-related protein associated protein 1 (LRPAP1), mRNA.	200					negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		ACGTTCTCGTGGATTTCTGTA	0.597000														41			4		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66915564	66915564	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:66915564G>A	uc002jhq.3	-	13	2006	c.1666C>T	c.(1666-1668)Ctc>Ttc	p.L556F	ABCA8_uc002jhp.3_Missense_Mutation_p.L556F|ABCA8_uc010wqq.2_Missense_Mutation_p.L556F|ABCA8_uc010wqr.2_Missense_Mutation_p.L495F|ABCA8_uc002jhr.3_Missense_Mutation_p.L556F	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	556	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGCTTGCTGAGATTTTCTAGG	0.368000														69			14		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107924162	107924162	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:107924162G>A	uc022ccg.1	+	45	4265	c.4063G>A	c.(4063-4065)Gaa>Aaa	p.E1355K	COL4A5_uc004enz.1_Missense_Mutation_p.E1349K	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1349	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						CCCTGAGGGGGAACCGGGACT	0.438000									Alport syndrome with Diffuse Leiomyomatosis					48			11		0	0	1	0	0
MANBA	4126	broad.mit.edu	37	4	103571759	103571759	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:103571759G>A	uc003hwg.3	-	12	1904	c.1804C>T	c.(1804-1806)Cat>Tat	p.H602Y	MANBA_uc011ces.2_Missense_Mutation_p.H545Y	NM_005908	NP_005899	O00462	MANBA_HUMAN	Homo sapiens mannosidase, beta A, lysosomal (MANBA), mRNA.	602					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		AGTTTGAAATGAAGTCCAGCC	0.408000														146			17		0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371344	55371344	+	Missense_Mutation	SNP	G	A	A	rs148062468	byFrequency	TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:55371344G>A	uc010rii.2	-	0	531	c.506C>T	c.(505-507)cCc>cTc	p.P169L		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						AATCAAATAGGGTCCACAGAA	0.448000														108			6		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55085366	55085366	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:55085366C>T	uc010ern.3	+	1	490	c.21C>T	c.(19-21)gtC>gtT	p.V7V	LILRA1_uc002qgg.4_Silent_p.V7V|LILRA1_uc002qgf.3_Silent_p.V7V|LILRA1_uc010yfe.1_Silent_p.V7V|LILRA1_uc010yff.1_Silent_p.V7V|LILRA1_uc010ero.3_Silent_p.V7V|LILRA1_uc010yfg.1_Silent_p.V7V			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	7					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)		TCCTCACGGTCCTGATCTGTC	0.612000														141			13		0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17544345	17544345	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:17544345C>T	uc001mnf.3	-	11	1114	c.1005G>A	c.(1003-1005)caG>caA	p.Q335Q	USH1C_uc001mne.3_Silent_p.Q335Q|USH1C_uc009yhb.3_Silent_p.Q316Q|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Silent_p.Q299Q	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	335					G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GCTCCATCTCCTGCTGCTCCT	0.667000														54			5		0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42796863	42796863	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:42796863C>T	uc002otf.1	+	13	3361	c.3321C>T	c.(3319-3321)ccC>ccT	p.P1107P		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1107	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCTCAGCACCCCTGGCCCAGC	0.677000			"""Mis, F, S"""		oligodendroglioma									87			6		0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461597	11461597	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:11461597C>T	uc001qzf.1	-	2	354	c.320G>A	c.(319-321)gGa>gAa	p.G107E	PRB4_uc001qzt.3_Missense_Mutation_p.G107E	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	149	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region		p.G106R(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGACTGGTTTCCTCCTTGTGG	0.612000										HNSCC(22;0.051)				477			29		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56499274	56499274	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:56499274C>T	uc002qmh.3	+	9	3213	c.3142C>T	c.(3142-3144)Cct>Tct	p.P1048S	NLRP8_uc010etg.3_Missense_Mutation_p.P1029S	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	1048						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CCAGATTAATCCTTAGGCCGT	0.493000														50			7		0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16746976	16746976	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:16746976C>T	uc010exm.2	-	2	278	c.130G>A	c.(130-132)Gat>Aat	p.D44N	FAM49A_uc002rck.2_Missense_Mutation_p.D44N	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	44						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			CTCTCAGAATCCTGAAGGACG	0.517000														92			23		0	0	1	0	0
RIT2	6014	broad.mit.edu	37	18	40503608	40503608	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr18:40503608G>A	uc002lav.3	-	3	528	c.355C>T	c.(355-357)Cag>Tag	p.Q119*	RIT2_uc010dnf.3_Nonsense_Mutation_p.Q119*	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.	119					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGCGGACCTGAAAAATGAGC	0.498000														295			21		0	0	1	0	0
MBOAT1	154141	broad.mit.edu	37	6	20109975	20109975	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:20109975C>T	uc003ncx.1	-	11	1420	c.1215G>A	c.(1213-1215)agG>agA	p.R405R	MBOAT1_uc011dji.1_Silent_p.R256R	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 1 (MBOAT1), mRNA.	405					phospholipid biosynthetic process	integral to membrane	acyltransferase activity	p.V404I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TGTAGTTGTTCCTGACCTGCA	0.488000														68			4		0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712152	121712152	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:121712152C>T	uc003ees.3	-	6	1647	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K	ILDR1_uc003eeq.3_Missense_Mutation_p.E450K|ILDR1_uc003eer.3_Missense_Mutation_p.E438K|ILDR1_uc010hrg.3_Missense_Mutation_p.E393K	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	482						cytosol|integral to membrane|plasma membrane	receptor activity	p.K481E(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TTGTCCTCTTCAGAGCTCCAG	0.697000														24			6		0	0	1	0	0
RPL23P8	222901	broad.mit.edu	37	7	20866983	20866983	+	RNA	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:20866983C>T	uc011jyj.1	+	0		c.67C>T								Homo sapiens ribosomal protein L23 pseudogene 8 (RPL23P8), non-coding RNA.																		CTGGTGTGAACTTCCGGATTT	0.458000														29			5		0	0	1	0	0
ZNF557	79230	broad.mit.edu	37	19	7083327	7083327	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:7083327G>A	uc002mga.3	+	7	1350	c.865G>A	c.(865-867)Gag>Aag	p.E289K	ZNF557_uc002mgb.3_Missense_Mutation_p.E282K|ZNF557_uc002mgc.3_Missense_Mutation_p.E289K	NM_024341	NP_077317	Q8N988	ZN557_HUMAN	Homo sapiens zinc finger protein 557 (ZNF557), transcript variant 1, mRNA.	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		TCATACGGGGGAGGGTCATTA	0.453000														145			9		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157512805	157512805	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:157512805G>A	uc009wsm.3	-	5	1125	c.967C>T	c.(967-969)Cat>Tat	p.H323Y	FCRL5_uc001fqu.3_Missense_Mutation_p.H323Y|FCRL5_uc010phv.1_Missense_Mutation_p.H323Y|FCRL5_uc010phw.1_Missense_Mutation_p.H238Y|FCRL5_uc001fqv.1_Missense_Mutation_p.H323Y|FCRL5_uc010phx.2_Missense_Mutation_p.H74Y	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	323	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACACCCTCATGATAAAACCTG	0.498000														88			5		0	0	1	0	0
CYP46A1	10858	broad.mit.edu	37	14	100184455	100184455	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:100184455C>T	uc001ygo.3	+	9	972	c.972C>T	c.(970-972)atC>atT	p.I324I	CYP46A1_uc001ygp.3_Silent_p.I171I	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.	324					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				AGCCAGAGATCGTGGCAAGGT	0.607000														60			6		0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22749236	22749236	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:22749236G>A	uc003gqp.4	+	2	695	c.604G>A	c.(604-606)Gcc>Acc	p.A202T	GBA3_uc010iep.3_Intron|GBA3_uc011bxo.2_Missense_Mutation_p.A203T	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	202					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TAAGGCTCATGCCAGATCCTG	0.443000														146			22		0	0	1	0	0
FOXJ1	2302	broad.mit.edu	37	17	74134115	74134115	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:74134115C>T	uc002jqx.3	-	2	940	c.585G>A	c.(583-585)tgG>tgA	p.W195*	LOC100507218_uc002jqy.2_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	Homo sapiens forkhead box J1 (FOXJ1), mRNA.	195					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			GGTCAATGCGCCAGAAGCCCC	0.622000														29			4		0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53056747	53056747	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:53056747C>T	uc010epq.1	+	4	755	c.578C>T	c.(577-579)tCc>tTc	p.S193F	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GTTTCAACATCCCAAAGAATT	0.378000														237			17		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233314884	233314884	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:233314884G>A	uc001hvl.2	-	15	3339	c.3104C>T	c.(3103-3105)tCg>tTg	p.S1035L	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1035						integral to membrane		p.S1035L(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACAGAAGGCCGAAAACAGTGC	0.512000														86			5		0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53013965	53013965	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:53013965C>T	uc002pzp.4	+	5	575	c.331C>T	c.(331-333)Cat>Tat	p.H111Y		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AAAAGATATTCATGACTTTGA	0.398000														186			12		0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45204437	45204437	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:45204437C>T	uc001myo.3	+	4	600	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	Homo sapiens PR domain containing 11 (PRDM11), mRNA.	117										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGGAGTACTTCGTGGATGAAT	0.627000														98			5		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579922	140579922	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:140579922C>T	uc003liy.3	+	0	575	c.575C>T	c.(574-576)cCc>cTc	p.P192L		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	192	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAAATACCCCGAGTTAGTT	0.458000														132			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179425664	179425664	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179425664C>T	uc021vsy.1	-	274	77716	c.77491G>A	c.(77491-77493)Gaa>Aaa	p.E25831K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E19526K|TTN_uc021vta.1_Missense_Mutation_p.E19459K|TTN_uc021vtb.1_Missense_Mutation_p.E19334K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26758	Fibronectin type-III 88.						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)			GCTCTTTCTTCAATTTCTATA	0.403000														109			8		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102069104	102069104	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:102069104G>A	uc001tii.3	+	24	2963	c.2823G>A	c.(2821-2823)gaG>gaA	p.E941E	MYBPC1_uc001tig.3_Silent_p.E948E|MYBPC1_uc010svr.2_Silent_p.E923E|MYBPC1_uc010svs.2_Silent_p.E941E|MYBPC1_uc001tij.3_Silent_p.E923E|MYBPC1_uc010svt.2_Silent_p.E911E|MYBPC1_uc010svu.2_Silent_p.E904E|MYBPC1_uc001tik.3_Silent_p.E897E|MYBPC1_uc001tih.3_Silent_p.E948E|MYBPC1_uc010svq.2_Silent_p.E910E|MYBPC1_uc001til.3_5'UTR	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	941	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TGAAGATTGAGGATGTCTGGG	0.458000														41			7		0	0	1	0	0
NAA11	84779	broad.mit.edu	37	4	80246768	80246768	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:80246768C>T	uc003hlt.4	-	0	404	c.264G>A	c.(262-264)caG>caA	p.Q88Q	NAA11_uc021xpl.1_Silent_p.Q88Q	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	Homo sapiens N(alpha)-acetyltransferase 11, NatA catalytic subunit (NAA11), mRNA.	88	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	p.A87A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						CCATCAGCTTCTGGGCCAGGC	0.567000														93			7		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234545587	234545587	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:234545587G>A	uc002vur.3	+	0	465	c.419G>A	c.(418-420)aGt>aAt	p.S140N	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Missense_Mutation_p.S140N	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	143					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TTAAAGGAGAGTTCTTTTGAT	0.368000														219			8		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23825160	23825160	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:23825160G>A	uc003sws.4	+	17	2279	c.2212G>A	c.(2212-2214)Gaa>Aaa	p.E738K	STK31_uc003swt.4_Missense_Mutation_p.E715K|STK31_uc011jze.2_Missense_Mutation_p.E738K|STK31_uc010kuq.3_Missense_Mutation_p.E715K|STK31_uc003swv.1_5'Flank	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	738	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCCCATGAAGGAACTTAGCAG	0.418000														156			13		0	0	1	0	0
CAMKV	79012	broad.mit.edu	37	3	49896968	49896968	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:49896968G>A	uc003cxt.1	-	10	1482	c.1289C>T	c.(1288-1290)aCt>aTt	p.T430I	TRAIP_uc003cxs.1_5'Flank|TRAIP_uc010hla.1_5'Flank|TRAIP_uc011bcx.2_5'Flank|CAMKV_uc011bcy.1_Missense_Mutation_p.T355I|CAMKV_uc003cxv.1_Missense_Mutation_p.T402I|CAMKV_uc003cxw.1_Missense_Mutation_p.T262I|CAMKV_uc003cxx.1_Missense_Mutation_p.T262I|CAMKV_uc003cxu.2_Missense_Mutation_p.T399I|CAMKV_uc011bcz.1_Missense_Mutation_p.T362I|CAMKV_uc011bda.1_Missense_Mutation_p.T356I	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	430	Ala-rich.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCTCCCATCAGTGGCTGGAGT	0.632000														196			22		0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20443780	20443780	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:20443780G>A	uc010tkx.2	+	0	103	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCGGGTGACAGAATTTGTGTT	0.398000														182			16		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152331258	152331258	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:152331258C>T	uc001ezw.4	-	1	176	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	35	EF-hand 1.|S-100-like (By similarity).						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAGAAGTTCCTTTAGTTCA	0.483000														200			10		0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75596749	75596749	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:75596749C>T	uc003kei.1	+	10	1966	c.1832C>T	c.(1831-1833)aCa>aTa	p.T611I		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	611					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)		GGGCGCTTAACAATGCTAGGT	0.463000														116			8		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144999675	144999675	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:144999675C>T	uc003zaf.1	-	30	5003	c.4833G>A	c.(4831-4833)gaG>gaA	p.E1611E	PLEC_uc003zab.1_Silent_p.E1474E|PLEC_uc003zac.1_Silent_p.E1478E|PLEC_uc003zad.2_Silent_p.E1474E|PLEC_uc003zae.1_Silent_p.E1442E|PLEC_uc003zag.1_Silent_p.E1452E|PLEC_uc003zah.2_Silent_p.E1460E|PLEC_uc003zaj.2_Silent_p.E1501E	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	1611	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTGCCTGCAGCTCCCCCTCAG	0.721000														15			3		0	0	1	0	0
LYSMD3	116068	broad.mit.edu	37	5	89815239	89815239	+	Silent	SNP	A	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:89815239A>T	uc003kjr.3	-	2	466	c.318T>A	c.(316-318)tcT>tcA	p.S106S	LYSMD3_uc010jaz.2_Intron|LYSMD3_uc003kjs.1_Missense_Mutation_p.Y87N	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	Homo sapiens LysM, putative peptidoglycan-binding, domain containing 3 (LYSMD3), mRNA.	106					cell wall macromolecule catabolic process	integral to membrane				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		GAATTTTGATAGACCTAAGGG	0.393000														68			6		0	0	1	0	0
RPL3L	6123	broad.mit.edu	37	16	1997298	1997298	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:1997298G>A	uc002cnh.3	-	4	632	c.585C>T	c.(583-585)gcC>gcT	p.A195A	TCRBV20S1_uc021tak.1_Intron	NM_005061	NP_005052	Q92901	RL3L_HUMAN	Homo sapiens ribosomal protein L3-like (RPL3L), mRNA.	195					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CCTGGGCCCAGGCCACCTTCT	0.622000														71			5		0	0	1	0	0
TMEM225	338661	broad.mit.edu	37	11	123753855	123753855	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:123753855C>T	uc001pzi.3	-	3	876	c.668G>A	c.(667-669)tGg>tAg	p.W223*		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	Homo sapiens transmembrane protein 225 (TMEM225), mRNA.	223						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TCACAGAGCCCAGGTTACGTG	0.423000														100			7		0	0	1	0	0
NCLN	56926	broad.mit.edu	37	19	3205976	3205976	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:3205976G>A	uc002lxi.3	+	9	1402	c.1248G>A	c.(1246-1248)agG>agA	p.R416R	NCLN_uc002lxh.1_Non-coding_Transcript|NCLN_uc002lxj.1_Non-coding_Transcript|NCLN_uc002lxk.3_Silent_p.R61R	NM_020170	NP_064555	Q969V3	NCLN_HUMAN	Homo sapiens nicalin (NCLN), mRNA.	416					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		GTAACACGAGGATCATTGCAG	0.562000														147			8		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9520177	9520177	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:9520177G>A	uc002wnl.2	-	10	2637	c.2092C>T	c.(2092-2094)Cca>Tca	p.P698S	PAK7_uc002wnk.2_Missense_Mutation_p.P698S|PAK7_uc002wnj.2_Missense_Mutation_p.P698S|PAK7_uc010gby.1_Missense_Mutation_p.P611S	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	698	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TTTAAGAATGGATGTCCGAGG	0.512000														211			29		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42041223	42041223	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:42041223G>A	uc001cgz.4	-	4	6412	c.5199C>T	c.(5197-5199)ttC>ttT	p.F1733F	HIVEP3_uc001cha.4_Silent_p.F1733F|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1733					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.F1733F(2)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				ACCCTCCTTCGAAGATTTTGA	0.552000														279			30		0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36461540	36461540	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:36461540T>G	uc003tff.3	+	12	2442	c.2238T>G	c.(2236-2238)gaT>gaG	p.D746E	ANLN_uc011kaz.2_Missense_Mutation_p.D658E|ANLN_uc003tfg.3_Missense_Mutation_p.D709E|ANLN_uc010kxe.3_Missense_Mutation_p.D708E	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	746	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GCTGTGTTGATGAAGAACATG	0.393000														71			26		0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223567855	223567855	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:223567855G>A	uc001hoa.2	+	0	1141	c.1038G>A	c.(1036-1038)tgG>tgA	p.W346*		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	346										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AAAGCCGGTGGAAGGAGCAAC	0.697000														10			4		0	0	1	0	0
ASB16	92591	broad.mit.edu	37	17	42254167	42254167	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:42254167G>A	uc002ifl.1	+	2	715	c.631G>A	c.(631-633)Gag>Aag	p.E211K	ASB16_uc002ifm.1_Non-coding_Transcript|C17orf65_uc002ifn.3_Missense_Mutation_p.P152S|C17orf65_uc021tyb.1_Missense_Mutation_p.P152S	NM_080863	NP_543139	Q96NS5	ASB16_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 16 (ASB16), mRNA.	211					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CGAGAGCCAGGAGACGCCCCT	0.667000														80			5		0	0	1	0	0
SLC25A18	83733	broad.mit.edu	37	22	18064150	18064150	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:18064150G>A	uc002zmp.1	+	4	664	c.170G>A	c.(169-171)cGg>cAg	p.R57Q	SLC25A18_uc010gqx.3_Missense_Mutation_p.R57Q|SLC25A18_uc002zmq.1_Missense_Mutation_p.R57Q	NM_031481	NP_113669	Q9H1K4	GHC2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier), member 18 (SLC25A18), nuclear gene encoding mitochondrial protein, mRNA.	57						integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	AAGACGGCTCGGGCGGAGGGC	0.652000														123			8		0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40568855	40568855	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr21:40568855G>A	uc002yxk.2	-	40	6435	c.6140C>T	c.(6139-6141)tCc>tTc	p.S2047F	BRWD1_uc010goc.1_Missense_Mutation_p.S690F|BRWD1_uc021wjf.1_Missense_Mutation_p.S2047F	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	2047					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TGTAACAGAGGAACTTTTTCT	0.378000														182			22		0	0	1	0	0
ACTBL2	345651	broad.mit.edu	37	5	56777623	56777623	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:56777623G>A	uc003jrm.3	-	0	1014	c.912C>T	c.(910-912)agC>agT	p.S304S		NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN	Homo sapiens actin, beta-like 2 (ACTBL2), mRNA.	304						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GGTACATGGTGCTCCCTCCAG	0.493000														97			9		0	0	1	0	0
CCNL1	57018	broad.mit.edu	37	3	156867344	156867344	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:156867344A>C	uc003fbf.3	-	8	1662	c.1063T>G	c.(1063-1065)Tcc>Gcc	p.S355A	CCNL1_uc003fbd.1_Missense_Mutation_p.S355A|CCNL1_uc003fbe.3_Missense_Mutation_p.S149A|CCNL1_uc003fbg.3_Non-coding_Transcript|CCNL1_uc011bor.2_Non-coding_Transcript|CCNL1_uc003fbi.1_Missense_Mutation_p.S200A	NM_020307	NP_064703	Q9UK58	CCNL1_HUMAN	Homo sapiens cyclin L1 (CCNL1), mRNA.	355					RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			ACATTAATGGAGATTGGTGAT	0.378000														92			12		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72975146	72975146	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:72975146C>T	uc003pga.3	+	20	3325	c.3248C>T	c.(3247-3249)tCc>tTc	p.S1083F	RIMS1_uc011dyb.2_Intron|RIMS1_uc003pgc.3_Intron|RIMS1_uc010kaq.3_Intron|RIMS1_uc011dyc.2_Intron|RIMS1_uc010kar.3_Intron|RIMS1_uc011dyd.2_Intron|RIMS1_uc003pge.3_Intron|RIMS1_uc003pgf.3_Intron|RIMS1_uc003pgi.3_Intron|RIMS1_uc003pgg.3_Intron|RIMS1_uc003pgh.3_Intron|RIMS1_uc003pgd.3_Intron|RIMS1_uc011dye.2_Intron|RIMS1_uc011dyf.2_Intron|RIMS1_uc010kas.1_Intron	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1083					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAGGACATTTCCCTTCATCAT	0.318000														31			4		0	0	1	0	0
PUS7	54517	broad.mit.edu	37	7	105148645	105148645	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:105148645C>T	uc010lji.3	-	0	323	c.315G>A	c.(313-315)atG>atA	p.M105I	PUS7_uc003vcx.3_Missense_Mutation_p.M105I|PUS7_uc003vcy.3_Missense_Mutation_p.M105I|PUS7_uc003vcz.1_Missense_Mutation_p.M105I	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae) (PUS7), mRNA.	105					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity	p.M104T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						GTCCATGCTTCATCATGTCTG	0.448000														144			16		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120876375	120876375	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:120876375C>T	uc003eec.4	+	8	918	c.778C>T	c.(778-780)Cat>Tat	p.H260Y	STXBP5L_uc011bji.2_Missense_Mutation_p.H260Y	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	260					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.H260N(2)		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)		TGATTGGCATCATGAGGGCAA	0.373000														69			7		0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57379246	57379246	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:57379246C>T	uc001nkp.1	+	6	1277	c.1086C>T	c.(1084-1086)aaC>aaT	p.N362N	SERPING1_uc010rju.1_Silent_p.N310N|SERPING1_uc010rjv.1_Silent_p.N367N|SERPING1_uc001nkr.1_Silent_p.N362N|SERPING1_uc001nks.1_Silent_p.N53N	NM_000062	NP_001027466	P05155	IC1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA.	362					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						TACCCCAGAACCTGAAACATC	0.498000														160			9		0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55357630	55357630	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:55357630C>T	uc010spd.1	-	7	684	c.551G>A	c.(550-552)cGa>cAa	p.R184Q	TESPA1_uc001sgl.3_Missense_Mutation_p.R46Q|TESPA1_uc001sgm.3_5'UTR|TESPA1_uc010spb.1_5'UTR|TESPA1_uc010spc.1_Missense_Mutation_p.R46Q|TESPA1_uc001sgn.3_Missense_Mutation_p.R184Q	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN	Homo sapiens KIAA0748 (KIAA0748), mRNA.	184								p.R46Q(1)|p.R184Q(1)									GGTGAAAAATCGGGCGGGTAT	0.517000														94			7		0	0	1	0	0
ASPRV1	151516	broad.mit.edu	37	2	70187962	70187962	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:70187962C>T	uc002sfz.4	-	0	1436	c.859G>A	c.(859-861)Gat>Aat	p.D287N		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	Homo sapiens aspartic peptidase, retroviral-like 1 (ASPRV1), mRNA.	287	Peptidase A2.				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						TGGAGCACATCAGTGCCAATG	0.572000														176			17		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131859653	131859653	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:131859653G>A	uc003vra.4	-	20	4130	c.3901C>T	c.(3901-3903)Cat>Tat	p.H1301Y		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1301						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GTCAGCTCATGGATGTCCGTC	0.567000														107			22		0	0	1	0	0
RFPL3	10738	broad.mit.edu	37	22	32754281	32754281	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:32754281G>A	uc003amj.3	+	0	428	c.223G>A	c.(223-225)Gat>Aat	p.D75N	RFPL3_uc010gwn.3_Missense_Mutation_p.D46N	NM_001098535	NP_006595	O75679	RFPL3_HUMAN	Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA.	75							zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CCATGGGGAGGATCTGCTTTG	0.537000														133			16		0	0	1	0	0
ITM2A	9452	broad.mit.edu	37	X	78616621	78616621	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:78616621C>T	uc004edh.3	-	5	1094	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	ITM2A_uc011mqr.2_Missense_Mutation_p.E209K	NM_004867	NP_004858	O43736	ITM2A_HUMAN	Homo sapiens integral membrane protein 2A (ITM2A), transcript variant 1, mRNA.	253						integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						ACAATAAATTCGTTGGGGAAG	0.353000														24			7		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167097704	167097704	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:167097704T>A	uc001geb.1	+	4	3352	c.3336T>A	c.(3334-3336)ttT>ttA	p.F1112L		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	1112					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						AAGGGAGGTTTGCATCTGGAC	0.512000														60			12		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117914343	117914343	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:117914343G>A	uc001two.2	-	16	2476	c.2421C>T	c.(2419-2421)atC>atT	p.I807I		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	836	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.M806I(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTGGCGGATGATCTCTGGTG	0.587000														17			4		0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8738707	8738707	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:8738707G>A	uc002glq.1	-	7	768	c.528C>T	c.(526-528)atC>atT	p.I176I	PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA.	176					platelet activation	cytosol											GGGCCGCCTCGATCTCCAGTA	0.652000														24			4		0	0	1	0	0
ZNF250	58500	broad.mit.edu	37	8	146107151	146107151	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:146107151G>A	uc003zeq.4	-	5	1549	c.1432C>T	c.(1432-1434)Ccc>Tcc	p.P478S	COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.4_Missense_Mutation_p.P473S|ZNF250_uc010mgg.3_Missense_Mutation_p.P473S	NM_021061	NP_066405	P15622	ZN250_HUMAN	Homo sapiens zinc finger protein 250 (ZNF250), transcript variant 1, mRNA.	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		CACTGGAAGGGCTTTTCACCT	0.547000														59			11		0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886083	88886083	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:88886083G>A	uc003ydz.3	-	0	214	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	39								p.F39F(4)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AATAGTTGGCGAATCTGAGGA	0.522000														72			29		0	0	1	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806367	97806367	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:97806367G>A	uc011bgs.2	+	0	351	c.351G>A	c.(349-351)ctG>ctA	p.L117L		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L117P(1)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						GCTTCCTCCTGGTGATGATGG	0.428000														252			41		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31620595	31620595	+	Splice_Site	SNP	C	T	T	rs149508779		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:31620595C>T	uc002rnv.1	-	6	513	c.434_splice	c.e6-1	p.G145_splice		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	145					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.G145E(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GCACAGATTTCCTGTGGGCCA	0.542000														121			30		0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713553	70713553	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:70713553G>A	uc010ttg.2	-	0	966	c.315C>T	c.(313-315)atC>atT	p.I105I						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		AATCATTTAGGATCTGTTCTA	0.358000														107			6		0	0	1	0	0
IL1B	3553	broad.mit.edu	37	2	113587992	113587992	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:113587992C>T	uc002tii.1	-	6	843	c.756G>A	c.(754-756)ggG>ggA	p.G252G	IL1B_uc002tih.1_Silent_p.G221G	NM_000576	NP_000567	P01584	IL1B_HUMAN	Homo sapiens interleukin 1, beta (IL1B), mRNA.	252					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of MAP kinase activity|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell proliferation|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	CGCCTTTGGTCCCTCCCAGGA	0.483000														114			23		0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60923683	60923683	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:60923683G>A	uc001xez.4	-	14	1420	c.1310C>T	c.(1309-1311)cCt>cTt	p.P437L	C14orf39_uc010apo.3_Missense_Mutation_p.P148L	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	437										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		CAATGACTCAGGTGCTTTCAC	0.333000														165			29		0	0	1	0	0
MOXD1	26002	broad.mit.edu	37	6	132618414	132618414	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:132618414A>T	uc003qdf.3	-	11	1819	c.1720T>A	c.(1720-1722)Tat>Aat	p.Y574N	MOXD1_uc003qde.3_Missense_Mutation_p.Y506N	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	Homo sapiens monooxygenase, DBH-like 1 (MOXD1), transcript variant 2, mRNA.	574					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TCTGCTTTATAGGGTCTTTCT	0.438000														139			9		0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37302907	37302907	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:37302907G>A	uc003jku.1	-	28	3539	c.3421C>T	c.(3421-3423)Ctt>Ttt	p.L1141F	NUP155_uc003jkt.1_Missense_Mutation_p.L1082F|NUP155_uc010iuz.1_Missense_Mutation_p.L1077F	NM_153485	NP_004289	O75694	NU155_HUMAN	Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA.	1141					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATTCATGAAGAAATTCACCA	0.403000														139			24		0	0	1	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789484	6789484	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:6789484C>T	uc001meq.1	-	0	705	c.705G>A	c.(703-705)aaG>aaA	p.K235K		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 2 (OR2AG2), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAAGGGCTTTCTTCCTCCCCT	0.517000														64			5		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138163226	138163226	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:138163226G>A	uc002tva.1	+	11	2451	c.2451G>A	c.(2449-2451)atG>atA	p.M817I	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.M707I	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGAAATGATGGAATGCCTCA	0.448000														50			7		0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44713490	44713490	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:44713490C>T	uc003tln.3	+	5	897	c.738C>T	c.(736-738)ttC>ttT	p.F246F	OGDH_uc003tlm.3_Silent_p.F246F|OGDH_uc011kbx.2_Silent_p.F242F|OGDH_uc011kby.2_Intron|OGDH_uc003tlp.3_Silent_p.F257F|OGDH_uc011kbz.2_Intron|OGDH_uc003tlo.1_Silent_p.F79F	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	246					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TCATGCAGTTCACAAATGAGG	0.577000														125			7		0	0	1	0	0
C1orf64	149563	broad.mit.edu	37	1	16332590	16332590	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:16332590G>A	uc001axn.3	+	1	327	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K		NM_178840	NP_849162	Q8NEQ6	CA064_HUMAN	Homo sapiens chromosome 1 open reading frame 64 (C1orf64), mRNA.	87										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		GTTCTGTGGGGAAAACTGGCC	0.647000														134			17		0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130021677	130021677	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:130021677C>T	uc003vpx.3	+	2	426	c.354C>T	c.(352-354)aaC>aaT	p.N118N	CPA1_uc011kpf.1_Silent_p.N30N|CPA1_uc003vpw.2_Intron	NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	118					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					ACACTTTTAACTACGCCACCT	0.642000											OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		46			10		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100393	168100393	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:168100393G>A	uc002udx.3	+	8	2580	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E656K|XIRP2_uc010fpq.3_Missense_Mutation_p.E609K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	656					actin cytoskeleton organization	cell junction	actin binding	p.E831K(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						CATTGAAAAGGAAAAAATAAT	0.388000														116			18		0	0	1	0	0
GLDN	342035	broad.mit.edu	37	15	51689713	51689713	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:51689713C>T	uc002aba.3	+	5	904	c.735C>T	c.(733-735)ggC>ggT	p.G245G	GLDN_uc002abb.3_Silent_p.G121G	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	Homo sapiens gliomedin (GLDN), mRNA.	245	Pro-rich.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GGCCCCCAGGCCCTCCAGGTC	0.637000														39			11		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186669996	186669996	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:186669996G>A	uc002upl.3	+	16	16230	c.16230G>A	c.(16228-16230)agG>agA	p.R5410R	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CTCTGATAAGGGAATTTAAGA	0.299000														112			6		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169125406	169125406	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:169125406G>A	uc003maf.3	+	10	1088	c.1008G>A	c.(1006-1008)ggG>ggA	p.G336G	DOCK2_uc011der.2_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	336					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATCAAGGGGAAAGCAGAGA	0.403000														62			5		0	0	1	0	0
ELOVL7	79993	broad.mit.edu	37	5	60083182	60083182	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:60083182C>T	uc003jsi.4	-	2	243	c.43G>A	c.(43-45)Gat>Aat	p.D15N	ELOVL7_uc011cqo.2_5'UTR|ELOVL7_uc010iwk.3_Missense_Mutation_p.D15N|ELOVL7_uc003jsj.4_5'UTR	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	Homo sapiens ELOVL fatty acid elongase 7 (ELOVL7), transcript variant 1, mRNA.	15					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				ATCCAATTATCATAAAGATGC	0.358000														64			4		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151095814	151095814	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:151095814G>A	uc003eyp.3	+	28	4355	c.4226G>A	c.(4225-4227)aGg>aAg	p.R1409K	MED12L_uc011bnz.2_Missense_Mutation_p.R1269K|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.R572K	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1409					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCCGAACGCAGGGGTGTATGG	0.522000														102			12		0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56310459	56310459	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:56310459G>A	uc010rjl.2	-	0	275	c.275C>T	c.(274-276)tCc>tTc	p.S92F	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						ACCAGCAAAGGAAATGGTCTT	0.433000														85			9		0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210559669	210559669	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:210559669C>T	uc002vde.1	+	6	3023	c.2775C>T	c.(2773-2775)gtC>gtT	p.V925V	MAP2_uc002vdc.1_Silent_p.V925V|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.V921V	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	925					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CCGGAAGAGTCAAAGATGAGT	0.438000														74			21		0	0	1	0	0
EGR4	1961	broad.mit.edu	37	2	73519208	73519208	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:73519208C>T	uc010yrj.2	-	1	1222	c.1147G>A	c.(1147-1149)Gct>Act	p.A383T	EGR4_uc010yrk.1_Missense_Mutation_p.A382T	NM_001965	NP_001956	B7ZKU3	B7ZKU3_HUMAN	Homo sapiens early growth response 4 (EGR4), mRNA.	279						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGGCCCTCAGCCCCCTCCCCT	0.687000														11			4		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854214	12854214	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:12854214C>T	uc001auj.2	+	2	541	c.438C>T	c.(436-438)ccC>ccT	p.P146P		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	146										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGCACCAGCCCTTAAAGGTGT	0.547000														557			28		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179702035	179702035	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179702035C>T	uc002une.2	-	22	4029	c.3911G>A	c.(3910-3912)gGa>gAa	p.G1304E	CCDC141_uc002unf.1_Missense_Mutation_p.G783E	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	729							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTCCACGAATCCTCTGGAGGT	0.473000														99			15		0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124535245	124535245	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:124535245C>T	uc004bln.3	+	11	2423	c.2354C>T	c.(2353-2355)tCc>tTc	p.S785F	DAB2IP_uc004blo.3_Missense_Mutation_p.S689F|DAB2IP_uc004blp.3_Missense_Mutation_p.S218F	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	813					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCAGGCACCTCCGAGGGCGCG	0.726000														40			4		0	0	1	0	0
KCNJ14	3770	broad.mit.edu	37	19	48965201	48965201	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:48965201C>T	uc002pje.1	+	1	625	c.220C>T	c.(220-222)Ctg>Ttg	p.L74L	KCNJ14_uc002pjf.1_Silent_p.L74L	NM_013348	NP_733838	Q9UNX9	IRK14_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 14 (KCNJ14), transcript variant 1, mRNA.	74						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		CGCGCGCTACCTGAGCGACCT	0.667000														16			3		0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54147522	54147522	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:54147522G>A	uc003xrh.1	-	1	782	c.407C>T	c.(406-408)tCc>tTc	p.S136F	OPRK1_uc022aup.1_Missense_Mutation_p.S16F|OPRK1_uc003xri.1_Missense_Mutation_p.S136F|OPRK1_uc010lyc.1_Missense_Mutation_p.S47F	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	136					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GTAATCAATGGAAATTACTAT	0.473000														101			20		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539030	56539030	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:56539030C>T	uc002qmj.3	+	6	1431	c.1431C>T	c.(1429-1431)atC>atT	p.I477I	NLRP5_uc002qmi.3_Silent_p.I458I	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	477	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCTCTCTCATCTGCGTGGCCC	0.617000														41			9		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71175763	71175763	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:71175763G>A	uc003tvy.3	+	9	1518	c.1518G>A	c.(1516-1518)aaG>aaA	p.K506K	WBSCR17_uc003tvz.3_Silent_p.K205K	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	506	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.T505T(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GCTACACCAAGGAAGGCTTCC	0.637000														96			9		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35727825	35727825	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:35727825C>T	uc003jjo.3	+	20	3074	c.2963C>T	c.(2962-2964)tCa>tTa	p.S988L	SPEF2_uc003jjp.1_Missense_Mutation_p.S474L	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	988					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTAAAGAAATCACCTGCTGAC	0.403000														76			14		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168106756	168106756	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:168106756G>A	uc002udx.3	+	8	8943	c.8854G>A	c.(8854-8856)Gaa>Aaa	p.E2952K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E2777K|XIRP2_uc010fpq.3_Missense_Mutation_p.E2730K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2777					actin cytoskeleton organization	cell junction	actin binding	p.R2951L(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						GAGAAAACGTGAAGAACTGCA	0.378000														137			35		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43490510	43490510	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:43490510G>A	uc003tid.1	+	11	3087	c.2482G>A	c.(2482-2484)Gat>Aat	p.D828N	HECW1_uc011kbi.1_Intron	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	828					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCCAACAATCGATGAGCCTCT	0.423000														69			16		0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40231804	40231805	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:40231804_40231805GG>AA	uc003cka.3	+	9	1650_1651	c.1515_1516GG>AA	c.(1513-1518)agggag>agAAag	p.E506K	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.E506K|MYRIP_uc010hhw.3_Missense_Mutation_p.E417K|MYRIP_uc011ayz.2_Missense_Mutation_p.E319K|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	506	Actin-binding.|Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TGGCCAGCAGGGAGACCTCGGA	0.644000														114			13		0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59728227	59728227	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:59728227C>T	uc003xtw.1	-	6	1283	c.1062G>A	c.(1060-1062)tcG>tcA	p.S354S		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	354						nucleus	DNA binding	p.S354L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CCGACGGCTTCGAATTGATCA	0.517000														83			6		0	0	1	0	0
KIAA0664	23277	broad.mit.edu	37	17	2597496	2597496	+	Silent	SNP	G	A	A	rs11555440		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:2597496G>A	uc002fuy.1	-	17	2981	c.2895C>T	c.(2893-2895)ttC>ttT	p.F965F	KIAA0664_uc002fux.1_Silent_p.F898F|KIAA0664_uc010ckc.1_5'UTR	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	965							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						TGACCACGGGGAAGATGTTGA	0.642000														29			3		0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20384174	20384174	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:20384174C>T	uc002dhc.1	-	6	1091	c.868G>A	c.(868-870)Ggt>Agt	p.G290S		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	290					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ATTATGATACCATATGACTCG	0.423000														106			18		0	0	1	0	0
FERD3L	222894	broad.mit.edu	37	7	19184938	19184938	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:19184938G>A	uc003suo.1	-	0	107	c.48C>T	c.(46-48)ttC>ttT	p.F16F	BC043576_uc003sun.1_Non-coding_Transcript	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	Homo sapiens Fer3-like (Drosophila) (FERD3L), mRNA.	16					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.D15H(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						GGTCTGCGACGAAGTCCAGCA	0.672000														36			9		0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564815	46564815	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:46564815G>A	uc001ncv.2	-	6	1066	c.752C>T	c.(751-753)tCt>tTt	p.S251F	AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Missense_Mutation_p.S251F|AMBRA1_uc001ncu.1_Missense_Mutation_p.S251F|AMBRA1_uc010rgu.1_Missense_Mutation_p.S251F|AMBRA1_uc001ncw.2_Missense_Mutation_p.S251F|AMBRA1_uc001ncx.2_Missense_Mutation_p.S251F	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	251					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		p.R250S(1)|p.R250C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GATGCCAGAAGAGCGGGAGGA	0.617000														39			6		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57574473	57574473	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:57574473C>T	uc001snd.3	+	32	5876	c.5410C>T	c.(5410-5412)Cag>Tag	p.Q1804*		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1804					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGGGCTGATCAGGTGTCGGA	0.612000														65			16		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55086396	55086396	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:55086396C>T	uc010ern.3	+	4	1020	c.551C>T	c.(550-552)cCc>cTc	p.P184L	LILRA1_uc002qgg.4_Missense_Mutation_p.P184L|LILRA1_uc002qgf.3_Missense_Mutation_p.P184L|LILRA1_uc010yfe.1_Missense_Mutation_p.P184L|LILRA1_uc010yff.1_Missense_Mutation_p.P172L|LILRA1_uc010ero.3_Missense_Mutation_p.P172L|LILRA1_uc010yfg.1_Missense_Mutation_p.P184L			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	186	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.S183S(1)		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)		TCCGTGGGCCCCGTGAGCCCG	0.577000														187			22		0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46245706	46245706	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:46245706C>T	uc003cph.1	-	1	170	c.99G>A	c.(97-99)ggG>ggA	p.G33G	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Silent_p.G33G	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	33					G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GCAGTTGGGCCCCAAAGGCCC	0.522000														61			5		0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11169017	11169017	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:11169017C>T	uc010dxp.3	+	31	4871	c.4511C>T	c.(4510-4512)cCc>cTc	p.P1504L	SMARCA4_uc010dxo.3_Missense_Mutation_p.P1536L|SMARCA4_uc002mqf.4_Missense_Mutation_p.P1504L|SMARCA4_uc010dxq.3_Missense_Mutation_p.P1471L|SMARCA4_uc010dxr.3_Missense_Mutation_p.P1470L|SMARCA4_uc002mqj.4_Missense_Mutation_p.P1474L|SMARCA4_uc010dxs.3_Missense_Mutation_p.P1473L|SMARCA4_uc002mqh.4_Missense_Mutation_p.P594L	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1504	Bromo.				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ATCCGCAAGCCCGTGGACTTC	0.612000			"""F, N, Mis"""		NSCLC									54			5		0	0	1	0	0
RAB27A	5873	broad.mit.edu	37	15	55522634	55522634	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:55522634G>A	uc002aco.3	-	3	435	c.204C>T	c.(202-204)atC>atT	p.I68I	RAB27A_uc002acr.3_Silent_p.I68I|RAB27A_uc002acp.3_Silent_p.I68I|RAB27A_uc002acq.3_Silent_p.I68I	NM_183234	NP_899059	P51159	RB27A_HUMAN	Homo sapiens RAB27A, member RAS oncogene family (RAB27A), transcript variant 2, mRNA.	68					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		ACTGCAGGTGGATTCTCTGGC	0.468000														90			15		0	0	1	0	0
NPPB	4879	broad.mit.edu	37	1	11918470	11918470	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:11918470G>A	uc001atj.3	-	1	291	c.189C>T	c.(187-189)tcC>tcT	p.S63S		NM_002521	NP_002512	P16860	ANFB_HUMAN	Homo sapiens natriuretic peptide B (NPPB), mRNA.	63					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	GGGGCTCCAGGGATGTCTGCT	0.642000														36			3		0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26812824	26812824	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:26812824T>C	uc001zbb.3	-	7	1010	c.907A>G	c.(907-909)Att>Gtt	p.I303V	GABRB3_uc021sgg.1_Missense_Mutation_p.I176V|GABRB3_uc021sgh.1_Missense_Mutation_p.I162V|GABRB3_uc001zaz.3_Missense_Mutation_p.I247V|GABRB3_uc001zba.3_Missense_Mutation_p.I247V	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	247					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			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GTCTGAAGAATGAAGTATCCA	0.443000														80			9		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123345683	123345683	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:123345683C>T	uc003ego.3	-	30	5502	c.5220G>A	c.(5218-5220)atG>atA	p.M1740I	MYLK-AS1_uc003egk.3_Intron|MYLK_uc010hrr.3_Missense_Mutation_p.M175I|MYLK_uc011bjv.2_Missense_Mutation_p.M540I|MYLK_uc011bjw.2_Missense_Mutation_p.M1740I|MYLK_uc003egp.3_Missense_Mutation_p.M1671I|MYLK_uc003egq.3_Missense_Mutation_p.M1689I|MYLK_uc003egr.3_Missense_Mutation_p.M1620I|MYLK_uc003egs.3_Missense_Mutation_p.M1564I	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1740	Calmodulin-binding.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCCTTCTTGCCATGTACTTCT	0.498000														87			5		0	0	1	0	0
KLRC2	3822	broad.mit.edu	37	12	10568224	10568224	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:10568224C>T	uc001qyi.1	-	5	802	c.757G>A	c.(757-759)Gat>Aat	p.D253N	KLRC2_uc001qyf.3_Intron|KLRC2_uc021qvc.1_Intron|KLRC2_uc001qyh.3_Intron|KLRC2_uc021qvd.1_Missense_Mutation_p.D253N	NM_007333	NP_031359	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 2, mRNA.	0					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						ATCATAATATCATTTCTGTTT	0.284000														28			3		0	0	1	0	0
SAMD14	201191	broad.mit.edu	37	17	48191657	48191657	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:48191657C>T	uc002iqf.3	-	8	1219	c.920G>A	c.(919-921)aGt>aAt	p.S307N	SAMD14_uc002iqe.3_Missense_Mutation_p.S62N|SAMD14_uc002iqg.3_Missense_Mutation_p.S279N	NM_174920	NP_777580	Q8IZD0	SAM14_HUMAN	Homo sapiens sterile alpha motif domain containing 14 (SAMD14), mRNA.	279										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						GGAGTCATCACTCAGAGTGGA	0.582000														45			6		0	0	1	0	0
H2AFY2	55506	broad.mit.edu	37	10	71871389	71871389	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:71871389G>A	uc001jqm.3	+	8	1528	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	AIFM2_uc010qjg.2_Intron	NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	Homo sapiens H2A histone family, member Y2 (H2AFY2), mRNA.	357	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						CTTCGACAGCGAGAGCATCGG	0.602000														51			5		0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20198606	20198606	+	Silent	SNP	A	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:20198606A>G	uc003sus.4	-	4	1687	c.1378T>C	c.(1378-1380)Ttg>Ctg	p.L460L	MACC1_uc010kug.3_Silent_p.L460L	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	460					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CCTGCTTCCAACTGCTTTTGT	0.348000														86			5		0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126207041	126207041	+	Splice_Site	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:126207041C>T	uc010hsi.2	-	19	2024	c.1970_splice	c.e19+1	p.W657_splice	UROC1_uc003eiz.2_Splice_Site_p.W597_splice	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	597					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		ACCTTCTTACCAGCCCACGCC	0.612000														172			19		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16271392	16271392	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:16271392G>A	uc002den.4	-	18	2544	c.2507C>T	c.(2506-2508)tCc>tTc	p.S836F	ABCC6_uc010bvo.3_Intron	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	836	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CTCCTGGTAGGAACCCATCTC	0.577000														90			21		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149227553	149227553	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:149227553C>T	uc002twm.4	+	8	3038	c.2041C>T	c.(2041-2043)Cct>Tct	p.P681S	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_Missense_Mutation_p.P122S	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	681						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TTCTGCAGTTCCTAAACCTGG	0.448000														114			16		0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113928205	113928205	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:113928205G>A	uc009xxy.2	-	10	1182	c.972C>T	c.(970-972)acC>acT	p.T324T	GPAM_uc001kzp.3_Silent_p.T324T|GPAM_uc001kzq.1_Silent_p.T324T	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	324					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GAGCACAAGAGGTTTTTCCAC	0.423000														108			8		0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456609	5456609	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:5456609C>T	uc002mca.4	+	0	1184	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.	369						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CCTACAGCTTCAGGGACGAGG	0.677000														99			7		0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107434247	107434247	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:107434247C>T	uc003ver.2	-	2	422	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	SLC26A3_uc003ves.2_Missense_Mutation_p.E36K	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	71					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AGCAACCATTCTTTAAGCCGG	0.388000														78			5		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48271809	48271809	+	Splice_Site	SNP	C	T	T	rs72648352		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:48271809C>T	uc002iqm.3	-	23	1642	c.1516_splice	c.e23-1	p.G506_splice		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	506	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CAGCGGGACCCTGGTTGGGGG	0.612000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							68			4		0	0	1	0	0
ENPP3	5169	broad.mit.edu	37	6	132004286	132004286	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:132004286C>T	uc003qcu.4	+	12	1451	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	ENPP3_uc010kfo.1_Non-coding_Transcript|ENPP3_uc010kfp.1_Non-coding_Transcript|ENPP3_uc003qcv.3_Silent_p.I368I|ENPP3_uc010kfq.3_Non-coding_Transcript	NM_005021	NP_005012	O14638	ENPP3_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA.	368	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TCAATATCATCCTTCTGGCTG	0.333000														95			8		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20685389	20685389	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:20685389C>T	uc010kuh.3	+	7	926	c.689C>T	c.(688-690)tCa>tTa	p.S230L	ABCB5_uc003suw.4_5'Flank|ABCB5_uc003suv.4_5'Flank|ABCB5_uc011jyi.1_5'Flank	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	416			E -> V (in a colorectal cancer sample; somatic mutation).		regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.E230V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATGGTCATCTCATTGACCAGT	0.403000														84			24		0	0	1	0	0
INMT	11185	broad.mit.edu	37	7	30795310	30795310	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:30795310C>T	uc003tbs.1	+	2	651	c.635C>T	c.(634-636)tCc>tTc	p.S212F	FAM188B_uc010kwe.3_Intron|INMT_uc010kwc.1_Non-coding_Transcript|INMT_uc010kwd.1_Missense_Mutation_p.S211F	NM_006774	NP_006765	O95050	INMT_HUMAN	Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA.	212						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CGTGAATTTTCCTGCGTGGCC	0.597000														98			5		0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203383585	203383585	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:203383585C>T	uc002uzf.4	+	5	1810	c.662C>T	c.(661-663)tCc>tTc	p.S221F	BMPR2_uc010ftr.3_Missense_Mutation_p.S221F	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2), mRNA.	221	Protein kinase.				BMP signaling pathway|anterior/posterior pattern formation|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TATAAAGGCTCCTTGGATGAG	0.373000														75			5		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190067564	190067564	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:190067564G>A	uc001gse.1	-	7	2117	c.1885C>T	c.(1885-1887)Ctg>Ttg	p.L629L	FAM5C_uc010pot.1_Silent_p.L527L	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	629						extracellular region		p.Y628H(1)|p.L629Q(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CGACTTCTCAGGTAGATGTGT	0.453000														242			60		0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450968	105450968	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:105450968C>T	uc022cca.1	+	0	1543	c.1543C>T	c.(1543-1545)Cca>Tca	p.P515S	MUM1L1_uc004emg.2_Missense_Mutation_p.P515S|MUM1L1_uc004emf.2_Missense_Mutation_p.P515S	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	515										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GAACAAATTTCCAAAGCTGCA	0.428000														26			3		0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	76995231	76995231	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:76995231G>A	uc002bby.3	-	17	2419	c.2360C>T	c.(2359-2361)cCt>cTt	p.P787L	SCAPER_uc010bkr.3_Missense_Mutation_p.P95L|SCAPER_uc002bbx.3_Missense_Mutation_p.P541L|SCAPER_uc002bbz.1_Missense_Mutation_p.P658L|SCAPER_uc002bca.1_Missense_Mutation_p.P652L|SCAPER_uc002bcb.1_Missense_Mutation_p.P793L	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	786						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TCTTTCATAAGGGGTCAGTTT	0.383000														111			27		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633856	70633856	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:70633856G>A	uc001xly.3	-	1	2038	c.1284C>T	c.(1282-1284)acC>acT	p.T428T	SLC8A3_uc001xlw.3_Silent_p.T428T|SLC8A3_uc001xlx.3_Silent_p.T428T|SLC8A3_uc001xlz.3_Silent_p.T428T|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	428	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CCACATACATGGTCTTTGACA	0.517000														162			21		0	0	1	0	0
DQX1	165545	broad.mit.edu	37	2	74751426	74751426	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:74751426C>T	uc010yrw.2	-	3	605	c.440G>A	c.(439-441)tGg>tAg	p.W147*	DQX1_uc002smc.3_5'Flank	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA.	147	Helicase ATP-binding.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CAGCCTGTCCCAGCAGAACCT	0.582000														95			7		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55698706	55698706	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:55698706C>T	uc010qhy.1	-	25	3652	c.3257G>A	c.(3256-3258)gGa>gAa	p.G1086E	PCDH15_uc010qhq.2_Missense_Mutation_p.G1086E|PCDH15_uc010qhr.2_Missense_Mutation_p.G1081E|PCDH15_uc021pqv.1_Missense_Mutation_p.G1081E|PCDH15_uc021pqw.1_Missense_Mutation_p.G1093E|PCDH15_uc010qht.2_Missense_Mutation_p.G1088E|PCDH15_uc021pqx.1_Missense_Mutation_p.G1081E|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.G1081E|PCDH15_uc021pqz.1_Missense_Mutation_p.G1059E|PCDH15_uc010qhv.1_Missense_Mutation_p.G1081E|PCDH15_uc010qhw.1_Missense_Mutation_p.G1044E|PCDH15_uc010qhx.1_Missense_Mutation_p.G1010E|PCDH15_uc010qhz.1_Missense_Mutation_p.G1081E|PCDH15_uc010qia.1_Missense_Mutation_p.G1059E|PCDH15_uc001jju.1_Missense_Mutation_p.G1081E|PCDH15_uc010qib.1_Missense_Mutation_p.G1059E	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1081	Cadherin 10.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTATTAATTCCAAATGTATC	0.358000										HNSCC(58;0.16)				57			4		0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55286852	55286852	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:55286852C>T	uc010erz.1	+	3	644	c.606C>T	c.(604-606)ttC>ttT	p.F202F	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Non-coding_Transcript|KIR2DL1_uc002qhb.1_Silent_p.F202F	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	202	Ig-like C2-type 2.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		TCGGCTCTTTCCATGACTCTC	0.557000														301			30		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807820	15807820	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:15807820G>A	uc002nbl.3	+	12	1619	c.1500G>A	c.(1498-1500)agG>agA	p.R500R		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					AGCCCCGCAGGAAGCTGGAAT	0.597000														62			7		0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784402	151784402	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:151784402G>A	uc003luv.2	-	0	439	c.273C>T	c.(271-273)gaC>gaT	p.D91D		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	91					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GGACCAGGAGGTCAGAGACCG	0.587000														124			14		0	0	1	0	0
ZNF248	57209	broad.mit.edu	37	10	38120867	38120867	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:38120867G>A	uc001izd.1	-	5	1915	c.1416C>T	c.(1414-1416)tcC>tcT	p.S472S	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.3_Intron|ZNF248_uc001izc.3_Intron|ZNF248_uc010qeu.1_Silent_p.S472S	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	Homo sapiens zinc finger protein 248 (ZNF248), mRNA.	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TGTGGCAGAAGGATTTCCCAC	0.438000														145			13		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80655764	80655764	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:80655764G>A	uc001szd.3	+	17	1884	c.1878G>A	c.(1876-1878)atG>atA	p.M626I		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.									p.M626I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CATCAGGCATGATAGAAGGTA	0.398000														59			4		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646713	57646713	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:57646713C>T	uc002qnz.1	-	4	1378	c.992G>A	c.(991-993)gGa>gAa	p.G331E		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGGTTTCTCTCCCGTGTGTAT	0.403000														192			14		0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99491830	99491830	+	Silent	SNP	C	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:99491830C>A	uc002bul.3	+	19	3665	c.3615C>A	c.(3613-3615)atC>atA	p.I1205I	IGF1R_uc010bon.3_Silent_p.I1204I	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	1205	Protein kinase.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TCTGGGAGATCGCCACACTGG	0.582000														170			7		0.0293803	0.0294007	1	1	0
C12orf40	283461	broad.mit.edu	37	12	40114710	40114710	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:40114710G>A	uc001rmc.3	+	12	1783	c.1616G>A	c.(1615-1617)aGg>aAg	p.R539K	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	539										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TCAGGTGACAGGATTGTTAAA	0.323000														79			12		0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57059672	57059672	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:57059672C>T	uc021tiu.1	+	4	944	c.817C>T	c.(817-819)Ccg>Tcg	p.P273S	NLRC5_uc021tit.1_Missense_Mutation_p.P273S|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Missense_Mutation_p.P78S|NLRC5_uc021tiw.1_Missense_Mutation_p.P78S|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	273	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GTTCCTGACACCGTCCGAGCT	0.542000														107			16		0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68607989	68607989	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:68607989G>A	uc002sen.4	+	2	495	c.333G>A	c.(331-333)agG>agA	p.R111R	PLEK_uc010fde.3_Silent_p.R111R	NM_002664	NP_002655	P08567	PLEK_HUMAN	Homo sapiens pleckstrin (PLEK), mRNA.	111					actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	p.A110D(1)|p.A110T(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AATTTGCCAGGAAATCTACCA	0.463000														229			26		0	0	1	0	0
TMEM17	200728	broad.mit.edu	37	2	62728452	62728452	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:62728452C>T	uc002sbt.2	-	3	829	c.489G>A	c.(487-489)agG>agA	p.R163R	TMEM17_uc002sbu.2_3'UTR|TMEM17_uc002sbv.1_3'UTR	NM_198276	NP_938017	Q86X19	TMM17_HUMAN	Homo sapiens transmembrane protein 17 (TMEM17), mRNA.	163						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			TAACCATTTTCCTTAAGGTAA	0.423000														139			21		0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007822	6007822	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:6007822G>A	uc001mcd.2	-	0	394	c.339C>T	c.(337-339)atC>atT	p.I113I		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	113					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)		TCAGGCAGACGATGTACCCAA	0.547000														53			5		0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55284956	55284957	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:55284956_55284957CC>TT	uc010erz.1	+	2	280_281	c.242_243CC>TT	c.(241-243)tcc>tTT	p.S81F	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Missense_Mutation_p.S81F	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	81	Ig-like C2-type 1.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		GATGGGGTCTCCAAGGCCAACT	0.520000														243			17		0	0	1	0	0
NUAK2	81788	broad.mit.edu	37	1	205273504	205273504	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:205273504C>A	uc001hce.3	-	6	1088	c.961G>T	c.(961-963)Ggg>Tgg	p.G321W		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	321					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCAGGGTGCCCACCCTCATGC	0.692000														38			4		0.014758	0.0147887	1	1	0
DEFB129	140881	broad.mit.edu	37	20	207945	207945	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:207945C>T	uc002wda.3	+	0	47	c.16C>T	c.(16-18)Cct>Tct	p.P6S		NM_080831	NP_543021	Q9H1M3	DB129_HUMAN	Homo sapiens defensin, beta 129 (DEFB129), mRNA.	6					defense response to bacterium	extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			GCTCCTTTTTCCTATCTTTGC	0.498000														102			15		0	0	1	0	0
ZDHHC19	131540	broad.mit.edu	37	3	195925225	195925225	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:195925225G>A	uc003fwc.3	-	6	985	c.871C>T	c.(871-873)Ccc>Tcc	p.P291S	ZDHHC19_uc010iaa.3_Non-coding_Transcript|ZDHHC19_uc010hzz.3_Non-coding_Transcript|ZDHHC19_uc010iab.3_Intron	NM_001039617	NP_001034706	Q8WVZ1	ZDH19_HUMAN	Homo sapiens zinc finger, DHHC-type containing 19 (ZDHHC19), mRNA.	291						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		GGGGCTGGGGGGTTGAGAGCA	0.627000														44			6		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35606077	35606077	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:35606077G>A	uc003xjr.2	+	11	2127	c.1799G>A	c.(1798-1800)aGt>aAt	p.S600N	UNC5D_uc003xjs.2_Missense_Mutation_p.S595N|UNC5D_uc003xju.2_Missense_Mutation_p.S176N	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	600	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GTGCTCCTGAGTCCTGAAGTC	0.478000														116			8		0	0	1	0	0
TRIP13	9319	broad.mit.edu	37	5	917203	917203	+	Silent	SNP	T	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:917203T>C	uc003jbr.3	+	12	1429	c.1284T>C	c.(1282-1284)ctT>ctC	p.L428L		NM_004237	NP_004228	Q15645	PCH2_HUMAN	Homo sapiens thyroid hormone receptor interactor 13 (TRIP13), transcript variant 1, mRNA.	428					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			GAAAGAAGCTTGCAGCTTACA	0.552000														44			13		0	0	1	0	0
DYRK4	8798	broad.mit.edu	37	12	4708927	4708927	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:4708927G>A	uc009zeh.1	+	9	1141	c.1099G>A	c.(1099-1101)Gga>Aga	p.G367R	DYRK4_uc001qmx.3_Missense_Mutation_p.G252R|DYRK4_uc001qmy.2_Missense_Mutation_p.G252R|DYRK4_uc021qtq.1_Missense_Mutation_p.G106R	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	252	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G654R(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CATTGACTTTGGATCAAGCTG	0.428000														91			6		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170002370	170002370	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:170002370C>T	uc002ues.3	-	69	13088	c.12875G>A	c.(12874-12876)gGa>gAa	p.G4292E		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4292					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)	CCATACTTCTCCCTTTTCCTT	0.408000														74			11		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370170	86370170	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr13:86370170C>T	uc001vll.1	-	1	933	c.474G>A	c.(472-474)aaG>aaA	p.K158K	SLITRK6_uc021rla.1_Silent_p.K158K	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	158						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)		GTCTGTTGAGCTTGCTAAAGG	0.373000														170			10		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22592107	22592107	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:22592107C>T	uc001wdd.2	+	1	339	c.192C>T	c.(190-192)atC>atT	p.I64I	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc010ajj.1_Silent_p.I64I|TCRA_uc001wde.1_Silent_p.I38I|TCRA_uc010aji.1_Silent_p.I64I					Homo sapiens TRA mRNA for T cell receptor alpha chain, partial cds, allele:TRAV19*01+TRAJ53*01.																		CACAGTATATCATTCATGGTC	0.453000														71			5		0	0	1	0	0
MPL	4352	broad.mit.edu	37	1	43818270	43818270	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:43818270C>T	uc001ciw.3	+	11	1780	c.1735C>T	c.(1735-1737)Cct>Tct	p.P579S	MPL_uc009vwr.3_Missense_Mutation_p.P572S	NM_005373	NP_005364	P40238	TPOR_HUMAN	Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.	579					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGAGAGGACTCCTTTGCCCCT	0.582000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia							65			6		0	0	1	0	0
GOLGA8DP	100132979	broad.mit.edu	37	15	22709218	22709218	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:22709218G>A	uc010axw.2	-	10	1179	c.281C>T	c.(280-282)cCc>cTc	p.P94L	abParts_uc001yuj.2_Intron|GOLGA8DP_uc010axx.2_Missense_Mutation_p.P94L|DQ588687_uc010tzw.1_5'Flank|DQ582939_uc021sfj.1_5'Flank					Homo sapiens golgin A8 family, member D, pseudogene (GOLGA8DP), non-coding RNA.																		CACTGCTGGGGGCTCCGGGGG	0.517000														89			6		0	0	1	0	0
PGAP1	80055	broad.mit.edu	37	2	197707546	197707546	+	Nonsense_Mutation	SNP	A	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:197707546A>T	uc002utw.3	-	25	2643	c.2529T>A	c.(2527-2529)taT>taA	p.Y843*	PGAP1_uc002utx.3_Nonsense_Mutation_p.Y669*|PGAP1_uc010fsi.3_Intron	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	Homo sapiens post-GPI attachment to proteins 1 (PGAP1), mRNA.	843					C-terminal protein lipidation|attachment of GPI anchor to protein|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GTTTAAAATAATACCTATAAT	0.279000														28			3		0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56511000	56511000	+	Silent	SNP	G	A	A	rs147756755		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:56511000G>A	uc010rjo.2	-	0	288	c.288C>T	c.(286-288)atC>atT	p.I96I		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AACTGGCCAGGATTTTGGGGG	0.438000														128			10		0	0	1	0	0
NRF1	4899	broad.mit.edu	37	7	129348935	129348935	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:129348935C>T	uc003vpa.3	+	5	747	c.627C>T	c.(625-627)atC>atT	p.I209I	NRF1_uc003voz.3_Silent_p.I209I|NRF1_uc011kpa.2_Silent_p.I48I|NRF1_uc003vpb.3_Silent_p.I209I	NM_005011	NP_005002	Q16656	NRF1_HUMAN	Homo sapiens nuclear respiratory factor 1 (NRF1), transcript variant 1, mRNA.	209					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GGGCATTTATCCCAGAGATGC	0.488000														450			48		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121758902	121758902	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:121758902C>A	uc003ksw.1	+	3	676	c.470C>A	c.(469-471)cCt>cAt	p.P157H	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.P157H|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.P204H|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.P157H	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	157					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CTGGATGTGCCTTATATTAAA	0.493000														135			6		3.59834e-05	3.63868e-05	1	1	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74623617	74623617	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:74623617G>A	uc002jsh.3	-	2	1054	c.880C>T	c.(880-882)Cag>Tag	p.Q294*	ST6GALNAC1_uc002jsi.3_Nonsense_Mutation_p.Q162*|ST6GALNAC1_uc002jsj.3_Non-coding_Transcript	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 (ST6GALNAC1), mRNA.	294					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						AAGAGTTTCTGGAGCCACAGC	0.537000														117			9		0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26620447	26620447	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:26620447G>A	uc001mqt.4	+	15	1718	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	ANO3_uc010rdr.2_Missense_Mutation_p.E509K|ANO3_uc010rds.2_Missense_Mutation_p.E364K|ANO3_uc010rdt.2_Missense_Mutation_p.E379K	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	525						chloride channel complex	chloride channel activity	p.E525D(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TTACAAGATGGAGATTGTAAA	0.393000														44			8		0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81967607	81967607	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:81967607G>A	uc003hmg.4	+	1	1352	c.1032G>A	c.(1030-1032)cgG>cgA	p.R344R		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	344					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.R344W(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GGCCTCATCGGAAGAGCCAGA	0.498000														98			8		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90260159	90260159	+	RNA	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:90260159G>A	uc010yts.2	+	40		c.5427G>A								Parts of antibodies, mostly variable regions.																		CAGTGGCAGTGGATCTGGGAC	0.468000														215			43		0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13357349	13357349	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:13357349T>C	uc003wwm.2	-	1	676	c.232A>G	c.(232-234)Atg>Gtg	p.M78V	DLC1_uc003wwn.3_Missense_Mutation_p.M78V|DLC1_uc011kxy.2_Missense_Mutation_p.M78V	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	78					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGATGACCCATTGGCCTCCCA	0.453000														311			15		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161152886	161152886	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:161152886C>T	uc003qtm.4	+	11	1660	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	516	Kringle 5.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACAGCATTTTCACTCCAGAGA	0.512000														111			12		0	0	1	0	0
REEP2	51308	broad.mit.edu	37	5	137780108	137780108	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:137780108C>T	uc003lda.3	+	3	309	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S	REEP2_uc003lcz.3_Missense_Mutation_p.P63S|REEP2_uc011cyt.2_Missense_Mutation_p.P24S	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	Homo sapiens receptor accessory protein 2 (REEP2), mRNA.	63						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAACAGGTTCCCCTTCTACTT	0.607000														90			8		0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7847217	7847217	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:7847217G>A	uc010rbg.2	-	0	303	c.303C>T	c.(301-303)ctC>ctT	p.L101L		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTACAGAACAGAGCTGGGCCA	0.532000														143			10		0	0	1	0	0
CTDP1	9150	broad.mit.edu	37	18	77477655	77477655	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr18:77477655A>T	uc002lnh.2	+	8	2336	c.2189A>T	c.(2188-2190)gAc>gTc	p.D730V	CTDP1_uc002lni.2_Missense_Mutation_p.D730V|CTDP1_uc010drd.2_Missense_Mutation_p.D730V|CTDP1_uc021ult.1_Missense_Mutation_p.D611V	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.	730					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)		CCGCTCAGGGACGATCACACC	0.642000														70			5		0	0	1	0	0
ALDOA	226	broad.mit.edu	37	16	30080251	30080251	+	Silent	SNP	C	T	T	rs11553120		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:30080251C>T	uc010veg.2	+	5	922	c.654C>T	c.(652-654)atC>atT	p.I218I	BOLA2_uc010bzb.1_Intron|ALDOA_uc002dvx.3_Silent_p.I164I|ALDOA_uc002dvw.3_Silent_p.I164I|ALDOA_uc002dvz.3_Silent_p.I164I|ALDOA_uc002dwa.4_Silent_p.I164I|ALDOA_uc002dwc.3_Silent_p.I164I	NM_001243177	NP_001230106	P04075	ALDOA_HUMAN	Homo sapiens aldolase A, fructose-bisphosphate (ALDOA), transcript variant 6, mRNA.	164					ATP biosynthetic process|actin filament organization|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	I band|actin cytoskeleton|cytosol|extracellular vesicular exosome|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						CCCTCGCCATCATGGAAAATG	0.562000											OREG0023729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		91			27		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51780227	51780227	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:51780227G>A	uc010ufy.2	-	21	5366	c.5141C>T	c.(5140-5142)tCc>tTc	p.S1714F	DMXL2_uc002abf.3_Missense_Mutation_p.S1714F|DMXL2_uc010bfa.3_Missense_Mutation_p.S1078F	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1714						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)		TCCAAGTAAGGAAAAAGCATT	0.373000														184			28		0	0	1	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733256	56733256	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:56733256G>A	uc002qmq.3	-	4	1345	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	ZSCAN5A_uc010ygi.2_Silent_p.F276F|ZSCAN5A_uc002qmr.3_Silent_p.F393F|ZSCAN5A_uc002qms.1_Silent_p.F392F	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.	393					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F393L(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TAAGCTGCATGAAGCGCTTCC	0.502000														42			4		0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124591857	124591857	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:124591857G>A	uc001lgs.3	-	10	2712	c.1761C>T	c.(1759-1761)atC>atT	p.I587I	CUZD1_uc001lgp.3_Silent_p.I306I|CUZD1_uc009yad.3_Silent_p.I306I|CUZD1_uc009yaf.3_Silent_p.I221I|CUZD1_uc001lgr.3_Silent_p.I306I|CUZD1_uc010qty.2_Silent_p.I306I|CUZD1_uc009yae.3_Silent_p.I306I|CUZD1_uc010qtz.2_Silent_p.I587I	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	587					cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		GCCTCACTGTGATTGTCGCTA	0.433000														170			11		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153149856	153149856	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:153149856C>T	uc011dcy.2	+	12	2208	c.2181C>T	c.(2179-2181)ctC>ctT	p.L727L	GRIA1_uc003lva.4_Silent_p.L717L|GRIA1_uc003luy.4_Silent_p.L717L|GRIA1_uc003luz.4_Silent_p.L622L|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.L637L|GRIA1_uc011dcx.2_Silent_p.L648L|GRIA1_uc011dcz.2_Silent_p.L727L	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	717					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.I726F(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATGCCTACCTCCTGGAGTCCA	0.493000														75			4		0	0	1	0	0
WDR75	84128	broad.mit.edu	37	2	190327289	190327289	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:190327289C>T	uc002uql.1	+	8	918	c.858C>T	c.(856-858)ctC>ctT	p.L286L	WDR75_uc002uqm.1_Silent_p.L222L|WDR75_uc002uqn.1_Silent_p.L64L	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	Homo sapiens WD repeat domain 75 (WDR75), mRNA.	286						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			AGGAGTTTCTCCCGCGTTTAG	0.423000														134			15		0	0	1	0	0
CD4	920	broad.mit.edu	37	12	6909590	6909590	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:6909590C>T	uc001qqv.2	+	2	425	c.167C>T	c.(166-168)tCc>tTc	p.S56F	CD4_uc009zfa.2_Intron|CD4_uc009zez.2_Intron|CD4_uc009zfb.2_Intron|CD4_uc010sfj.2_Intron|CD4_uc009zfc.2_Intron|CD4_uc010sfl.2_Intron|CD4_uc010sfk.2_Intron	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	56	Ig-like V-type.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	p.N55N(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				TGGAAAAACTCCAACCAGATA	0.473000														67			12		0	0	1	0	0
MFSD11	79157	broad.mit.edu	37	17	74774296	74774296	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:74774296C>T	uc002jta.2	+	13	2185	c.1212C>T	c.(1210-1212)ttC>ttT	p.F404F	MFSD11_uc002jtd.4_Silent_p.F404F|MFSD11_uc002jtb.3_Silent_p.F404F|MFSD11_uc002jtc.3_Silent_p.F404F|MFSD11_uc002jte.3_Silent_p.F404F|MFSD11_uc010dhb.3_Silent_p.F352F|MFSD11_uc010dha.3_Silent_p.F352F	NM_001242534	NP_001229463	O43934	MFS11_HUMAN	Homo sapiens major facilitator superfamily domain containing 11 (MFSD11), transcript variant 3, mRNA.	404						integral to membrane		p.F404L(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TGGCATTTTTCTACAGCAACT	0.498000														71			6		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51790822	51790822	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:51790822G>A	uc010ufy.2	-	17	4824	c.4599C>T	c.(4597-4599)ttC>ttT	p.F1533F	DMXL2_uc002abf.3_Silent_p.F1533F|DMXL2_uc010bfa.3_Intron	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1533						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)		AAGCTACAAGGAACATCTGCT	0.413000														77			15		0	0	1	0	0
DDX53	168400	broad.mit.edu	37	X	23018472	23018472	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:23018472G>A	uc004daj.3	+	0	395	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.	100	KH.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						TGGCAATAGGGAAATGAAAGC	0.378000														58			24		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89401577	89401577	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:89401577G>A	uc010upo.1	+	11	6135	c.5761G>A	c.(5761-5763)Gca>Aca	p.A1921T	ACAN_uc010upp.1_Missense_Mutation_p.A1921T|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1921					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCCCTCGGGAGCATATTATGG	0.532000														77			11		0	0	1	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32925188	32925188	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:32925188G>A	uc001zgy.1	+	8	1836	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	ARHGAP11A_uc010ubw.1_Missense_Mutation_p.D183N|ARHGAP11A_uc001zgw.3_Missense_Mutation_p.D372N|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.D183N	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Homo sapiens Rho GTPase activating protein 11A (ARHGAP11A), transcript variant 1, mRNA.	372					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.I371I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		AGTTCACATCGATACAAGCTC	0.363000														118			23		0	0	1	0	0
SH3GL3	6457	broad.mit.edu	37	15	84257427	84257427	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:84257427T>A	uc002bjw.3	+	7	937	c.742T>A	c.(742-744)Tcc>Acc	p.S248T	SH3GL3_uc010uot.1_Missense_Mutation_p.S248T|SH3GL3_uc002bjx.3_Missense_Mutation_p.S179T|SH3GL3_uc002bju.3_Missense_Mutation_p.S256T|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	248	BAR.|Interaction with ARC (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						ATCAGCTGCATCCAGTGTCCC	0.468000														39			5		0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122623425	122623425	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:122623425G>A	uc001ubq.3	+	14	2556	c.2448G>A	c.(2446-2448)atG>atA	p.M816I	MLXIP_uc001ubt.3_Missense_Mutation_p.M423I	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	Homo sapiens MLX interacting protein (MLXIP), mRNA.	816					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		TTGATCACATGAAAGACATGT	0.547000														46			8		0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49943339	49943339	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:49943339C>T	uc001ruh.1	+	8	1844	c.1584C>T	c.(1582-1584)caC>caT	p.H528H	KCNH3_uc010smj.1_Silent_p.H468H	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	528					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TCCGCATCCACCGTATCCCCA	0.647000														63			5		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67862998	67862998	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:67862998C>T	uc009xpn.1	-	13	2017	c.1894G>A	c.(1894-1896)Gaa>Aaa	p.E632K	CTNNA3_uc001jmw.2_Missense_Mutation_p.E632K	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	632					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.E631D(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TCCTCCAGTTCCTCTGGGGTC	0.438000														57			6		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179620142	179620142	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:179620142C>T	uc010pnp.2	+	11	2459	c.1941C>T	c.(1939-1941)ttC>ttT	p.F647F	TDRD5_uc021pfm.1_Silent_p.F647F|TDRD5_uc001gnf.2_Silent_p.F647F|TDRD5_uc021pfn.1_Silent_p.F647F|TDRD5_uc001gnh.2_Silent_p.F202F	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	647					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATGTCTATTTCCATCATGTCT	0.383000														119			14		0	0	1	0	0
APEX2	27301	broad.mit.edu	37	X	55028746	55028746	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:55028746C>T	uc004dtz.3	+	2	380	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L	APEX2_uc011mom.2_Intron	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN	Homo sapiens APEX nuclease (apurinic/apyrimidinic endonuclease) 2 (APEX2), nuclear gene encoding mitochondrial protein, mRNA.	102					DNA recombination|DNA repair|cell cycle	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	p.L102M(2)		breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						CCTGAGTGGCCTGTTTGCCAC	0.562000								Other BER factors						38			5		0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770583	53770583	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:53770583C>T	uc010ydu.2	-	0	336	c.336G>A	c.(334-336)agG>agA	p.R112R		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	Homo sapiens vomeronasal 1 receptor 4 (VN1R4), mRNA.	112					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	p.R112R(2)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		ACCTGGATTTCCTGGAGCTGA	0.498000										HNSCC(26;0.072)				50			7		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592577	38592577	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:38592577G>A	uc021wvo.1	-	26	5338	c.5286C>T	c.(5284-5286)atC>atT	p.I1762I	SCN5A_uc021wvk.1_Silent_p.I1729I|SCN5A_uc021wvl.1_Silent_p.I1708I|SCN5A_uc021wvm.1_Silent_p.I1744I|SCN5A_uc021wvn.1_Silent_p.I1761I|SCN5A_uc021wvp.1_Silent_p.I1762I|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Silent_p.I1574I|SCN5A_uc021wvi.1_Silent_p.I1628I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1762					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGTTGACCACGATGAGGAAGG	0.572000														114			22		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101870865	101870865	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:101870865C>T	uc003uys.4	+	20	3509	c.3382C>T	c.(3382-3384)Caa>Taa	p.Q1128*	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Nonsense_Mutation_p.Q1117*	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	1117					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCTCAGCATCCAAGAATTAGT	0.617000														93			6		0	0	1	0	0
IGFL4	444882	broad.mit.edu	37	19	46543619	46543619	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:46543619G>A	uc002pdy.1	-	2	180	c.126C>T	c.(124-126)aaC>aaT	p.N42N		NM_001002923	NP_001002923	Q6B9Z1	IGFL4_HUMAN	Homo sapiens IGF-like family member 4 (IGFL4), mRNA.	42						extracellular region				cervix(1)|kidney(1)|lung(1)	3		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		GCTCCAAGGGGTTGTAGGTCC	0.617000														69			6		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149500574	149500574	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:149500574C>T	uc010lpk.3	+	53	7966	c.7966C>T	c.(7966-7968)Ccc>Tcc	p.P2656S		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2659	TIL 4.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATGCCGCTGTCCCCCGGGGCT	0.677000														38			4		0	0	1	0	0
TMEM177	80775	broad.mit.edu	37	2	120438440	120438440	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:120438440C>T	uc021vnk.1	+	0	11	c.11C>T	c.(10-12)cCc>cTc	p.P4L	TMEM177_uc002tme.2_Intron|TMEM177_uc010flg.1_Missense_Mutation_p.P4L|TMEM177_uc002tmc.1_Missense_Mutation_p.P4L|TMEM177_uc002tmd.2_Missense_Mutation_p.P4L|TMEM177_uc010flh.3_Missense_Mutation_p.P4L	NM_030577	NP_085054	Q53S58	TM177_HUMAN	Homo sapiens transmembrane protein 177 (TMEM177), transcript variant 2, mRNA.	4						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					ATGGCAGGTCCCCTGTGGCGG	0.567000														51			6		0	0	1	0	0
AK308309	0	broad.mit.edu	37	4	119435180	119435180	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:119435180G>A	uc010imy.1	+	1	535	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	CEP170P1_uc003icb.3_5'Flank					Homo sapiens cDNA, FLJ98257.																		ATGTAGGGAGGAAACTTTTAA	0.388000														58			8		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475181	140475181	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:140475181G>A	uc003lil.3	+	0	945	c.807G>A	c.(805-807)agG>agA	p.R269R	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	269	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCTGCCAGGGATTTAGACA	0.468000														86			6		0	0	1	0	0
DOC2A	8448	broad.mit.edu	37	16	30018571	30018571	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:30018571C>T	uc002dvn.3	-	5	768	c.577G>A	c.(577-579)Gag>Aag	p.E193K	BOLA2_uc010bzb.1_Intron|DOC2A_uc010vef.2_Non-coding_Transcript|DOC2A_uc002dvo.3_Missense_Mutation_p.E193K|DOC2A_uc002dvp.3_Missense_Mutation_p.E193K|DOC2A_uc002dvq.3_Missense_Mutation_p.E193K	NM_003586	NP_003577	Q14183	DOC2A_HUMAN	Homo sapiens double C2-like domains, alpha (DOC2A), mRNA.	193	C2 1.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						ACGCGGATCTCCCCAATAAAC	0.622000														91			14		0	0	1	0	0
IFNAR2	3455	broad.mit.edu	37	21	34655486	34655486	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr21:34655486C>T	uc002yrl.1	+	3	1003	c.592C>T	c.(592-594)Cct>Tct	p.P198S	IFNAR2_uc002yri.1_Missense_Mutation_p.P149S|IFNAR2_uc002yrh.1_Missense_Mutation_p.P266S|IFNAR2_uc002yrk.1_Missense_Mutation_p.P196S	NM_000628	NP_000619	P48551	INAR2_HUMAN	Homo sapiens interleukin 10 receptor, beta (IL10RB), mRNA.	213					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AGGGTTTCTTCCTGATCGGAA	0.478000														68			4		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128478854	128478854	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:128478854G>A	uc003vnz.4	+	7	1617	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	FLNC_uc003voa.4_Missense_Mutation_p.E470K	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	470					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCATGTGTCGGAAGGTAAGGG	0.642000														90			13		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42045906	42045906	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:42045906G>A	uc001cgz.4	-	3	5776	c.4563C>T	c.(4561-4563)tcC>tcT	p.S1521S	HIVEP3_uc001cha.4_Silent_p.S1521S|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1521					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTGTCCCATGGGACAATGCAG	0.557000														78			6		0	0	1	0	0
MARVELD2	153562	broad.mit.edu	37	5	68715934	68715934	+	Missense_Mutation	SNP	G	C	C	rs143719499	byFrequency	TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:68715934G>C	uc003jwq.3	+	1	796	c.722G>C	c.(721-723)aGt>aCt	p.S241T	MARVELD2_uc010ixf.3_Missense_Mutation_p.S241T|MARVELD2_uc003jws.1_Non-coding_Transcript	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	241	MARVEL.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		GGATTGGGCAGTATGTATGGG	0.468000														117			12		0	0	1	0	0
HAVCR2	84868	broad.mit.edu	37	5	156531714	156531714	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:156531714G>A	uc003lwk.2	-	2	695	c.441C>T	c.(439-441)gcC>gcT	p.A147A		NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	Homo sapiens hepatitis A virus cellular receptor 2 (HAVCR2), mRNA.	147						integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCTTGGAAAGGCTGCAGTGA	0.478000														7			3		0	0	1	0	0
MRPL30	51263	broad.mit.edu	37	2	99804688	99804688	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:99804688C>T	uc002szu.3	+	2	298	c.100C>T	c.(100-102)Cac>Tac	p.H34Y	MRPL30_uc002szl.1_Non-coding_Transcript|MRPL30_uc002szr.3_Missense_Mutation_p.H34Y|MRPL30_uc002szv.3_Missense_Mutation_p.H34Y	NM_145212	NP_660213	Q8TCC3	RM30_HUMAN	Homo sapiens mitochondrial ribosomal protein L30 (MRPL30), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	34					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						TTGGATTCGTCACAAATTCAC	0.289000														16			3		0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107722926	107722926	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:107722926G>A	uc011lht.2	+	8	1803	c.1704G>A	c.(1702-1704)agG>agA	p.R568R	OXR1_uc022azp.1_Silent_p.R567R|OXR1_uc003ymf.3_Silent_p.R567R|OXR1_uc011lhu.2_Silent_p.R560R|OXR1_uc010mcg.3_Intron|OXR1_uc010mch.3_Silent_p.R265R	NM_001198532	NP_001185461	Q8N573	OXR1_HUMAN	Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.	568					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)			AACCAATGAGGAAAACGTTTG	0.368000														68			23		0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50335086	50335086	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:50335086G>A	uc002egd.1	+	8	1597	c.1329G>A	c.(1327-1329)aaG>aaA	p.K443K	ADCY7_uc002egb.1_Silent_p.K443K|ADCY7_uc002egc.2_Silent_p.K443K	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	443					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)	CCTACCTCAAGGAGATGAACA	0.677000														23			3		0	0	1	0	0
KLRG2	346689	broad.mit.edu	37	7	139164393	139164393	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:139164393G>A	uc003vvb.3	-	2	1054	c.985C>T	c.(985-987)Ccc>Tcc	p.P329S	KLRG2_uc010lnc.3_Intron	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily G, member 2 (KLRG2), mRNA.	329	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					CTTAGCAGGGGGAGGGTAGCG	0.552000														145			10		0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135370406	135370406	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:135370406C>T	uc003vtb.3	-	13	2161	c.1472G>A	c.(1471-1473)gGg>gAg	p.G491E	SLC13A4_uc003vta.3_Missense_Mutation_p.G490E|C7orf73_uc003vsz.4_Intron	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA.	490						integral to plasma membrane	sodium:sulfate symporter activity	p.G490W(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CATCTGGTTCCCAATCCATGT	0.522000														214			21		0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7862547	7862547	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:7862547C>T	uc003mxu.4	+	3	1198	c.1020C>T	c.(1018-1020)caC>caT	p.H340H		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	340					BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TCCACGTCCACCCCCGAGCCG	0.517000														116			6		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94056320	94056320	+	Splice_Site	SNP	G	A	A	rs72659325		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:94056320G>A	uc003ung.1	+	47	3577	c.3106_splice	c.e47-1	p.G1036_splice	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	1036					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GTCTTTAAAGGGTCACCATGG	0.418000										HNSCC(75;0.22)				39			6		0	0	1	0	0
C17orf28	283987	broad.mit.edu	37	17	72956160	72956160	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:72956160C>T	uc002jmj.4	-	6	1061	c.912G>A	c.(910-912)gtG>gtA	p.V304V	C17orf28_uc010wrs.2_Silent_p.V103V|C17orf28_uc002jmk.2_Silent_p.V303V	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.	304						integral to membrane|plasma membrane	protein binding			endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17	all_lung(278;0.151)|Lung NSC(278;0.185)					TGGTGCCGTCCACAGTGGGGC	0.637000														72			9		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24394474	24394474	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:24394474C>T	uc001bin.4	-	26	3504	c.3341G>A	c.(3340-3342)tGg>tAg	p.W1114*	MYOM3_uc001bil.4_5'Flank|MYOM3_uc001bim.4_Nonsense_Mutation_p.W771*|MYOM3_uc001bio.3_Nonsense_Mutation_p.W1114*	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	1114										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TTTTCTCTTCCAGTCCCTTCT	0.527000														197			22		0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100512909	100512909	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:100512909G>A	uc011cej.2	+	5	814	c.801G>A	c.(799-801)ctG>ctA	p.L267L	MTTP_uc003hvc.4_Silent_p.L240L	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	240	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)	ATTTTGGACTGAATTTCCTAC	0.318000														26			3		0	0	1	0	0
SLC7A11	23657	broad.mit.edu	37	4	139140446	139140446	+	Nonsense_Mutation	SNP	A	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:139140446A>T	uc021xrw.1	-	4	1000	c.720T>A	c.(718-720)taT>taA	p.Y240*		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA.	240					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	ACATTCCATAATAAAAAGCCA	0.403000														80			6		0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182456	57182456	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:57182456C>T	uc003hbk.2	+	7	3179	c.2788C>T	c.(2788-2790)Cct>Tct	p.P930S	KIAA1211_uc010iha.2_Missense_Mutation_p.P923S|KIAA1211_uc011bzz.1_Missense_Mutation_p.P840S|KIAA1211_uc003hbm.1_Missense_Mutation_p.P816S	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	930	Pro-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCGCTCTGTTCCTGTGGCCCA	0.652000														34			3		0	0	1	0	0
SRPX	8406	broad.mit.edu	37	X	38019392	38019392	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:38019392T>C	uc004ddy.2	-	6	965	c.833A>G	c.(832-834)gAc>gGc	p.D278G	SRPX_uc011mki.2_Missense_Mutation_p.D278G|SRPX_uc004ddz.2_Missense_Mutation_p.D258G|SRPX_uc011mkh.2_Missense_Mutation_p.D219G	NM_006307	NP_006298	P78539	SRPX_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked (SRPX), transcript variant 1, mRNA.	278	Sushi 3.				cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						ATTATCACCGTCGCTGGAGCA	0.552000														19			7		0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36595461	36595461	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:36595461G>A	uc021qgb.1	+	0	607	c.607G>A	c.(607-609)Gag>Aag	p.E203K	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.E203K	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	203	Interaction with importin alpha-1.				T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CGTGACCATGGAGTGGCACCC	0.537000									Familial Hemophagocytic Lymphohistiocytosis					99			7		0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137363326	137363326	+	Missense_Mutation	SNP	C	T	T	rs145499856		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:137363326C>T	uc003vtt.3	-	2	584	c.583G>A	c.(583-585)Gag>Aag	p.E195K	DGKI_uc003vtu.3_5'UTR	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	195					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TGGCAGTTCTCCTCTCCAAGG	0.537000														276			23		0	0	1	0	0
ARRB1	408	broad.mit.edu	37	11	74985242	74985242	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:74985242G>A	uc001owe.2	-	10	1014	c.790C>T	c.(790-792)Ccc>Tcc	p.P264S	ARRB1_uc001owf.2_Missense_Mutation_p.P264S	NM_004041	NP_004032	P49407	ARRB1_HUMAN	Homo sapiens arrestin, beta 1 (ARRB1), transcript variant 1, mRNA.	264					G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction|positive regulation of histone acetylation|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	Golgi membrane|chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	GTPase activator activity|angiotensin receptor binding|enzyme inhibitor activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						GTCGAGCTGGGTGCCACAGTG	0.587000														201			11		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198721842	198721842	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:198721842G>A	uc001gur.1	+	30	3624	c.3444G>A	c.(3442-3444)caG>caA	p.Q1148Q	PTPRC_uc001gut.1_Silent_p.Q987Q	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	1148	Tyrosine-protein phosphatase 2.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AACTTCCCCAGAAGAATTCCT	0.433000														61			5		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167045832	167045832	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:167045832C>T	uc011bpc.2	-	10	1097	c.760G>A	c.(760-762)Gat>Aat	p.D254N	ZBBX_uc003feq.3_Missense_Mutation_p.D225N|ZBBX_uc003fep.3_Missense_Mutation_p.D254N	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	254						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GCTTCTTCATCGAATGACCCT	0.383000														136			19		0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52896297	52896297	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr18:52896297C>T	uc002lga.3	-	18	2026	c.1966G>A	c.(1966-1968)Gat>Aat	p.D656N	TCF4_uc021ukg.1_Missense_Mutation_p.D390N|TCF4_uc021ukh.1_Missense_Mutation_p.D390N|TCF4_uc002lfw.4_Missense_Mutation_p.D394N|TCF4_uc010xdu.1_Missense_Mutation_p.D420N|TCF4_uc010xdv.1_Missense_Mutation_p.D420N|TCF4_uc021uki.1_Missense_Mutation_p.D479N|TCF4_uc002lfx.2_Missense_Mutation_p.D483N|TCF4_uc010xdw.1_Missense_Mutation_p.D420N|TCF4_uc002lfy.2_Missense_Mutation_p.D508N|TCF4_uc010xdx.1_Missense_Mutation_p.D526N|TCF4_uc021ukj.1_Missense_Mutation_p.D490N|TCF4_uc021ukk.1_Missense_Mutation_p.D494N|TCF4_uc021ukl.1_Missense_Mutation_p.D547N|TCF4_uc002lfz.2_Missense_Mutation_p.D550N|TCF4_uc010dph.1_Missense_Mutation_p.D554N|TCF4_uc010dpi.3_Missense_Mutation_p.D560N|TCF4_uc010xdy.1_Missense_Mutation_p.D530N	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	550					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AGGTCCTCATCGTCATTATTG	0.507000														107			10		0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49657444	49657444	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:49657444C>T	uc002pmv.3	-	0	1238	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K		NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	351	4 X tandem repeats, acidic.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TCTTCTTCCTCGTCTCTGTGG	0.552000														89			9		0	0	1	0	0
CLEC4D	338339	broad.mit.edu	37	12	8671664	8671664	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:8671664C>T	uc001qun.3	+	3	485	c.292C>T	c.(292-294)Cct>Tct	p.P98S		NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN	Homo sapiens C-type lectin domain family 4, member D (CLEC4D), mRNA.	98	C-type lectin.				innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					CTGCTATTTTCCTCTTACTGA	0.483000														40			6		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834065	125834065	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:125834065G>A	uc001uhe.1	+	1	128	c.120G>A	c.(118-120)acG>acA	p.T40T	TMEM132B_uc021rgl.1_5'UTR	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	40						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACCTCCCCACGAACTTGCACA	0.502000														142			14		0	0	1	0	0
FMO6P	388714	broad.mit.edu	37	1	171121294	171121294	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:171121294C>T	uc001ghj.1	+	4	1536	c.644C>T	c.(643-645)cCc>cTc	p.P215L						Homo sapiens flavin containing monooxygenase 6 pseudogene (FMO6P), non-coding RNA.																		GGCATCTTCCCCCCACTAATG	0.493000														11			3		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40733281	40733281	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:40733281G>A	uc002xkg.3	-	24	3652	c.3468C>T	c.(3466-3468)ttC>ttT	p.F1156F	PTPRT_uc010ggj.3_Silent_p.F1175F|PTPRT_uc010ggi.3_Silent_p.F359F	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1156					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGAGAGAACGGAACTCACACA	0.507000														105			10		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166170429	166170429	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:166170429G>A	uc002udc.3	+	9	1484	c.1194G>A	c.(1192-1194)ggG>ggA	p.G398G	SCN2A_uc002udd.3_Silent_p.G398G|SCN2A_uc002ude.3_Silent_p.G398G	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	398					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GTGCTGCTGGGAAAACGTACA	0.353000														90			15		0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7230054	7230054	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:7230054G>A	uc002gga.1	-	3	1075	c.1068C>T	c.(1066-1068)ccC>ccT	p.P356P	GPS2_uc002ggb.1_Silent_p.P356P|GPS2_uc002ggc.1_5'UTR	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				TGTCCCGAAGGGGGCGATTGG	0.542000														49			4		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197297888	197297888	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:197297888G>A	uc001gtz.3	+	1	616	c.407G>A	c.(406-408)tGc>tAc	p.C136Y	CRB1_uc010poz.2_Missense_Mutation_p.C67Y|CRB1_uc001gty.2_Missense_Mutation_p.C136Y|CRB1_uc009wza.3_Missense_Mutation_p.C136Y|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.C136Y	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	136	EGF-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GTCTGCATCTGCCCTGCTGGA	0.498000														45			9		0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100569549	100569549	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:100569549G>A	uc003dun.3	-	13	1340	c.1255C>T	c.(1255-1257)Cca>Tca	p.P419S	ABI3BP_uc003duo.2_Missense_Mutation_p.P461S	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	419	Pro-rich.					extracellular space		p.P419Q(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GTTTTAGGTGGGATAGAATCC	0.333000														69			6		0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237553	56237553	+	Nonsense_Mutation	SNP	G	A	A	rs151336401	byFrequency	TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:56237553G>A	uc010rjk.2	-	0	462	c.421C>T	c.(421-423)Cga>Tga	p.R141*	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GTAATCAGTCGAATACAGACA	0.398000														181			13		0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97888402	97888402	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:97888402C>T	uc011bgu.2	+	0	859	c.859C>T	c.(859-861)Cct>Tct	p.P287S		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TTTGTTAAATCCTATCATCTA	0.353000														61			7		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453137	+	Missense_Mutation	DNP	AC	TT	TT	rs121913377		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:140453136_140453137AC>TT	uc003vwc.4	-	14	1859_1860	c.1798_1799GT>AA	c.(1798-1800)gtg>AAg	p.V600K		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600M(43)|p.V600D(40)|p.V600L(37)|p.V600_K601>E(30)|p.V600A(24)|p.V600G(22)|p.T599_V600insT(9)|p.A598_T599insV(7)|p.T599I(5)|p.V600Q(4)|p.T599_V600>IAL(4)|p.T599_R603>I(4)|p.T599_V600insTT(4)|p.T599_V600insDFGLAT(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAGA	0.366000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)|V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					90			8		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2224405	2224405	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:2224405G>A	uc009zdu.1	+	1	378	c.65G>A	c.(64-66)aGc>aAc	p.S22N	CACNA1C_uc001qkc.2_Missense_Mutation_p.S22N|CACNA1C_uc001qjz.2_Missense_Mutation_p.S22N|CACNA1C_uc001qkd.2_Missense_Mutation_p.S22N|CACNA1C_uc001qke.2_Missense_Mutation_p.S22N|CACNA1C_uc001qkf.2_Missense_Mutation_p.S22N|CACNA1C_uc009zdw.1_Missense_Mutation_p.S22N|CACNA1C_uc001qkg.2_Missense_Mutation_p.S22N|CACNA1C_uc001qkh.2_Missense_Mutation_p.S22N|CACNA1C_uc001qkl.2_Missense_Mutation_p.S22N|CACNA1C_uc001qkj.2_Missense_Mutation_p.S22N|CACNA1C_uc001qkk.2_Missense_Mutation_p.S22N|CACNA1C_uc001qkn.2_Missense_Mutation_p.S22N|CACNA1C_uc001qkm.2_Missense_Mutation_p.S22N|CACNA1C_uc001qko.2_Missense_Mutation_p.S22N|CACNA1C_uc001qkp.2_Missense_Mutation_p.S22N|CACNA1C_uc001qkq.2_Missense_Mutation_p.S22N|CACNA1C_uc001qku.2_Missense_Mutation_p.S22N|CACNA1C_uc001qkr.2_Missense_Mutation_p.S22N|CACNA1C_uc001qks.2_Missense_Mutation_p.S22N|CACNA1C_uc001qkt.2_Missense_Mutation_p.S22N|CACNA1C_uc009zdv.1_Missense_Mutation_p.S22N|CACNA1C_uc001qkb.2_Missense_Mutation_p.S22N	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	22					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AACTATGGGAGCCCACGCCCC	0.597000														9			4		0	0	1	0	0
GDF15	9518	broad.mit.edu	37	19	18497276	18497277	+	Splice_Site	DNP	GG	AA	AA			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:18497276_18497277GG>AA	uc002niv.2	+	1	309	c.277_splice	c.e1+1	p.V93_splice	MIR3189_uc021uqo.1_5'Flank	NM_004864	NP_004855	Q99988	GDF15_HUMAN	Homo sapiens growth differentiation factor 15 (GDF15), mRNA.	93					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						CACGCCAGAAGGTAAGTGAAAT	0.569000														31			4		0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2877690	2877690	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:2877690C>T	uc002lwp.1	+	3	821	c.734C>T	c.(733-735)tCc>tTc	p.S245F	ZNF556_uc002lwq.3_Missense_Mutation_p.S244F	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S245F(2)		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)		TGTCCCAAATCCTTTCGCGCA	0.507000														61			6		0	0	1	0	0
LOC100133308	100133308	broad.mit.edu	37	10	45602133	45602133	+	RNA	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:45602133C>T	uc001jby.3	-	0		c.1304G>A			LOC100133308_uc001jbz.3_Non-coding_Transcript|LOC100133308_uc009xmq.2_Non-coding_Transcript					Homo sapiens Ras suppressor protein 1 pseudogene (LOC100133308), non-coding RNA.																		GTAAGCTCCCCAATTTCCTTA	0.433000														22			6		0	0	1	0	0
RPS27	6232	broad.mit.edu	37	1	153963239	153963240	+	Splice_Site	DNP	CT	TA	TA			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:153963239_153963240CT>TA	uc001fdv.3	+	1	1	c.-33_splice	c.e1-1			NM_001030	NP_001021	P42677	RS27_HUMAN	Homo sapiens ribosomal protein S27 (RPS27), mRNA.						cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTTTCGCTCCTTTCCGGCGGT	0.540000														67			13		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234545667	234545667	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:234545667G>A	uc002vur.3	+	0	545	c.499G>A	c.(499-501)Gtc>Atc	p.V167I	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Missense_Mutation_p.V167I	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	170					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CCCCTCTGTGGTCTTCACCAG	0.443000														220			41		0	0	1	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142162012	142162012	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:142162012G>A	uc011krx.2	-	1	278	c.263C>T	c.(262-264)tCa>tTa	p.S88L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc022ani.1_Non-coding_Transcript|BV13S6J2.1_uc011krw.2_Missense_Mutation_p.S88L					SubName: Full=BV13S6J2.1 protein; Flags: Fragment;																		CTCTGTGGTTGATCTGGAGAC	0.512000														269			63		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179638385	179638385	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:179638385C>T	uc010pnp.2	+	16	3224	c.2706C>T	c.(2704-2706)ttC>ttT	p.F902F	TDRD5_uc021pfm.1_Silent_p.F848F|TDRD5_uc001gnf.2_Silent_p.F848F|TDRD5_uc021pfn.1_Silent_p.F902F|TDRD5_uc001gnh.2_Silent_p.F403F	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	862					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGGAAGAATTCTGTACCTCTC	0.453000														138			10		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175896841	175896841	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:175896841C>T	uc003iuc.3	+	4	835	c.165C>T	c.(163-165)atC>atT	p.I55I	ADAM29_uc003iud.3_Silent_p.I55I|ADAM29_uc010irr.3_Silent_p.I55I|ADAM29_uc011cki.2_Silent_p.I55I|ADAM29_uc021xuo.1_Silent_p.I55I	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	55					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TCTCCTATATCCTGCCCTTTG	0.512000														61			8		0	0	1	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102348516	102348516	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:102348516C>T	uc001yko.3	+	2	453	c.313C>T	c.(313-315)Cga>Tga	p.R105*	PPP2R5C_uc010txr.2_Nonsense_Mutation_p.R136*|PPP2R5C_uc001ykk.3_Nonsense_Mutation_p.R160*|PPP2R5C_uc010txt.2_Nonsense_Mutation_p.R95*|PPP2R5C_uc001ykn.3_Nonsense_Mutation_p.R105*|PPP2R5C_uc001ykp.3_Nonsense_Mutation_p.R105*|PPP2R5C_uc001ykq.3_Nonsense_Mutation_p.R3*|PPP2R5C_uc010txs.1_Nonsense_Mutation_p.R95*	NM_002719	NP_002710	Q13362	2A5G_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', gamma (PPP2R5C), transcript variant 1, mRNA.	105					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.R105*(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TAACATGTTTCGAACATTACC	0.393000														26			3		0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140435109	140435109	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:140435109G>A	uc010ncj.1	-	7	1069	c.732C>T	c.(730-732)atC>atT	p.I244I	PNPLA7_uc004cnf.2_Silent_p.I219I	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	219					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGATGTCCAGGATGCTGAGCA	0.652000														14			4		0	0	1	0	0
PILRB	29990	broad.mit.edu	37	7	99956643	99956644	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:99956643_99956644GG>AA	uc022aim.1	+	6	1467_1468	c.395_396GG>AA	c.(394-396)cgg>cAA	p.R132Q	PILRB_uc003uum.1_Non-coding_Transcript|PILRB_uc003uun.3_Missense_Mutation_p.R132Q	NM_178238	NP_839956	Q9UKJ0	PILRB_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor beta (PILRB), transcript variant 3, mRNA.	132	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGGACACCCGGAGATCAGGGA	0.599000														125			10		0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65784384	65784384	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:65784384C>T	uc001ogt.3	-	11	2458	c.2320G>A	c.(2320-2322)Gga>Aga	p.G774R		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	774					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TCCTCTTCTCCAGCCTGCAGG	0.597000														54			12		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038302	75038302	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:75038302C>T	uc001dgg.3	-	13	3311	c.3092G>A	c.(3091-3093)gGg>gAg	p.G1031E		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1031	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CATCTCTTCCCCTTCCACATC	0.498000														191			20		0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50528265	50528265	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:50528265C>T	uc001zxw.3	+	9	2067	c.1835C>T	c.(1834-1836)gCc>gTc	p.A612V	SLC27A2_uc010bes.3_Missense_Mutation_p.A559V|SLC27A2_uc001zxx.3_Missense_Mutation_p.A377V	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	612					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		ATCTATAATGCCATAAGTGCT	0.408000														132			13		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103276702	103276702	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:103276702G>A	uc022ajr.1	-	17	2443	c.2283C>T	c.(2281-2283)ttC>ttT	p.F761F	RELN_uc022ajq.1_Silent_p.F761F|RELN_uc010liz.3_Silent_p.F761F	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	761					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCTGTCAAGGAAAGATGTAA	0.428000														35			6		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24813448	24813448	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:24813448C>T	uc001iru.4	+	12	3056	c.2653C>T	c.(2653-2655)Cgc>Tgc	p.R885C	KIAA1217_uc001irs.3_Missense_Mutation_p.R805C|KIAA1217_uc001irt.4_Missense_Mutation_p.R850C|KIAA1217_uc010qcy.2_Missense_Mutation_p.R850C|KIAA1217_uc010qcz.2_Missense_Mutation_p.R850C|KIAA1217_uc001irv.1_Missense_Mutation_p.R700C|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.3_Missense_Mutation_p.R568C|KIAA1217_uc001irz.3_Missense_Mutation_p.R568C|KIAA1217_uc001irx.3_Missense_Mutation_p.R568C|KIAA1217_uc001iry.3_Missense_Mutation_p.R568C	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	885					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						CATGATGGTTCGCCACGCGCA	0.662000														75			9		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585754	7585755	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:7585754_7585755GG>AA	uc003mxp.1	+	23	8538_8539	c.8259_8260GG>AA	c.(8257-8262)aagggg>aaAAgg	p.G2754R	DSP_uc003mxq.1_Missense_Mutation_p.G2155R|DSP_uc021yle.1_Missense_Mutation_p.G2311R	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2754	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCATCCGGAAGGGGTTCATAGA	0.540000														190			22		0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158549606	158549606	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:158549606G>A	uc010pin.2	-	0	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E27K(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CAACAAGAATGAATTCCTTCA	0.363000														129			41		0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100552960	100552960	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:100552960C>T	uc003uxl.1	+	1	2105	c.1305C>T	c.(1303-1305)ctC>ctT	p.L435L	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GCTGTCAGCTCCAGACCAGAT	0.562000														146			8		0	0	1	0	0
YPEL3	83719	broad.mit.edu	37	16	30106448	30106448	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:30106448C>T	uc002dwl.3	-	1	969	c.251G>A	c.(250-252)gGg>gAg	p.G84E	BOLA2_uc010bzb.1_Intron|YPEL3_uc002dwm.3_Missense_Mutation_p.G46E|YPEL3_uc002dwn.1_Missense_Mutation_p.G84E|AK097453_uc002dwo.2_5'Flank	NM_031477	NP_001138996	P61236	YPEL3_HUMAN	Homo sapiens yippee-like 3 (Drosophila) (YPEL3), transcript variant 1, mRNA.	46						nucleolus				endometrium(1)|lung(2)	3						GTAGGCACGCCCCTGACTGCC	0.607000														35			8		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641366	179641366	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179641366C>T	uc021vsy.1	-	27	5450	c.5225G>A	c.(5224-5226)gGa>gAa	p.G1742E	TTN_uc021vsz.1_Missense_Mutation_p.G1696E|TTN_uc021vta.1_Missense_Mutation_p.G1696E|TTN_uc021vtb.1_Missense_Mutation_p.G1696E|TTN_uc002unb.2_Missense_Mutation_p.G1742E|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1742	Ig-like 8.						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)			AAGTGGCTTTCCATCATGGAG	0.488000														82			17		0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	8991804	8991804	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:8991804C>T	uc001quz.4	+	9	1164	c.1066C>T	c.(1066-1068)Ccc>Tcc	p.P356S		NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	200						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						TCCAAATTTCCCCTTCAGTGG	0.418000														49			6		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087443	92087443	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:92087443G>A	uc001pdj.4	+	0	2182	c.2165G>A	c.(2164-2166)gGa>gAa	p.G722E		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	722					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)				AATAGACAGGGACCATATTTT	0.398000										TCGA Ovarian(4;0.039)				207			10		0	0	1	0	0
ACCSL	390110	broad.mit.edu	37	11	44074232	44074232	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:44074232C>T	uc001mxw.1	+	5	849	c.793C>T	c.(793-795)Ccc>Tcc	p.P265S	ACCSL_uc009ykr.2_Missense_Mutation_p.P84S	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like (ACCSL), mRNA.	265							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						GGTCCCTGCTCCCTTCTATGG	0.547000														270			11		0	0	1	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30950970	30950970	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:30950970C>T	uc003aig.1	-	3	1382	c.1242G>A	c.(1240-1242)tgG>tgA	p.W414*	GAL3ST1_uc003aih.1_Nonsense_Mutation_p.W414*|GAL3ST1_uc003aii.1_Nonsense_Mutation_p.W414*|GAL3ST1_uc010gvz.1_Nonsense_Mutation_p.W414*	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	414					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GAATGAACTTCCAGAGCTTGG	0.677000														51			6		0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756607	94756607	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:94756607G>A	uc001yct.3	-	1	790	c.324C>T	c.(322-324)gcC>gcT	p.A108A	SERPINA10_uc001ycu.4_Silent_p.A108A	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	108					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AGCCTGTCATGGCCAAGGACA	0.577000														66			4		0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830657	7830657	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:7830657G>A	uc010dvt.3	+	3	466	c.348G>A	c.(346-348)ctG>ctA	p.L116L	CLEC4M_uc010xjv.1_Silent_p.L88L|CLEC4M_uc002mhy.2_Silent_p.L60L|CLEC4M_uc002mih.3_Silent_p.L116L|CLEC4M_uc010xjw.2_Silent_p.L95L|CLEC4M_uc010dvs.3_Silent_p.L115L|CLEC4M_uc010xjx.2_Silent_p.L88L|CLEC4M_uc002mhz.3_Silent_p.L116L|CLEC4M_uc002mic.3_Silent_p.L88L|CLEC4M_uc002mia.3_Silent_p.L95L	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	116	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						ACCAGGAGCTGACCCAGCTGA	0.557000														162			28		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45462086	45462086	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:45462086G>A	uc003jok.3	-	2	898	c.873C>T	c.(871-873)ctC>ctT	p.L291L		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	291						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.D290N(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGCACTGGCGAGATCATATG	0.378000														38			9		0	0	1	0	0
KLHDC4	54758	broad.mit.edu	37	16	87790031	87790031	+	Nonsense_Mutation	SNP	C	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:87790031C>A	uc002fki.3	-	2	346	c.244G>T	c.(244-246)Gga>Tga	p.G82*	KLHDC4_uc002fkj.3_Nonsense_Mutation_p.G82*|KLHDC4_uc002fkl.3_Intron|KLHDC4_uc010chu.1_5'UTR	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN	Homo sapiens kelch domain containing 4 (KLHDC4), transcript variant 1, mRNA.	82										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TATTCACCTCCAAAAAGGATT	0.408000														41			4		0.00909568	0.00913366	1	1	0
PTPRT	11122	broad.mit.edu	37	20	40735440	40735440	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:40735440G>A	uc002xkg.3	-	23	3560	c.3376C>T	c.(3376-3378)Ctg>Ttg	p.L1126L	PTPRT_uc010ggj.3_Silent_p.L1145L|PTPRT_uc010ggi.3_Silent_p.L329L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1126	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTCTGTACCAGGTTGACCCTT	0.542000														144			12		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96480225	96480225	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:96480225G>T	uc001kjv.4	+	5	1218	c.892G>T	c.(892-894)Gga>Tga	p.G298*	CYP2C19_uc001kjw.4_Nonsense_Mutation_p.G239*|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	298					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GTTTGGGGCTGGAACAGAGAC	0.408000														74			5		0.000602214	0.00060684	1	1	0
MAP3K5	4217	broad.mit.edu	37	6	136913734	136913734	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:136913734G>A	uc003qhc.3	-	21	3258	c.2897C>T	c.(2896-2898)tCc>tTc	p.S966F	MAP3K5_uc011edj.2_Missense_Mutation_p.S213F|MAP3K5_uc011edk.1_Missense_Mutation_p.S812F	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	966					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TACCGGCAAGGATATACTCCT	0.463000														82			5		0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62855899	62855899	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:62855899G>A	uc002jey.2	-	10	4981	c.4365C>T	c.(4363-4365)tcC>tcT	p.S1455S	LRRC37A3_uc010wqg.1_Silent_p.S573S|LRRC37A3_uc002jex.1_Silent_p.S432S|LRRC37A3_uc010wqf.1_Silent_p.S493S|LRRC37A3_uc010dek.1_Silent_p.S461S|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1455						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGGGCTCGGGGGACAGGTCAG	0.502000														178			16		0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66992073	66992073	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:66992073G>A	uc002jhu.3	-	25	3661	c.3518C>T	c.(3517-3519)cCc>cTc	p.P1173L	ABCA9_uc010dez.3_Missense_Mutation_p.P1135L	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1173					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CAATGTGAAGGGAGGTATTAA	0.383000														81			5		0	0	1	0	0
NFIA	4774	broad.mit.edu	37	1	61818176	61818176	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:61818176C>T	uc010oos.2	+	5	972	c.890C>T	c.(889-891)tCt>tTt	p.S297F	NFIA_uc001czy.3_Missense_Mutation_p.S244F|NFIA_uc001czw.3_Missense_Mutation_p.S252F|NFIA_uc001czv.3_Missense_Mutation_p.S252F	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN	Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.	252					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						TTGGAAAGTTCTTCATACTAC	0.388000														59			4		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049684	107049684	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:107049684C>T	uc010ywi.1	-	15	2320	c.2263G>A	c.(2263-2265)Gaa>Aaa	p.E755K		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	755					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTATAGTTTTCGAGTTCCTGC	0.368000														388			22		0	0	1	0	0
ENDOD1	23052	broad.mit.edu	37	11	94861676	94861676	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:94861676C>T	uc001pfh.3	+	1	554	c.436C>T	c.(436-438)Cca>Tca	p.P146S		NM_015036	NP_055851	O94919	ENDD1_HUMAN	Homo sapiens endonuclease domain containing 1 (ENDOD1), mRNA.	146						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				ACAGCTTTACCCATTCTCCCT	0.478000														100			6		0	0	1	0	0
P2RY14	9934	broad.mit.edu	37	3	150931472	150931472	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:150931472C>T	uc003eyr.1	-	2	1111	c.633G>A	c.(631-633)aaG>aaA	p.K211K	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY14_uc003eys.1_Silent_p.K211K|P2RY14_uc021xfz.1_Silent_p.K211K	NM_001081455	NP_055694	Q15391	P2Y14_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 14 (P2RY14), transcript variant 1, mRNA.	211						integral to membrane|plasma membrane	UDP-activated nucleotide receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAAAGATTTTCTTTGTGATAG	0.393000														133			14		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9010979	9010979	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:9010979G>A	uc002mkp.3	-	36	39143	c.38939C>T	c.(38938-38940)cCc>cTc	p.P12980L	MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12982					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTGCTGGTGGGGGCCACAGA	0.517000														148			6		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149226716	149226716	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:149226716C>T	uc002twm.4	+	8	2201	c.1204C>T	c.(1204-1206)Cct>Tct	p.P402S	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	402	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TGCTGTTGTTCCTTTGCCAAG	0.433000														187			40		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89925212	89925212	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:89925212G>A	uc003kju.3	+	8	1791	c.1695G>A	c.(1693-1695)gtG>gtA	p.V565V	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	565					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTGGAGCTGTGGACCCCTTGC	0.388000														54			8		0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55027271	55027271	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:55027271C>T	uc002xxp.2	+	5	1264	c.1039C>T	c.(1039-1041)Ccc>Tcc	p.P347S	CASS4_uc002xxq.4_Missense_Mutation_p.P347S|CASS4_uc010zze.1_Missense_Mutation_p.P293S|CASS4_uc002xxr.2_Missense_Mutation_p.P347S|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	347					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GAACACCAAGCCCAATATTTA	0.488000														77			12		0	0	1	0	0
SLC29A3	55315	broad.mit.edu	37	10	73122116	73122116	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:73122116C>T	uc001jrr.4	+	5	1236	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	SLC29A3_uc001jrs.4_3'UTR|SLC29A3_uc010qjq.2_Silent_p.F247F|SLC29A3_uc001jrt.4_Silent_p.F187F	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3), transcript variant 1, mRNA.	393					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						TCCCCCTCTTCGTGCTCTGTA	0.642000														137			7		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131949431	131949431	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:131949431G>A	uc003ytd.4	-	4	1625	c.1369C>T	c.(1369-1371)Cgt>Tgt	p.R457C	ADCY8_uc010mds.3_Missense_Mutation_p.R457C	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	457					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	p.R457S(2)		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)			ATTTTAATACGAAGGCAGTGA	0.522000										HNSCC(32;0.087)				66			4		0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72983961	72983961	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:72983961C>T	uc003xza.3	-	1	428	c.253G>A	c.(253-255)Gat>Aat	p.D85N		NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	85						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AAAGAGGAATCTCTGGTGATC	0.353000														59			8		0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101323733	101323733	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:101323733C>T	uc001pgk.4	-	12	3174	c.2749G>A	c.(2749-2751)Gga>Aga	p.G917R	TRPC6_uc009ywy.3_Missense_Mutation_p.G801R	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	917					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AATTTCTCTCCAAGTTCTCTA	0.358000														84			6		0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48690437	48690437	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:48690437C>T	uc001crn.2	+	1	256	c.204C>T	c.(202-204)ttC>ttT	p.F68F	SLC5A9_uc010oms.1_Non-coding_Transcript|SLC5A9_uc001cro.2_Silent_p.F68F|SLC5A9_uc010omt.1_Silent_p.F61F|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA.	68						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GCGGCTATTTCCTGGCCGGGA	0.552000														85			12		0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71849418	71849418	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:71849418C>T	uc004ahe.3	+	11	2053	c.1735C>T	c.(1735-1737)Cct>Tct	p.P579S	TJP2_uc011lrs.2_Missense_Mutation_p.P556S|TJP2_uc011lrt.1_Missense_Mutation_p.P556S|TJP2_uc004ahd.3_Missense_Mutation_p.P579S|TJP2_uc004ahf.3_Missense_Mutation_p.P579S|TJP2_uc011lru.2_Missense_Mutation_p.P583S|TJP2_uc011lrv.2_Missense_Mutation_p.P610S	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	Homo sapiens tight junction protein 2 (zona occludens 2) (TJP2), transcript variant 1, mRNA.	579	PDZ 3.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GTTAGAAATCCCTAAAGGTGA	0.443000														55			5		0	0	1	0	0
TMEM100	55273	broad.mit.edu	37	17	53798202	53798202	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:53798202C>T	uc002iuj.4	-	1	541	c.230G>A	c.(229-231)aGc>aAc	p.S77N	TMEM100_uc002iuk.4_Missense_Mutation_p.S77N|TMEM100_uc021uai.1_Missense_Mutation_p.S77N	NM_018286	NP_060756	Q9NV29	TM100_HUMAN	Homo sapiens transmembrane protein 100 (TMEM100), transcript variant 2, mRNA.	77						integral to membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						GGAATTGAAGCTGTAAGCCAC	0.532000														144			8		0	0	1	0	0
COG3	83548	broad.mit.edu	37	13	46060684	46060684	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr13:46060684T>A	uc001vak.3	+	7	1040	c.898T>A	c.(898-900)Ttt>Att	p.F300I	COG3_uc010tfu.2_Non-coding_Transcript|COG3_uc001vai.3_Missense_Mutation_p.F300I|COG3_uc010tfv.2_Missense_Mutation_p.F137I|COG3_uc010aci.3_Missense_Mutation_p.F76I	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	Homo sapiens component of oligomeric golgi complex 3 (COG3), mRNA.	300					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi cisterna membrane|Golgi transport complex|cis-Golgi network	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		TTATGTGAAATTTCGAGCTGC	0.383000														105			8		0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	73012773	73012773	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:73012773C>T	uc003hgg.2	+	3	911	c.813C>T	c.(811-813)gtC>gtT	p.V271V	NPFFR2_uc010iig.2_Silent_p.V53V|NPFFR2_uc003hgi.2_Silent_p.V172V|NPFFR2_uc003hgh.2_Silent_p.V169V	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	271					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TCATCTGGGTCCTAGCCATCA	0.393000														260			10		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108348467	108348467	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:108348467C>T	uc003ymn.3	-	2	954	c.486G>A	c.(484-486)caG>caA	p.Q162Q	ANGPT1_uc011lhv.2_5'UTR|ANGPT1_uc003ymo.3_Silent_p.Q162Q	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	162					Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TCTCCAGCAGCTGTATCTCAA	0.328000														30			15		0	0	1	0	0
CLEC4C	170482	broad.mit.edu	37	12	7883508	7883508	+	Splice_Site	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:7883508C>T	uc001qtg.1	-	5	556	c.382_splice	c.e5-1	p.D128_splice	CLEC4C_uc001qth.1_Splice_Site_p.D128_splice|CLEC4C_uc001qti.1_Splice_Site_p.D97_splice	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN	Homo sapiens C-type lectin domain family 4, member C (CLEC4C), transcript variant 1, mRNA.	128	C-type lectin.				innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		ATGATGAAATCCTGAGGGAAG	0.478000														44			6		0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1621509	1621509	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:1621509G>A	uc002cmb.3	-	13	1913	c.1551C>T	c.(1549-1551)ttC>ttT	p.F517F	IFT140_uc002clz.3_Silent_p.F168F	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	517										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CAGTCTCCGAGAAAAGGAGGA	0.428000														77			14		0	0	1	0	0
ANP32C	23520	broad.mit.edu	37	4	165118426	165118426	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:165118426C>T	uc011cjk.2	-	0	438	c.438G>A	c.(436-438)tgG>tgA	p.W146*	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	146										NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		CCTTGTGGTCCCAGTAACAGC	0.512000														108			14		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59221466	59221466	+	Silent	SNP	A	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr18:59221466A>G	uc010dps.1	+	10	2096	c.1944A>G	c.(1942-1944)caA>caG	p.Q648Q	CDH20_uc002lif.2_Silent_p.Q642Q	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	648					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACCGGAAACAACCATACATCA	0.572000														120			7		0	0	1	0	0
TMEM57	55219	broad.mit.edu	37	1	25784985	25784985	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:25784985C>T	uc001bkk.3	+	5	958	c.756C>T	c.(754-756)taC>taT	p.Y252Y	TMEM57_uc009vru.3_Intron|TMEM57_uc009vrv.3_Intron|TMEM57_uc009vrt.2_Non-coding_Transcript	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	Homo sapiens transmembrane protein 57 (TMEM57), mRNA.	252						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AGATAGAATACCGAGAAAAAG	0.378000														115			11		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	140128	140128	+	RNA	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrGL000192.1:140128G>A	uc010yih.1	-	17		c.3477C>T						Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.											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)				CCTGCATCAGGGATACAGTGA	0.567000														33			3		0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49738103	49738103	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:49738103G>A	uc003cxh.3	+	14	1324	c.1238G>A	c.(1237-1239)aGg>aAg	p.R413K	RNF123_uc010hky.1_Missense_Mutation_p.R75K|RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	413						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCCATCCTGAGGCATGAGAAG	0.607000														129			13		0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120365844	120365844	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:120365844C>T	uc003edw.3	-	7	985	c.525G>A	c.(523-525)caG>caA	p.Q175Q	HGD_uc003edv.3_Silent_p.Q34Q	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	175					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TCTCATTGGGCTGTACAAGCA	0.473000														96			10		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860003	16860003	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:16860003G>A	uc002neu.4	+	5	972	c.550G>A	c.(550-552)Gga>Aga	p.G184R	NWD1_uc002net.4_Missense_Mutation_p.G49R|NWD1_uc002nev.4_5'UTR|NWD1_uc021uqg.1_Missense_Mutation_p.G49R	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	184							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						CCGGGAACAGGGAGCCACCGT	0.572000														84			19		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431764	140431764	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:140431764G>A	uc003lik.1	+	0	786	c.709G>A	c.(709-711)Gac>Aac	p.D237N		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	237	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D237N(2)|p.N236N(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGATGTCAACGACCACGTGCC	0.597000														47			4		0	0	1	0	0
ELMO2	63916	broad.mit.edu	37	20	45017819	45017819	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:45017819G>A	uc010zxr.1	-	6	494	c.284C>T	c.(283-285)tCc>tTc	p.S95F	ELMO2_uc002xrt.1_Missense_Mutation_p.S95F|ELMO2_uc002xru.1_Missense_Mutation_p.S95F|ELMO2_uc010zxs.1_5'UTR|ELMO2_uc002xrw.3_5'Flank|ELMO2_uc002xrx.1_Missense_Mutation_p.S95F	NM_182764	NP_877496	Q96JJ3	ELMO2_HUMAN	Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant 2, mRNA.	95					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	SH3 domain binding|lyase activity|receptor tyrosine kinase binding	p.S95P(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				CTCCATGTTGGATGACTGGGT	0.562000														114			15		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7661946	7661946	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:7661946G>A	uc002giu.1	+	12	2199	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	729	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTTCATCACGGAGTGCCGTAT	0.522000														76			8		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166924569	166924569	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:166924569G>A	uc003irh.2	+	5	1306	c.659G>A	c.(658-660)gGa>gAa	p.G220E	TLL1_uc021xud.1_Missense_Mutation_p.G220E|TLL1_uc011cjn.2_Missense_Mutation_p.G220E|TLL1_uc011cjo.2_Missense_Mutation_p.G44E	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	220	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GGTCGGCGAGGAAATGGACCT	0.438000														84			7		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900950	51900950	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:51900950G>A	uc002iua.2	+	0	712	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	186					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCCCAACTACGAAATCATGCA	0.567000														100			11		0	0	1	0	0
RBM22	55696	broad.mit.edu	37	5	150071405	150071405	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:150071405G>A	uc003lst.3	-	10	1293	c.1171C>T	c.(1171-1173)Cct>Tct	p.P391S		NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	Homo sapiens RNA binding motif protein 22 (RBM22), mRNA.	391	Pro-rich.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	RNA binding|calcium-dependent protein binding|nucleotide binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGAAAGGAGGGGGTGGTCCC	0.522000														103			6		0	0	1	0	0
LOC442459	442459	broad.mit.edu	37	X	98974843	98974843	+	RNA	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:98974843C>T	uc011mrd.1	-	7		c.1500G>A								Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA.																		TTCCTTTTATCATCAGCAAAG	0.448000														35			11		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15917242	15917242	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:15917242C>T	uc002ddx.3	-	2	479	c.372G>A	c.(370-372)gtG>gtA	p.V124V	MYH11_uc002ddv.3_Silent_p.V124V|MYH11_uc002ddw.3_Silent_p.V124V|MYH11_uc002ddy.3_Silent_p.V124V|MYH11_uc010bvg.3_5'UTR|MYH11_uc002deb.3_Silent_p.V124V	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	124	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AGGGGTTGACCACCACGCAGA	0.532000			T	CBFB	AML									122			14		0	0	1	0	0
ANKZF1	55139	broad.mit.edu	37	2	220098053	220098053	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:220098053G>A	uc002vkg.3	+	6	891	c.717G>A	c.(715-717)cgG>cgA	p.R239R	ANKZF1_uc010zkv.1_Silent_p.R183R|ANKZF1_uc010zkw.1_Silent_p.R29R|ANKZF1_uc002vkh.3_Silent_p.R29R|ANKZF1_uc002vki.3_Silent_p.R239R|ANKZF1_uc002vkj.1_Silent_p.R227R	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	Homo sapiens ankyrin repeat and zinc finger domain containing 1 (ANKZF1), transcript variant 1, mRNA.	239						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATACGGTTCGGGCCAAGCGGG	0.567000														129			11		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193232635	193232635	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:193232635C>T	uc003ftd.3	-	1	194	c.86G>A	c.(85-87)gGc>gAc	p.G29D	ATP13A4_uc003fte.1_Missense_Mutation_p.G29D|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	29					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTTCCGGCAGCCTTGAGTCCG	0.423000														103			13		0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42477964	42477964	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:42477964C>T	uc002igw.2	-	7	1700	c.1481G>A	c.(1480-1482)aGt>aAt	p.S494N	GPATCH8_uc002igv.2_Missense_Mutation_p.S416N|GPATCH8_uc010wiz.2_Missense_Mutation_p.S416N	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	494						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ACTTTCTAAACTCTGATCACT	0.498000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		167			10		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169632733	169632733	+	Splice_Site	SNP	C	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:169632733C>A	uc011cjx.2	+	10	1833	c.1622_splice	c.e10-1	p.A541_splice	PALLD_uc003iru.3_Splice_Site_p.A541_splice|PALLD_uc003irv.3_Splice_Site_p.A159_splice	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	541					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CTTCCTTAGCCAACACTGAAA	0.448000									Pancreatic Cancer, Familial Clustering of					66			5		0.014758	0.0147887	1	1	0
RPH3A	22895	broad.mit.edu	37	12	113327843	113327843	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:113327843G>A	uc010syl.2	+	17	1940	c.1578G>A	c.(1576-1578)ggG>ggA	p.G526G	RPH3A_uc001ttz.3_Silent_p.G526G|RPH3A_uc001tty.3_Silent_p.G522G|RPH3A_uc009zwe.1_Silent_p.G522G|RPH3A_uc010sym.2_Silent_p.G477G|RPH3A_uc001tua.3_Silent_p.G286G	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	526					intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AACGTGCTGGGACCACCGGGT	0.493000														258			11		0	0	1	0	0
ZNF586	54807	broad.mit.edu	37	19	58290786	58290786	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:58290786C>T	uc002qqd.3	+	2	1022	c.831C>T	c.(829-831)ctC>ctT	p.L277L	ZNF587_uc002qqb.2_Intron|ZNF586_uc010euh.3_Silent_p.L234L|ZNF586_uc002qqe.3_3'UTR|ZNF586_uc002qqf.2_Intron	NM_017652	NP_001191743	Q9NXT0	ZN586_HUMAN	Homo sapiens zinc finger protein 586 (ZNF586), transcript variant 1, mRNA.	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCTCTTCACTCTTGCAGCATC	0.433000														89			9		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70319483	70319483	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:70319483G>A	uc001oqc.3	-	21	4955	c.4843C>T	c.(4843-4845)Cgc>Tgc	p.R1615C	SHANK2_uc010rqn.2_Missense_Mutation_p.R1091C|SHANK2_uc001opz.3_Missense_Mutation_p.R1086C|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Missense_Mutation_p.R17C|SHANK2_uc021qmr.1_Non-coding_Transcript	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1302					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTGCCGGGGCGAACAGTGAAG	0.602000														58			7		0	0	1	0	0
ANKIB1	54467	broad.mit.edu	37	7	92019357	92019357	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:92019357T>C	uc003ulw.2	+	14	2355	c.1979T>C	c.(1978-1980)cTc>cCc	p.L660P	ANKIB1_uc010lew.1_5'UTR	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	Homo sapiens ankyrin repeat and IBR domain containing 1 (ANKIB1), mRNA.	660							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CGGCGCATTCTCAAGTGTTCT	0.333000														96			12		0	0	1	0	0
OR7D2	162998	broad.mit.edu	37	19	9296799	9296799	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:9296799C>T	uc002mkz.1	+	0	530	c.342C>T	c.(340-342)ctC>ctT	p.L114L		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	114					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						ACACGCTACTCCTGACCGTGA	0.507000														200			26		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834071	61834071	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:61834071C>T	uc001jky.3	-	36	6906	c.6568G>A	c.(6568-6570)Gag>Aag	p.E2190K	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.	2190					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						GACACAGGCTCCTCTGGTTGG	0.448000														158			8		0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27301860	27301860	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:27301860G>A	uc009xku.1	-	31	5076	c.4904C>T	c.(4903-4905)aCc>aTc	p.T1635I	ANKRD26_uc001itg.2_Missense_Mutation_p.T1321I|ANKRD26_uc001ith.2_Missense_Mutation_p.T1634I	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	1634						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGGATTTGAGGTAGAGATCAC	0.373000														88			5		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55196536	55196536	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:55196536G>A	uc003pcm.1	+	1	132	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	16						integral to membrane	receptor activity	p.E16Q(2)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTTGGAAAATGAATACACTTC	0.333000														44			5		0	0	1	0	0
SHISA3	152573	broad.mit.edu	37	4	42403052	42403052	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:42403052A>C	uc003gwp.3	+	1	519	c.301A>C	c.(301-303)Atc>Ctc	p.I101L		NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN	Homo sapiens shisa homolog 3 (Xenopus laevis) (SHISA3), mRNA.	101					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						CCCCTTTCTCATCGTCGGCTC	0.498000														151			19		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94051253	94051253	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:94051253C>T	uc003ung.1	+	38	2863	c.2392C>T	c.(2392-2394)Cca>Tca	p.P798S	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	798			Missing (in OI2A).|P -> PP (in OI2A).		Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GACTGGTCCCCCAGGACCCTC	0.453000										HNSCC(75;0.22)				55			5		0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14536371	14536371	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:14536371G>A	uc021wtn.1	-	24	3238	c.3238C>T	c.(3238-3240)Ccc>Tcc	p.P1080S	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	984					synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CTGTCGAAGGGCTGGAGGCCT	0.597000														26			3		0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2843503	2843503	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:2843503C>T	uc002whe.3	+	12	1302	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	PTPRA_uc002whj.3_5'Flank|VPS16_uc002whf.3_Intron|VPS16_uc002whg.3_Silent_p.F104F	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	418					intracellular protein transport	HOPS complex|early endosome|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CCGACAGCTTCGTGCACATGT	0.582000														156			20		0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43305569	43305569	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:43305569G>A	uc003oux.3	-	9	6245	c.6167C>T	c.(6166-6168)tCc>tTc	p.S2056F	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	2056					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGGATCGGAGGAATTACACCC	0.463000														80			8		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53837584	53837584	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:53837584C>T	uc003dgv.4	+	43	5733	c.5570C>T	c.(5569-5571)tCg>tTg	p.S1857L	CACNA1D_uc003dgu.4_Missense_Mutation_p.S1877L|CACNA1D_uc003dgy.4_Missense_Mutation_p.S1833L|CACNA1D_uc003dgw.4_Missense_Mutation_p.S1524L|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1857					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GATGACAGCTCGCCCACCTGG	0.642000														166			17		0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018393	161018393	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:161018393C>T	uc001fxl.3	-	11	2764	c.2418G>A	c.(2416-2418)ggG>ggA	p.G806G	USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Intron|ARHGAP30_uc001fxm.3_Silent_p.G652G|ARHGAP30_uc009wtx.3_Silent_p.G479G	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	806	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CTTCATGGTACCCCTTCTCCC	0.522000														193			41		0	0	1	0	0
KIAA0146	23514	broad.mit.edu	37	8	48508471	48508471	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:48508471A>G	uc003xqd.3	+	8	1258	c.1196A>G	c.(1195-1197)gAa>gGa	p.E399G	KIAA0146_uc011lcz.2_Non-coding_Transcript|KIAA0146_uc011lda.2_Missense_Mutation_p.E88G|KIAA0146_uc011ldb.2_Missense_Mutation_p.E399G|KIAA0146_uc010lxs.3_Intron|KIAA0146_uc011ldc.2_Missense_Mutation_p.E329G|KIAA0146_uc011ldd.2_Missense_Mutation_p.E339G|KIAA0146_uc003xqe.3_5'UTR|KIAA0146_uc003xqf.3_Non-coding_Transcript|KIAA0146_uc011lde.1_Missense_Mutation_p.E88G|KIAA0146_uc010lxt.3_Missense_Mutation_p.E88G	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	Homo sapiens KIAA0146 (KIAA0146), mRNA.	399										central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Lung NSC(58;0.175)				AAAACTTGTGAAGTGTACTGT	0.383000														58			12		0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33469010	33469010	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:33469010C>T	uc001iwx.4	-	16	3289	c.2766G>A	c.(2764-2766)gaG>gaA	p.E922E	NRP1_uc001iwv.4_Silent_p.E905E|NRP1_uc001iwy.4_Silent_p.E915E|NRP1_uc009xlz.3_Silent_p.E916E|NRP1_uc001iww.4_Silent_p.E734E	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	922					axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GCCTTCATGCCTCCGAATAAG	0.448000														235			21		0	0	1	0	0
ONECUT2	9480	broad.mit.edu	37	18	55143778	55143779	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr18:55143778_55143779GG>AA	uc002lgo.3	+	1	1370_1371	c.1338_1339GG>AA	c.(1336-1341)aaggag>aaAAag	p.E447K		NM_004852	NP_004843	O95948	ONEC2_HUMAN	Homo sapiens one cut homeobox 2 (ONECUT2), mRNA.	447					organ morphogenesis	nucleus	sequence-specific DNA binding	p.K446E(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CCATCTTCAAGGAGAACAAACG	0.545000														82			7		0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18192212	18192212	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:18192212G>A	uc004cyj.4	-	11	2073	c.1919C>T	c.(1918-1920)gCt>gTt	p.A640V	BEND2_uc010nfb.2_Missense_Mutation_p.A549V	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	640								p.A640P(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TTCAGGGATAGCATTACTGTT	0.408000														27			5		0	0	1	0	0
SLC24A1	9187	broad.mit.edu	37	15	65917776	65917776	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:65917776G>A	uc010ujf.2	+	1	1645	c.1358G>A	c.(1357-1359)gGc>gAc	p.G453D	SLC24A1_uc010ujd.1_Missense_Mutation_p.G453D|SLC24A1_uc010uje.1_Missense_Mutation_p.G453D|SLC24A1_uc010ujg.2_Missense_Mutation_p.G453D|SLC24A1_uc010ujh.2_Missense_Mutation_p.G453D	NM_004727	NP_004718	O60721	NCKX1_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA.	453					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CGGCGGCAGGGCTGGGTGGTC	0.587000														138			22		0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283663	33283663	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:33283663G>A	uc003oeb.3	-	1	1183	c.1031C>T	c.(1030-1032)tCc>tTc	p.S344F	TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Missense_Mutation_p.S344F|ZBTB22_uc021ywm.1_Missense_Mutation_p.S344F	NM_005453	NP_005444	O15209	ZBT22_HUMAN	Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						TGGAACCCTGGAGCTACCCCC	0.582000														124			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9014191	9014191	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:9014191C>T	uc002mkp.3	-	31	38661	c.38457G>A	c.(38455-38457)caG>caA	p.Q12819Q	MUC16_uc021uog.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12821				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCGCAGAGGTCTGATGGGTGA	0.532000														64			18		0	0	1	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79768610	79768611	+	Missense_Mutation	DNP	CC	TA	TA	rs139589180	byFrequency	TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:79768610_79768611CC>TA	uc003kgr.4	+	15	4357_4358	c.4055_4056CC>TA	c.(4054-4056)acc>aTA	p.T1352I	ZFYVE16_uc003kgq.4_Missense_Mutation_p.T1352I|ZFYVE16_uc003kgs.4_Missense_Mutation_p.T1352I|ZFYVE16_uc003kgt.4_Missense_Mutation_p.T440I|ZFYVE16_uc003kgu.4_Missense_Mutation_p.T104I	NM_001105251	NP_055548	Q7Z3T8	ZFY16_HUMAN	Homo sapiens zinc finger, FYVE domain containing 16 (ZFYVE16), transcript variant 2, mRNA.	1352					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		ACTCCAGAGACCATGAATGGCT	0.371000														68			6		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105167252	105167252	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:105167252G>A	uc004emd.3	+	17	3056	c.2753G>A	c.(2752-2754)gGt>gAt	p.G918D	NRK_uc010npc.1_Missense_Mutation_p.G586D	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	918	Asp-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GAAGAGGATGGTGATTATGTT	0.423000										HNSCC(51;0.14)				34			9		0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113176671	113176671	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr13:113176671G>A	uc001vse.1	-	13	1895	c.1708C>T	c.(1708-1710)Caa>Taa	p.Q570*	TUBGCP3_uc010tjq.1_Nonsense_Mutation_p.Q560*|TUBGCP3_uc001vsf.3_Nonsense_Mutation_p.Q570*	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	570					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					AAGTCTCCTTGACCAAGAAGC	0.368000														73			5		0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380886	56380886	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:56380886G>A	uc001nja.1	-	0	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AGATCGCAAGGAATACCCCAA	0.483000														124			10		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79173673	79173673	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:79173673G>A	uc003hlb.2	+	4	877	c.437G>A	c.(436-438)gGa>gAa	p.G146E	FRAS1_uc003hkw.3_Missense_Mutation_p.G146E|FRAS1_uc003hky.1_5'UTR|FRAS1_uc003hkz.3_5'Flank	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	146	VWFC 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATCCCTGAAGGAAGCTGCTGC	0.562000														56			4		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416176	105416176	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:105416176A>T	uc010axc.1	-	6	5732	c.5612T>A	c.(5611-5613)cTc>cAc	p.L1871H	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.L1771H	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1871						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)			CGGAATGCAGAGGTCCGTGGT	0.662000														335			45		0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25269070	25269070	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:25269070G>A	uc002wup.3	+	14	1887	c.1778G>A	c.(1777-1779)aGa>aAa	p.R593K	BC128043_uc010gdm.1_Missense_Mutation_p.S47F	NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	593					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GGAATCAAGAGAGACCCGGCC	0.602000														120			11		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193210711	193210711	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:193210711C>T	uc003ftd.3	-	4	636	c.528G>A	c.(526-528)gaG>gaA	p.E176E	ATP13A4_uc003fte.1_Silent_p.E176E|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	176					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GGTACCTAATCTCCTGTTCTT	0.318000														55			4		0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31601243	31601243	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:31601243C>T	uc003nvb.4	+	16	4656	c.4407C>T	c.(4405-4407)atC>atT	p.I1469I	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Silent_p.I1469I	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	1469	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						ACCAAGTTATCCACAGCAACC	0.622000														63			6		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41463834	41463834	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:41463834C>T	uc001rmm.1	+	23	3167	c.3054C>T	c.(3052-3054)ttC>ttT	p.F1018F	CNTN1_uc001rmn.1_Silent_p.F1007F	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	1018					Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane		p.F1018F(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ACTTGGAATTCTGAATGTGTT	0.507000														58			4		0	0	1	0	0
CLK1	1195	broad.mit.edu	37	2	201724939	201724939	+	Splice_Site	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:201724939C>T	uc002uwe.2	-	4	572	c.391_splice	c.e4-1	p.K131_splice	CLK1_uc010zhi.1_Splice_Site_p.K173_splice|CLK1_uc002uwf.2_Intron|CLK1_uc002uwg.2_5'UTR	NM_004071	NP_004062	P49759	CLK1_HUMAN	Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 1, mRNA.	131					cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GGTGACTCTTCTGGAAACGTC	0.468000														99			11		0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	44913862	44913862	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:44913862C>T	uc010skz.1	-	19	2601	c.2476G>A	c.(2476-2478)Gaa>Aaa	p.E826K	NELL2_uc001rof.3_Missense_Mutation_p.E775K|NELL2_uc001rog.2_Missense_Mutation_p.E776K|NELL2_uc001roh.2_Missense_Mutation_p.E776K|NELL2_uc009zkd.2_Missense_Mutation_p.E728K|NELL2_uc010sla.1_Missense_Mutation_p.E799K	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	776					cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ACATTCATTTCGTCCAGGCAA	0.498000														68			8		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179454410	179454410	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179454410C>T	uc021vsy.1	-	252	54563	c.54338G>A	c.(54337-54339)gGa>gAa	p.G18113E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G11808E|TTN_uc021vta.1_Missense_Mutation_p.G11741E|TTN_uc021vtb.1_Missense_Mutation_p.G11616E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19040	Fibronectin type-III 31.						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)			AAATGTCTTTCCTTTATCTGC	0.458000														185			35		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41154099	41154099	+	Splice_Site	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:41154099C>T	uc003jmk.2	-	15	2312	c.2102_splice	c.e15-1	p.R701_splice	C6_uc003jml.1_Splice_Site_p.R701_splice	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	701	C5b-binding domain.|Sushi 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGCACTCCGTCCCTGCAAGAG	0.393000														59			7		0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27572162	27572162	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:27572162C>T	uc001zbg.2	+	3	731	c.477C>T	c.(475-477)atC>atT	p.I159I	GABRG3_uc001zbf.3_Silent_p.I159I	NM_033223	NP_150092	Q99928	GBRG3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA.	159					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		ACGGGAAAATCCTTTACACTT	0.443000														38			9		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39564382	39564382	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:39564382C>T	uc003xni.3	+	17	2031	c.1976C>T	c.(1975-1977)tCc>tTc	p.S659F	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.S635F	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	659					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)			CAGTTTGGTTCCCCAGGGGGT	0.318000														57			14		0	0	1	0	0
PPP1CC	5501	broad.mit.edu	37	12	111162496	111162496	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:111162496G>A	uc001tru.3	-	3	763	c.492C>T	c.(490-492)atC>atT	p.I164I	PPP1CC_uc021rdx.1_Silent_p.I164I	NM_002710	NP_002701	P36873	PP1G_HUMAN	Homo sapiens protein phosphatase 1, catalytic subunit, gamma isozyme (PPP1CC), transcript variant 1, mRNA.	164					cell division|glycogen metabolic process|mitotic prometaphase|triglyceride catabolic process	MLL5-L complex|PTW/PP1 phosphatase complex|cleavage furrow|condensed chromosome kinetochore|cytosol|midbody|nuclear speck|nucleolus	metal ion binding|protein binding|protein kinase binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|large_intestine(2)|lung(3)	6						TCTCATCCACGATGGCTGCTA	0.363000														116			17		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131864472	131864472	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:131864472G>A	uc003vra.4	-	19	4077	c.3848C>T	c.(3847-3849)tCc>tTc	p.S1283F		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1283						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGCCACACGGGACTCCAGGTT	0.552000														54			6		0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38431387	38431387	+	Nonsense_Mutation	SNP	C	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:38431387C>A	uc003tgu.3	-	18	2056	c.1840G>T	c.(1840-1842)Gag>Tag	p.E614*	AMPH_uc003tgv.3_Nonsense_Mutation_p.E572*|AMPH_uc003tgt.3_Nonsense_Mutation_p.E499*|AMPH_uc003tgw.1_Nonsense_Mutation_p.E637*|AMPH_uc010kxl.1_Non-coding_Transcript	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	614					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TGAGAGGCCTCCCTTGCAGAT	0.522000														84			11		0.0135373	0.0135844	1	1	0
ABCC8	6833	broad.mit.edu	37	11	17415306	17415306	+	Splice_Site	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:17415306C>T	uc001mnc.3	-	38	4672	c.4546_splice	c.e38-1	p.E1516_splice		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1516	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGGATGTTTTCCTGCCAAGTG	0.617000														114			5		0	0	1	0	0
FLJ00285	0	broad.mit.edu	37	16	15224295	15224295	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:15224295C>T	uc002ddh.2	-	2	798	c.406G>A	c.(406-408)Ggg>Agg	p.G136R	PDXDC1_uc002ddc.3_Intron|FLJ00285_uc010uzs.1_Non-coding_Transcript|FLJ00285_uc002ddi.3_5'UTR|FLJ00285_uc010uzt.2_Missense_Mutation_p.G136R					RecName: Full=GPS, PLAT and transmembrane domain-containing protein FLJ00285;																		CGGTAACTCCCCACTGGGTCT	0.647000														20			5		0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20097937	20097937	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:20097937C>A	uc001bcn.3	-	4	460	c.218G>T	c.(217-219)tGg>tTg	p.W73L	TMCO4_uc001bco.1_Missense_Mutation_p.W73L|TMCO4_uc001bcp.1_Missense_Mutation_p.W73L|TMCO4_uc009vpn.1_Missense_Mutation_p.W73L|TMCO4_uc001bcq.1_Missense_Mutation_p.W73L	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	73						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CAACTCCAGCCACTGCACCAG	0.537000														64			6		0.00116845	0.00117578	1	1	0
ZNF559	84527	broad.mit.edu	37	19	9452969	9452969	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:9452969C>T	uc002mle.4	+	5	1441	c.1034C>T	c.(1033-1035)tCc>tTc	p.S345F	ZNF559_uc002mld.3_3'UTR|ZNF559_uc021uoj.1_Missense_Mutation_p.S239F|ZNF559_uc010xkn.2_Missense_Mutation_p.S273F|ZNF559_uc021uok.1_Missense_Mutation_p.S281F|ZNF559_uc021uol.1_3'UTR|ZNF559_uc010dwk.2_3'UTR|ZNF559_uc002mlf.3_3'UTR|ZNF559_uc010dwl.2_3'UTR|ZNF559_uc021uom.1_3'UTR|ZNF177_uc002mli.3_Intron|ZNF177_uc002mlj.3_Intron	NM_001202406	NP_001189335	Q9BR84	ZN559_HUMAN	Homo sapiens zinc finger protein 559 (ZNF559), transcript variant 1, mRNA.	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R345Q(2)|p.S281F(1)		endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TTTGCTTTTTCCCCAGATCTT	0.333000														103			10		0	0	1	0	0
PDCD2L	84306	broad.mit.edu	37	19	34900345	34900345	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:34900345C>T	uc002nvj.3	+	3	649	c.616C>T	c.(616-618)Cat>Tat	p.H206Y		NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	Homo sapiens programmed cell death 2-like (PDCD2L), mRNA.	206						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CAACCTGGATCATGCCCACAG	0.547000														102			8		0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68606139	68606139	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:68606139C>T	uc010bib.3	-	22	2947	c.2860G>A	c.(2860-2862)Gag>Aag	p.E954K	ITGA11_uc002ari.3_Missense_Mutation_p.E954K	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	954					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	ACGTCAGCCTCGTATTTGAGG	0.637000														21			5		0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242047622	242047622	+	Silent	SNP	G	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:242047622G>C	uc002wao.2	-	15	3760	c.3627C>G	c.(3625-3627)acC>acG	p.T1209T	PASK_uc010zol.2_Silent_p.T1023T|PASK_uc010zom.2_Silent_p.T1174T|PASK_uc010fzl.2_Silent_p.T1216T|PASK_uc010zon.2_Silent_p.T990T|PASK_uc021vzf.1_Silent_p.T1209T	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	1209	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CAGCCTCCACGGTCTCCTCCA	0.567000														100			17		0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158449913	158449913	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:158449913C>T	uc010pik.2	+	0	246	c.246C>T	c.(244-246)ttC>ttT	p.F82F	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F82F(2)|p.F81F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TGTACTTCTTCCTTGGCATTC	0.413000														270			13		0	0	1	0	0
TGFB2	7042	broad.mit.edu	37	1	218607692	218607692	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:218607692G>A	uc001hlm.3	+	3	2024	c.656G>A	c.(655-657)gGa>gAa	p.G219E	TGFB2_uc001hln.3_Missense_Mutation_p.G247E|TGFB2_uc010pue.2_Non-coding_Transcript|TGFB2_uc001hlo.3_Non-coding_Transcript	NM_003238	NP_003229	P61812	TGFB2_HUMAN	Homo sapiens transforming growth factor, beta 2 (TGFB2), transcript variant 2, mRNA.	219					SMAD protein import into nucleus|activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		AGGAACCTGGGATTTAAAATA	0.358000														62			10		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85672726	85672726	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:85672726G>A	uc003hpd.3	-	35	6291	c.5883C>T	c.(5881-5883)ttC>ttT	p.F1961F		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1961						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGTCAAAAACGAACTTTTTAG	0.443000														104			12		0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58520702	58520702	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:58520702G>A	uc003dkl.3	-	1	307	c.132C>T	c.(130-132)gcC>gcT	p.A44A		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA.	44					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CAGTGTTCTGGGCACCTCCAT	0.517000														272			28		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40739128	40739128	+	Splice_Site	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:40739128C>T	uc002xkg.3	-	23	3284	c.3100_splice	c.e23-1	p.K1034_splice	PTPRT_uc010ggj.3_Splice_Site_p.K1053_splice|PTPRT_uc010ggi.3_Splice_Site_p.K237_splice	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1034	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGTAGCCTTTCTGAGGAAAGA	0.617000														42			5		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212252695	212252695	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:212252695G>A	uc002veg.1	-	25	3256	c.3158C>T	c.(3157-3159)cCt>cTt	p.P1053L	ERBB4_uc002veh.1_Intron|ERBB4_uc010zji.1_Missense_Mutation_p.P1043L|ERBB4_uc010zjj.1_Intron	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	1053					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GTAGGCAGGAGGAGGGCTGTG	0.368000										TSP Lung(8;0.080)				129			12		0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103234200	103234200	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:103234200C>T	uc001tjq.1	-	11	1766	c.1293G>A	c.(1291-1293)aaG>aaA	p.K431K		NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	431					L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CAGCCAAAATCTTAAGCTGCT	0.463000														90			13		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119944594	119944594	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:119944594C>T	uc010inb.3	+	1	311	c.115C>T	c.(115-117)Cag>Tag	p.Q39*	SYNPO2_uc010ina.3_Nonsense_Mutation_p.Q39*|SYNPO2_uc003icm.4_Nonsense_Mutation_p.Q39*|SYNPO2_uc011cgh.2_Nonsense_Mutation_p.Q39*|SYNPO2_uc010inc.3_5'UTR	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	39	PDZ.					Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GATTCGAAATCAGAGCAAAGC	0.423000														65			10		0	0	1	0	0
LIX1	167410	broad.mit.edu	37	5	96430636	96430636	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:96430636G>A	uc003kmy.4	-	5	905	c.665C>T	c.(664-666)tCt>tTt	p.S222F		NM_153234	NP_694966	Q8N485	LIX1_HUMAN	Homo sapiens Lix1 homolog (chicken) (LIX1), mRNA.	222										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		TAGCTCTTGAGAGACAATTCC	0.473000														96			15		0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51697238	51697238	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:51697238C>T	uc011bdt.2	+	21	4331	c.4206C>T	c.(4204-4206)tcC>tcT	p.S1402S	RAD54L2_uc003dbh.3_Silent_p.S991S|RAD54L2_uc011bdu.2_Silent_p.S1096S|RAD54L2_uc003dbj.3_Silent_p.S728S	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	1402						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CTTTTCCTTCCCCTGTCTTGC	0.577000														96			17		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	30974079	30974079	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:30974079G>A	uc009yjk.1	-	8	1041	c.972C>T	c.(970-972)ggC>ggT	p.G324G	DCDC5_uc021qfk.1_5'UTR|DCDC5_uc009yjl.1_Intron|DCDC5_uc001msu.2_Silent_p.G495G	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	0					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						GTTTCCACTGGCCTGGCTTAC	0.373000														21			3		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31599958	31599958	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:31599958G>A	uc002rnv.1	-	13	1467	c.1388C>T	c.(1387-1389)aCc>aTc	p.T463I		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	463					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GGCTGAGATGGTTCTGTTGGC	0.473000														116			6		0	0	1	0	0
DUSP4	1846	broad.mit.edu	37	8	29197691	29197691	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:29197691G>A	uc003xhm.3	-	1	975	c.503C>T	c.(502-504)cCa>cTa	p.P168L	DUSP4_uc003xhl.3_Missense_Mutation_p.P77L	NM_001394	NP_001385	Q13115	DUS4_HUMAN	Homo sapiens dual specificity phosphatase 4 (DUSP4), transcript variant 1, mRNA.	168					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|endoderm formation|inactivation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|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	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		AACCGGGGGTGGGATGGCTGC	0.597000											OREG0018686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			8		0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6457950	6457950	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:6457950G>A	uc001qnw.3	-	10	2013	c.1749C>T	c.(1747-1749)gtC>gtT	p.V583V	SCNN1A_uc001qnv.3_Silent_p.V224V|SCNN1A_uc001qnx.3_Silent_p.V524V|SCNN1A_uc010sfb.2_Silent_p.V547V	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	524					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	AGAAGATGTTGACTTTGGCCA	0.498000														150			27		0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	31066350	31066350	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr21:31066350C>A	uc002yno.1	-	1	615	c.151G>T	c.(151-153)Gtt>Ttt	p.V51F	GRIK1_uc002ynn.3_Missense_Mutation_p.V51F|GRIK1_uc011acs.2_Missense_Mutation_p.V51F|GRIK1_uc011act.2_Intron|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.3_Missense_Mutation_p.V51F	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	51					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	p.P50S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TCAACATTAACAGGCTCATTT	0.378000														75			5		0.000602214	0.00060684	1	1	0
OR2M5	127059	broad.mit.edu	37	1	248308504	248308504	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:248308504A>G	uc010pze.2	+	0	55	c.55A>G	c.(55-57)Aat>Gat	p.N19D		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GGGAATCTTCAATCACAGCCC	0.453000														399			16		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802581	185802581	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:185802581C>T	uc002uph.3	+	3	3052	c.2458C>T	c.(2458-2460)Cac>Tac	p.H820Y		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	820						intracellular	zinc ion binding	p.H820H(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGGCAGATTCCACCCCGGATT	0.398000														66			18		0	0	1	0	0
C17orf77	146723	broad.mit.edu	37	17	72588903	72588903	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:72588903C>T	uc002jla.1	+	2	1080	c.718C>T	c.(718-720)Cca>Tca	p.P240S	CD300LD_uc002jkz.2_5'Flank|C17orf77_uc021ucq.1_Missense_Mutation_p.P240S	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	Homo sapiens chromosome 17 open reading frame 77 (C17orf77), mRNA.	240						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						AGGAACACTTCCACTGGGATC	0.552000														76			8		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21906166	21906166	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:21906166G>T	uc003svc.3	+	71	11627	c.11596G>T	c.(11596-11598)Gaa>Taa	p.E3866*		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3866					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAAGTGGGTAGAATCCGAGTG	0.428000									Kartagener syndrome					103			9		4.68919e-08	4.76179e-08	1	1	0
IL17RC	84818	broad.mit.edu	37	3	9959258	9959258	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:9959258G>A	uc003bua.3	+	0	477	c.259G>A	c.(259-261)Ggc>Agc	p.G87S	CIDEC_uc003bto.3_Intron|IL17RC_uc010hcr.3_Intron|IL17RC_uc011ato.2_Intron|IL17RC_uc010hcs.3_Intron|IL17RC_uc003btz.3_Intron|IL17RC_uc011atp.2_Intron|IL17RC_uc003bud.3_Intron|IL17RC_uc010hct.3_Intron|IL17RC_uc010hcu.3_Intron|IL17RC_uc003bub.3_Intron|IL17RC_uc010hcv.3_Intron|IL17RC_uc003buc.3_Intron|IL17RC_uc011atq.2_Intron	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA.	87						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ACGGGGAAGGGGCAAGAGCTG	0.562000														141			8		0	0	1	0	0
BC128131	0	broad.mit.edu	37	19	23159540	23159540	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:23159540G>A	uc002nqz.1	-	1	433	c.407C>T	c.(406-408)tCc>tTc	p.S136F	BC128131_uc002nqy.1_Non-coding_Transcript					Homo sapiens zinc finger protein 117, mRNA (cDNA clone IMAGE:40112371).																		ACTTTTGTAGGAATTCTCTCT	0.348000														32			8		0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967879	4967879	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:4967879G>A	uc010qys.2	-	0	452	c.452C>T	c.(451-453)tCc>tTc	p.S151F		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTCTTAAAGGAGAATACTAT	0.423000														320			18		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324610	152324610	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:152324610A>C	uc001ezw.4	-	2	5725	c.5652T>G	c.(5650-5652)agT>agG	p.S1884R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1884							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCACTGTCACTGGACTCAC	0.507000														473			24		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164709179	164709179	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:164709179G>A	uc003fei.3	-	43	5133	c.5070C>T	c.(5068-5070)atC>atT	p.I1690I		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1690	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.I1690I(2)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GACATGGTAGGATGTGACCAC	0.383000										HNSCC(35;0.089)				103			10		0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102361024	102361024	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:102361024C>T	uc003knt.3	+	22	3048	c.2675C>T	c.(2674-2676)tCa>tTa	p.S892L	PAM_uc003knw.3_Missense_Mutation_p.S892L|PAM_uc003kns.3_Missense_Mutation_p.S785L|PAM_uc003knu.3_Intron|PAM_uc011cuz.2_Missense_Mutation_p.S794L|PAM_uc003knv.3_Intron|PAM_uc003knz.3_Missense_Mutation_p.S132L	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	892					peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TGGAAAAAATCAAGGGCCTTT	0.473000														85			12		0	0	1	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159776704	159776704	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:159776704G>A	uc003lyd.3	-	2	468	c.464C>T	c.(463-465)cCc>cTc	p.P155L		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 2 (C1QTNF2), mRNA.	110	C1q.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	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)			GACCCCCTTGGGGCCACGGGG	0.687000														84			11		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10474094	10474094	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:10474094C>T	uc003wtc.3	-	2	842	c.613G>A	c.(613-615)Gac>Aac	p.D205N		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	205					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGCAGCGAGTCCACCTGAGGG	0.657000														35			7		0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104427608	104427608	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:104427608G>A	uc003yln.3	+	0	667	c.390G>A	c.(388-390)ggG>ggA	p.G130G	SLC25A32_uc003yll.3_5'Flank|SLC25A32_uc011lhr.2_5'Flank|DCAF13_uc003ylm.1_5'UTR	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.	0					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TCGCCTGTGGGAGGAGGTGGC	0.627000														91			8		0	0	1	0	0
GNPDA1	10007	broad.mit.edu	37	5	141391561	141391561	+	Nonsense_Mutation	SNP	C	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:141391561C>A	uc003lmf.4	-	0	799	c.40G>T	c.(40-42)Gag>Tag	p.E14*	GNPDA1_uc003lmg.4_Nonsense_Mutation_p.E14*|GNPDA1_uc010jgh.3_Nonsense_Mutation_p.E14*|GNPDA1_uc003lmh.4_Nonsense_Mutation_p.E14*	NM_005471	NP_005462	P46926	GNPI1_HUMAN	Homo sapiens glucosamine-6-phosphate deaminase 1 (GNPDA1), mRNA.	14					N-acetylglucosamine metabolic process|generation of precursor metabolites and energy|glucosamine catabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCCCACTCGCTCGCCTGA	0.542000											OREG0016880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		59			4		0.00909568	0.00913366	1	1	0
CEACAM8	1088	broad.mit.edu	37	19	43093166	43093166	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:43093166G>A	uc002oud.2	-	3	830	c.728C>T	c.(727-729)tCc>tTc	p.S243F	AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 8 (CEACAM8), mRNA.	243	Ig-like C2-type 2.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GTCTGAAGGGGAAATGGTGGG	0.517000														99			8		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49433792	49433792	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:49433792G>A	uc001rta.4	-	30	7761	c.7761C>T	c.(7759-7761)ttC>ttT	p.F2587F		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2587	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CCGATGGGTGGAAGTTCCCTG	0.652000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				30			4		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488582	108488582	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:108488582G>A	uc010ywk.2	+	19	4204	c.4122G>A	c.(4120-4122)tgG>tgA	p.W1374*	RGPD4_uc002tdu.3_Nonsense_Mutation_p.W561*|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1374	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TTGGTCAATGGAAAGAAAGGG	0.353000														268			22		0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887176	12887176	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:12887176C>T	uc001auk.2	-	2	877	c.681G>A	c.(679-681)ctG>ctA	p.L227L		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	227										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGAGGCAGCGCAGCTTGAGGA	0.522000														398			23		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100084731	100084731	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:100084731G>A	uc003uvd.1	+	2	515	c.356G>A	c.(355-357)cGg>cAg	p.R119Q	NYAP1_uc003uve.1_5'Flank	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	119																	GCCAAGCCCCGGAGACACCCC	0.682000														34			11		0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77817360	77817360	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:77817360G>A	uc003hki.3	-	0	1643	c.1643C>T	c.(1642-1644)tCa>tTa	p.S548L		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA.	548																	AAGTTTTAGTGATAAACCTGC	0.617000														52			8		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848207	73848207	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:73848207C>T	uc003xzb.3	+	2	1205	c.617C>T	c.(616-618)tCc>tTc	p.S206F		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	206					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			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)			ATTGTGCTTTCCACCATTGCT	0.488000														209			29		0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887496	12887496	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:12887496C>T	uc001auk.2	-	2	557	c.361G>A	c.(361-363)Gat>Aat	p.D121N		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	121								p.D121N(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AGGTATTCATCCAGAGTCCTG	0.483000														741			47		0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310434	124310434	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:124310434G>A	uc010sal.2	-	0	548	c.548C>T	c.(547-549)cCc>cTc	p.P183L		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CTCAAGAAGGGGAAGGATGTC	0.507000														104			5		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40947778	40947778	+	Silent	SNP	A	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:40947778A>G	uc003jmh.3	+	7	927	c.813A>G	c.(811-813)caA>caG	p.Q271Q	C7_uc011cpn.1_Intron	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	271	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AATTTTTACAACTTGCTGAGC	0.443000														38			6		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130963465	130963465	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:130963465G>A	uc001uil.2	-	2	310	c.94C>T	c.(94-96)Ctg>Ttg	p.L32L	RIMBP2_uc001uim.3_5'UTR	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	32						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ACCTTCTGCAGAAGGTCAATT	0.677000														78			5		0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939042	2939042	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:2939042C>T	uc001ajz.3	+	0	997	c.792C>T	c.(790-792)ttC>ttT	p.F264F		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	264						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		AGGCCCTGTTCGTGCCCCAGC	0.642000														95			19		0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18266935	18266935	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:18266935C>T	uc001ipo.2	+	4	1129	c.856C>T	c.(856-858)Cag>Tag	p.Q286*	SLC39A12_uc001ipn.2_Nonsense_Mutation_p.Q286*|SLC39A12_uc001ipp.2_Nonsense_Mutation_p.Q286*|SLC39A12_uc010qck.1_Nonsense_Mutation_p.Q152*	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	286					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.Q286*(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AACCCATGATCAGGACTATTC	0.373000														111			7		0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41488011	41488011	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:41488011G>A	uc010ucv.2	-	8	954	c.682C>T	c.(682-684)Cag>Tag	p.Q228*	EXD1_uc001znk.3_Nonsense_Mutation_p.Q170*	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	170					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						ATTCCATACTGATGAGAGAGG	0.413000														48			12		0	0	1	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122983377	122983377	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:122983377G>A	uc001ucn.3	-	1	395	c.239C>T	c.(238-240)cCg>cTg	p.P80L	ZCCHC8_uc009zxp.3_5'UTR|ZCCHC8_uc009zxq.3_5'UTR	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	Homo sapiens zinc finger, CCHC domain containing 8 (ZCCHC8), mRNA.	80						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		CTCATACCTCGGTCGAGTCAG	0.284000														18			3		0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52643874	52643874	+	Silent	SNP	A	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:52643874A>G	uc003des.2	-	15	2034	c.2022T>C	c.(2020-2022)gaT>gaC	p.D674D	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Silent_p.D674D|PBRM1_uc003der.2_Silent_p.D642D|PBRM1_uc003det.2_Silent_p.D689D|PBRM1_uc003deu.2_Silent_p.D689D|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Silent_p.D674D|PBRM1_uc010hmk.1_Silent_p.D674D|PBRM1_uc003dey.2_Silent_p.D674D|PBRM1_uc003dez.1_Silent_p.D674D|PBRM1_uc003dfb.1_Silent_p.D587D|PBRM1_uc003dfa.1_Silent_p.D20D|PBRM1_uc003dfc.3_Silent_p.D41D	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	674			D -> E (found in a case of clear cell renal carcinoma; somatic mutation).		chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding	p.D674E(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GACCCCTCTTATCAGTATAGT	0.418000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									151			20		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168108266	168108266	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:168108266C>T	uc002udx.3	+	8	10453	c.10364C>T	c.(10363-10365)cCa>cTa	p.P3455L	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.P3280L|XIRP2_uc010fpq.3_Missense_Mutation_p.P3233L|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3280					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGCATGCCCCACCAACCTAT	0.403000														68			14		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90212023	90212023	+	RNA	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:90212023G>A	uc010yts.2	+	37		c.4710G>A								Parts of antibodies, mostly variable regions.																		AGGGGAAAGAGCCACCCTCTC	0.517000														124			11		0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50090899	50090899	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:50090899C>T	uc003jon.4	+	12	1258	c.1076C>T	c.(1075-1077)tCg>tTg	p.S359L	PARP8_uc011cpz.2_Missense_Mutation_p.S251L|PARP8_uc003joo.3_Missense_Mutation_p.S359L|PARP8_uc003jop.3_Missense_Mutation_p.S359L	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	359						intracellular	NAD+ ADP-ribosyltransferase activity	p.K358Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GCAATTAAATCGCACAAACTT	0.488000														125			7		0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116429580	116429580	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:116429580G>A	uc001tvw.3	-	16	3234	c.3179C>T	c.(3178-3180)cCc>cTc	p.P1060L		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	1060					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCCACCTCTGGGAGTTCTTGG	0.607000														86			10		0	0	1	0	0
CD8B	926	broad.mit.edu	37	2	87085229	87085229	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:87085229G>A	uc002srw.3	-	1	413	c.354C>T	c.(352-354)atC>atT	p.I118I	RMND5A_uc002srs.4_Intron|CD8B_uc002srx.3_Silent_p.I118I|CD8B_uc002sry.3_Silent_p.I118I|CD8B_uc010fgt.3_Silent_p.I118I|CD8B_uc002srz.3_Silent_p.I118I|CD8B_uc010yto.2_Silent_p.I118I	NM_172213	NP_757362	P10966	CD8B_HUMAN	Homo sapiens CD8b molecule (CD8B), transcript variant 2, mRNA.	118	Ig-like V-type.				T cell activation|immune response|regulation of defense response to virus by virus|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	T cell receptor complex|early endosome|extracellular region|integral to plasma membrane	MHC class I protein binding|coreceptor activity	p.I118I(3)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						GGCTCCCGACGATCATGCAGA	0.542000														154			18		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058180	9058180	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:9058180G>A	uc002mkp.3	-	2	29470	c.29266C>T	c.(29266-29268)Cct>Tct	p.P9756S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9758	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGTCACAGGAAGAGGAGAG	0.473000														67			6		0	0	1	0	0
SLC35B3	51000	broad.mit.edu	37	6	8417658	8417658	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:8417658G>A	uc011did.2	-	7	1227	c.850C>T	c.(850-852)Cct>Tct	p.P284S	SLC35B3_uc003myc.3_Non-coding_Transcript|SLC35B3_uc003myd.3_Non-coding_Transcript|SLC35B3_uc010joe.3_Missense_Mutation_p.P284S|SLC35B3_uc003myb.3_Missense_Mutation_p.P284S	NM_001142540	NP_057032	Q9H1N7	S35B3_HUMAN	Homo sapiens solute carrier family 35, member B3 (SLC35B3), transcript variant 2, mRNA.	284					transmembrane transport	Golgi membrane|integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					GTTACTGCAGGGCCTAATCCA	0.299000														44			6		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115079323	115079323	+	RNA	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:115079323C>T	uc001eez.3	-	28		c.4320G>A				NM_198459		Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.											NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-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)		AGCAGGATGTCGATATGGTGT	0.532000														99			11		0	0	1	0	0
LOXL3	84695	broad.mit.edu	37	2	74777322	74777322	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:74777322T>C	uc002smp.1	-	2	539	c.467A>G	c.(466-468)aAt>aGt	p.N156S	LOXL3_uc002smo.1_5'Flank|LOXL3_uc010ffm.1_Missense_Mutation_p.N156S|LOXL3_uc002smq.1_Missense_Mutation_p.N156S|LOXL3_uc010ffn.1_Missense_Mutation_p.N156S|DOK1_uc002smr.3_Intron	NM_032603	NP_115992	P58215	LOXL3_HUMAN	Homo sapiens lysyl oxidase-like 3 (LOXL3), mRNA.	156						extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CTCAATGACATTGGAGTCCGA	0.547000														163			8		0	0	1	0	0
EIF3E	3646	broad.mit.edu	37	8	109215673	109215673	+	Nonsense_Mutation	SNP	A	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:109215673A>T	uc003ymu.3	-	10	1149	c.1121T>A	c.(1120-1122)tTg>tAg	p.L374*	EIF3E_uc003ymt.3_Nonsense_Mutation_p.L325*	NM_001568	NP_001559	P60228	EIF3E_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit E (EIF3E), mRNA.	374	PCI.|Sufficient for interaction with MCM7.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	PML body|cytosol|eukaryotic translation initiation factor 3 complex	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			ATTTCTAATCAAATTTACAAT	0.338000														70			15		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39265947	39265947	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr13:39265947G>A	uc001uwv.3	+	0	4775	c.4466G>A	c.(4465-4467)gGa>gAa	p.G1489E		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1489					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)		CAACTGGCTGGAAACAAAATC	0.483000														103			8		0	0	1	0	0
ZNF554	115196	broad.mit.edu	37	19	2827679	2827679	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:2827679C>T	uc002lwm.2	+	2	389	c.191C>T	c.(190-192)cCt>cTt	p.P64L	ZNF554_uc002lwl.2_Missense_Mutation_p.P13L	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	Homo sapiens zinc finger protein 554 (ZNF554), mRNA.	64	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	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)		TTGCTGGAGCCTGCTCAGAAG	0.498000														72			12		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57326874	57326874	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:57326874G>A	uc002qnu.2	-	6	3287	c.2936C>T	c.(2935-2937)gCt>gTt	p.A979V	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.A950V|PEG3_uc002qnv.2_Missense_Mutation_p.A979V|PEG3_uc002qnw.2_Missense_Mutation_p.A855V|PEG3_uc002qnx.2_Missense_Mutation_p.A853V|PEG3_uc010etr.2_Missense_Mutation_p.A979V	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	979					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGAGCTATGAGCAAAGCACTC	0.493000														132			10		0	0	1	0	0
EDARADD	128178	broad.mit.edu	37	1	236577593	236577593	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:236577593C>T	uc001hxu.1	+	2	219	c.154C>T	c.(154-156)Cct>Tct	p.P52S	EDARADD_uc001hxv.1_Missense_Mutation_p.P42S	NM_145861	NP_665860	Q8WWZ3	EDAD_HUMAN	Homo sapiens EDAR-associated death domain (EDARADD), transcript variant A, mRNA.	52					cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TACGGAACTCCCTAAAGGTAT	0.299000														75			11		0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47246973	47246973	+	Silent	SNP	C	T	T	rs148145494		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:47246973C>T	uc002ion.2	+	10	1643	c.1584C>T	c.(1582-1584)gaC>gaT	p.D528D	B4GALNT2_uc010wlt.1_Silent_p.D442D|B4GALNT2_uc010wlu.1_Silent_p.D468D	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	528					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CAGTGGTGGACTCAGAACTGG	0.532000														72			10		0	0	1	0	0
CENPQ	55166	broad.mit.edu	37	6	49448694	49448694	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:49448694C>T	uc003ozh.1	+	5	467	c.378C>T	c.(376-378)gtC>gtT	p.V126V		NM_018132	NP_060602	Q7L2Z9	CENPQ_HUMAN	Homo sapiens centromere protein Q (CENPQ), mRNA.	126					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					CTCTGAAAGTCCCTCCCAAAA	0.323000														54			5		0	0	1	0	0
HSD17B6	8630	broad.mit.edu	37	12	57175790	57175790	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:57175790C>T	uc001smg.1	+	2	456	c.346C>T	c.(346-348)Ctt>Ttt	p.L116F		NM_003725	NP_003716	O14756	H17B6_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse) (HSD17B6), mRNA.	116					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	TGCAGGCATTCTTACACCAAT	0.413000														97			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179577062	179577062	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179577062G>A	uc021vsy.1	-	91	24080	c.23855C>T	c.(23854-23856)tCa>tTa	p.S7952L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S4613L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8879	Ig-like 62.						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)			TATTTGTGCTGAACAGGAATC	0.383000														205			38		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531845	50531845	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:50531845G>A	uc021pqb.1	+	0	1255	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K	C10orf71_uc021pqa.1_Missense_Mutation_p.E418K|C10orf71_uc021pqc.1_Missense_Mutation_p.E419K	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	419										endometrium(1)	1						CAACCCCCAGGAACAGTTTTC	0.443000														107			5		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932835	83932835	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:83932835C>T	uc002bjt.1	-	3	1256	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	BNC1_uc010uos.1_Missense_Mutation_p.E378K	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	390					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I389I(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TTACACCCTTCGATGGTGCAC	0.512000														144			29		0	0	1	0	0
CFI	3426	broad.mit.edu	37	4	110687908	110687908	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:110687908C>T	uc011cft.2	-	1	338	c.130G>A	c.(130-132)Gat>Aat	p.D44N	CFI_uc003hzr.4_Missense_Mutation_p.D44N	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	44					complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	p.C43S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		AAGACTTTATCGCAGGAGAGG	0.423000														73			8		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73494026	73494026	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:73494026C>T	uc001jrx.4	+	31	4518	c.4128C>T	c.(4126-4128)gaC>gaT	p.D1376D	C10orf105_uc001jsb.2_Intron|CDH23_uc001jsc.1_Silent_p.D186D	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1378	Cadherin 13.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCCTGGTGGACCGTGAGAAGG	0.602000														19			4		0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150841010	150841010	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:150841010C>T	uc003wjg.1	+	17	2719	c.2716C>T	c.(2716-2718)Cgt>Tgt	p.R906C	AGAP3_uc003wje.1_Missense_Mutation_p.R575C|AGAP3_uc003wjj.1_Missense_Mutation_p.R405C|AGAP3_uc003wjk.1_Missense_Mutation_p.R324C	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	870					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	p.R906S(2)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGAGCTGCACCGTAGTCCTAG	0.622000														97			9		0	0	1	0	0
TREM1	54210	broad.mit.edu	37	6	41248885	41248885	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:41248885G>A	uc003oqf.2	-	2	477	c.413C>T	c.(412-414)tCa>tTa	p.S138L	TREM1_uc003oqg.2_Intron|TREM1_uc021yzj.1_Missense_Mutation_p.S138L	NM_018643	NP_061113	Q9NP99	TREM1_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells 1 (TREM1), transcript variant 1, mRNA.	138					blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	AGGGGTCCCTGAAAAACCTGC	0.473000														56			7		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169639003	169639003	+	Splice_Site	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:169639003G>A	uc003fgd.3	+	4	354	c.87_splice	c.e4-1	p.R29_splice	SAMD7_uc003fge.3_Splice_Site_p.R29_splice|SAMD7_uc011bpo.2_Splice_Site	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	29										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGTTCTCAGAGATGTATTGCC	0.383000														107			18		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	31799581	31799581	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:31799581G>A	uc003jhl.3	+	1	614	c.226G>A	c.(226-228)Gag>Aag	p.E76K	PDZD2_uc003jhm.3_Missense_Mutation_p.E76K	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	76					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCTCACCAAGGAGCTGGGGGA	0.552000														173			34		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27158127	27158127	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:27158127G>A	uc011lno.2	+	1	793	c.351G>A	c.(349-351)aaG>aaA	p.K117K	TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Silent_p.K117K|TEK_uc003zqi.4_Silent_p.K117K|TEK_uc011lnp.2_Intron|TEK_uc003zqj.1_Silent_p.K94K	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	117	Ig-like C2-type 1.		K -> N (in breast cancer samples; infiltrating ductal carcinoma; somatic mutation).		angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.K117N(4)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GAACCATGAAGATGCGTCAAC	0.493000														108			9		0	0	1	0	0
MDH1B	130752	broad.mit.edu	37	2	207615732	207615732	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:207615732C>G	uc002vbs.3	-	5	1033	c.978G>C	c.(976-978)agG>agC	p.R326S	MDH1B_uc010ziw.2_Intron|MDH1B_uc002vbt.3_Intron|MDH1B_uc010fui.3_Missense_Mutation_p.R326S|MDH1B_uc021vvm.1_Missense_Mutation_p.R228S	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA.	326					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	p.R326M(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		ATCTGTACACCCTTGTTTTTC	0.338000														77			6		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13381495	13381495	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:13381495G>A	uc003bxv.1	-	24	3413	c.3330C>T	c.(3328-3330)atC>atT	p.I1110I		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1110					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGGAGAAAAGGATGTTGGACT	0.662000														157			26		0	0	1	0	0
SCRN1	9805	broad.mit.edu	37	7	29980367	29980367	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:29980367C>T	uc011kaa.2	-	4	779	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	SCRN1_uc011jzy.2_Missense_Mutation_p.E156K|SCRN1_uc003tak.3_Missense_Mutation_p.E224K|SCRN1_uc011jzz.2_Missense_Mutation_p.E224K|SCRN1_uc011jzw.2_Intron|SCRN1_uc010kvp.3_Missense_Mutation_p.E224K|SCRN1_uc011jzx.2_Missense_Mutation_p.E47K	NM_001145514	NP_001138986	Q12765	SCRN1_HUMAN	Homo sapiens secernin 1 (SCRN1), transcript variant 3, mRNA.	224					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						GAAAAGACTTCGGAAAAATTG	0.498000														114			36		0	0	1	0	0
NEK11	79858	broad.mit.edu	37	3	130889704	130889704	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:130889704G>A	uc003eny.3	+	13	1698	c.1372G>A	c.(1372-1374)Gat>Aat	p.D458N	NEK11_uc003enx.3_Missense_Mutation_p.D458N|NEK11_uc003eoa.3_Missense_Mutation_p.D458N|NEK11_uc003enz.3_Missense_Mutation_p.D276N|NEK11_uc011blk.2_Missense_Mutation_p.D274N|NEK11_uc011bll.2_Missense_Mutation_p.D353N|NEK11_uc011blm.2_Missense_Mutation_p.D458N	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 11 (NEK11), transcript variant 1, mRNA.	458					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						AATTGTAGAGGATGCCACATC	0.473000														133			23		0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55036748	55036748	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:55036748G>A	uc010rid.2	+	4	695	c.609G>A	c.(607-609)caG>caA	p.Q203Q		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	Homo sapiens tripartite motif containing 48 (TRIM48), mRNA.	187						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ACATGCCCCAGCCTCTGAATC	0.502000														26			4		0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48327960	48327960	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:48327960C>T	uc010rhu.2	+	0	186	c.186C>T	c.(184-186)agC>agT	p.S62S		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TCTTCCTGAGCCAGTTGTCTT	0.448000														146			9		0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186974536	186974536	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:186974536C>T	uc003frh.2	-	4	1050	c.660G>A	c.(658-660)gaG>gaA	p.E220E	MASP1_uc003fri.3_Silent_p.E220E|MASP1_uc003frj.3_Silent_p.E189E|MASP1_uc003frk.2_Silent_p.E220E|MASP1_uc011bse.2_Silent_p.E194E	NM_001879	NP_001870	P48740	MASP1_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA.	220	CUB 2.|Interaction with FCN2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CCATGAAACCCTCCTCCAGCT	0.512000														93			16		0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17819691	17819691	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:17819691G>A	uc022btm.1	-	0	440	c.440C>T	c.(439-441)tCc>tTc	p.S147F	RAI2_uc004cyf.3_Missense_Mutation_p.S147F|RAI2_uc004cyg.3_Missense_Mutation_p.S147F|RAI2_uc011miy.2_Missense_Mutation_p.S97F|RAI2_uc022btl.1_Missense_Mutation_p.S147F|RAI2_uc004cyh.4_Missense_Mutation_p.S147F|RAI2_uc010nfa.3_Missense_Mutation_p.S147F	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	147					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GGTACTGGAGGAGCATGGGGC	0.672000														58			10		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11554575	11554575	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:11554575G>A	uc002gne.3	+	12	2355	c.2287G>A	c.(2287-2289)Gaa>Aaa	p.E763K	DNAH9_uc010coo.3_Missense_Mutation_p.E57K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	763	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATTAGTGGAGGAAGAGCTGCA	0.438000														102			10		0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63257039	63257039	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:63257039G>A	uc011cqt.2	-	0	508	c.508C>T	c.(508-510)Ccg>Tcg	p.P170S		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	170					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGCATGGGCGGGATAGAGATG	0.612000														171			14		0	0	1	0	0
MC5R	4161	broad.mit.edu	37	18	13826326	13826326	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr18:13826326C>T	uc010xaf.2	+	0	784	c.562C>T	c.(562-564)Ctg>Ttg	p.L188L		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	188					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CTACGTCATCCTGTGCCTCAT	0.587000														637			27		0	0	1	0	0
REN	5972	broad.mit.edu	37	1	204129793	204129793	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:204129793G>A	uc001haq.2	-	3	431	c.387C>T	c.(385-387)ctC>ctT	p.L129L		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	129					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AAGCATCGAAGAGCTTGTGAT	0.552000														107			16		0	0	1	0	0
GBP2	2634	broad.mit.edu	37	1	89583323	89583323	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:89583323C>T	uc001dmz.1	-	4	833	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	GBP2_uc001dmy.1_Non-coding_Transcript	NM_004120	NP_004111	P32456	GBP2_HUMAN	Homo sapiens guanylate binding protein 2, interferon-inducible (GBP2), mRNA.	188					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CCATCTACTTCCAGTTCCAGG	0.438000														74			11		0	0	1	0	0
PLS1	5357	broad.mit.edu	37	3	142389935	142389935	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:142389935C>T	uc010huv.3	+	3	494	c.335C>T	c.(334-336)tCc>tTc	p.S112F	PLS1_uc003euz.3_Missense_Mutation_p.S112F|PLS1_uc003eva.3_Missense_Mutation_p.S112F	NM_001145319	NP_002661	Q14651	PLSI_HUMAN	Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA.	112	Actin-binding 1.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TCAACTATTTCCAGTGAGGGC	0.338000														165			28		0	0	1	0	0
ZNF727	442319	broad.mit.edu	37	7	63529378	63529378	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:63529378G>A	uc011kdm.2	+	1	292	c.113G>A	c.(112-114)gGa>gAa	p.G38E		NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN	Homo sapiens zinc finger protein 727 (ZNF727), mRNA.	38	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						GAGAACTACGGAAACCTGTTC	0.388000														15			4		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28992934	28992934	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr18:28992934G>A	uc002kwr.2	+	14	2691	c.2556G>A	c.(2554-2556)atG>atA	p.M852I	DSG4_uc002kwq.2_Missense_Mutation_p.M833I	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	833					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.M833I(1)		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)			AAAGCTGCATGGAAACTTTAG	0.433000														113			6		0	0	1	0	0
FURIN	5045	broad.mit.edu	37	15	91421424	91421424	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:91421424C>T	uc002bpu.1	+	7	946	c.730C>T	c.(730-732)Ccc>Tcc	p.P244S		NM_002569	NP_002560	P09958	FURIN_HUMAN	Homo sapiens furin (paired basic amino acid cleaving enzyme) (FURIN), mRNA.	244					Notch signaling pathway|cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	Golgi lumen|Golgi membrane|cell surface|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GGGCCTGAACCCCAACCACAT	0.662000														87			11		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179472717	179472717	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179472717C>T	uc021vsy.1	-	224	45318	c.45093G>A	c.(45091-45093)ggG>ggA	p.G15031G	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.G8726G|TTN_uc021vta.1_Silent_p.G8659G|TTN_uc021vtb.1_Silent_p.G8534G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15958	Fibronectin type-III 9.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R15030K(1)		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)			CAACAATTTCCCCACCACCAT	0.473000														88			13		0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52338039	52338039	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:52338039C>T	uc003joy.3	+	2	426	c.283C>T	c.(283-285)Cta>Tta	p.L95L	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Silent_p.L19L|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	95					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ATGTGAAAAACTAAATTTGCA	0.378000														100			6		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118539274	118539274	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:118539274G>A	uc001ehk.2	-	32	4937	c.4869C>T	c.(4867-4869)tcC>tcT	p.S1623S	SPAG17_uc021osr.1_Silent_p.S133S	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1623						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)		GGTGCATAGAGGACAGACTAT	0.343000														54			8		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117630038	117630038	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:117630038G>A	uc003pxp.1	-	40	6687	c.6488C>T	c.(6487-6489)cCa>cTa	p.P2163L	ROS1_uc011ebi.1_Non-coding_Transcript	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2163	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGAATGAGCTGGATAAGGCTG	0.373000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									63			4		0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100920694	100920694	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:100920694G>A	uc001pgh.2	-	5	3197	c.2454C>T	c.(2452-2454)ttC>ttT	p.F818F	PGR_uc001pgg.2_Silent_p.F199F|PGR_uc001pgi.2_Silent_p.F716F|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	818	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TCATACAGAGGAACTCTTCTT	0.358000														37			8		0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137330609	137330609	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:137330609C>T	uc003qhj.3	-	3	857	c.424G>A	c.(424-426)Gtg>Atg	p.V142M	IL20RA_uc011edl.2_Missense_Mutation_p.V93M|IL20RA_uc003qhk.3_Missense_Mutation_p.V31M|IL20RA_uc010kgy.1_Intron|IL20RA_uc003qhi.3_5'Flank	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA.	142	Fibronectin type-III 2.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		GTCAGTGCCACCTCTGGTGGG	0.428000														89			10		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98164976	98164976	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:98164976G>A	uc001drv.3	-	5	748	c.611C>T	c.(610-612)tCc>tTc	p.S204F	DPYD_uc010oub.1_Non-coding_Transcript	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	204					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGCCAAAAAGGAAGCACAACT	0.393000														170			26		0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134076558	134076558	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:134076558G>A	uc001qhd.1	-	7	1558	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	318					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AGGGGGGCACGATGGGATCCT	0.413000														93			9		0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23716309	23716309	+	Missense_Mutation	SNP	C	T	T	rs149889613		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:23716309C>T	uc002dma.4	-	7	1062	c.893G>A	c.(892-894)cGa>cAa	p.R298Q	ERN2_uc010bxp.3_Missense_Mutation_p.R298Q|ERN2_uc010bxq.1_Missense_Mutation_p.R106Q	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	250					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)		CAGAGTGTCTCGAGCCAGCGT	0.672000														89			14		0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23762053	23762053	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:23762053C>T	uc003zpu.3	-	1	455	c.180G>A	c.(178-180)ggG>ggA	p.G60G	ELAVL2_uc003zps.3_Silent_p.G60G|ELAVL2_uc003zpt.3_Silent_p.G60G|ELAVL2_uc003zpv.3_Silent_p.G60G|ELAVL2_uc003zpw.3_Silent_p.G60G	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	60	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CACCAATGCTCCCAAAGAGAC	0.398000														109			14		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120924788	120924788	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:120924788G>A	uc003eec.4	+	9	1036	c.896G>A	c.(895-897)gGa>gAa	p.G299E	STXBP5L_uc011bji.2_Missense_Mutation_p.G299E	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	299					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CAAAGAGAAGGAAGAAAATCT	0.269000														28			3		0	0	1	0	0
PLS1	5357	broad.mit.edu	37	3	142408642	142408642	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:142408642G>A	uc010huv.3	+	9	1323	c.1164G>A	c.(1162-1164)atG>atA	p.M388I	PLS1_uc003euz.3_Missense_Mutation_p.M388I|PLS1_uc003eva.3_Missense_Mutation_p.M388I	NM_001145319	NP_002661	Q14651	PLSI_HUMAN	Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA.	388	Actin-binding 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						ACATCGATATGAATTTACTGG	0.368000														72			13		0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44841227	44841227	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr21:44841227A>T	uc002zdf.2	-	5	647	c.520T>A	c.(520-522)Tac>Aac	p.Y174N		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	174	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CCTGACTTGTAGAAATTCCCA	0.557000														120			9		0	0	1	0	0
ACAD8	27034	broad.mit.edu	37	11	134131179	134131179	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:134131179C>T	uc001qhk.3	+	7	913	c.852C>T	c.(850-852)tcC>tcT	p.S284S	ACAD8_uc010scp.1_Non-coding_Transcript|ACAD8_uc010scq.2_Silent_p.S207S|ACAD8_uc001qhl.3_Silent_p.S157S	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 8 (ACAD8), nuclear gene encoding mitochondrial protein, mRNA.	284					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		CTTCCTGCTCCCTGGGGGCTG	0.617000														59			6		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61528239	61528239	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:61528239G>A	uc002ydr.2	-	6	2010	c.1698C>T	c.(1696-1698)ctC>ctT	p.L566L	DIDO1_uc002yds.2_Silent_p.L566L|DIDO1_uc002ydt.2_Silent_p.L566L|DIDO1_uc002ydu.2_Silent_p.L566L	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	566					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCTTTGGCACGAGGTTTCTAG	0.572000														71			7		0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55220777	55220777	+	RNA	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:55220777G>A	uc002qgs.1	+	0		c.1177G>A			LILRP2_uc002qgt.1_Intron					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		GATGATGTGGGACGCGTGAGC	0.607000														37			5		0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52858864	52858864	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:52858864G>A	uc011bem.2	-	6	898	c.870C>T	c.(868-870)atC>atT	p.I290I	ITIH4_uc011bel.2_Silent_p.I20I|ITIH4_uc003dfy.3_Silent_p.I154I|ITIH4_uc003dfz.3_Silent_p.I290I|ITIH4_uc011ben.2_Silent_p.I290I	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	290	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTACCTGCTGGATTTTCCTGC	0.572000														86			7		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157509140	157509140	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:157509140G>A	uc009wsm.3	-	6	1296	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S	FCRL5_uc001fqu.3_Missense_Mutation_p.P380S|FCRL5_uc010phv.1_Missense_Mutation_p.P380S|FCRL5_uc010phw.1_Missense_Mutation_p.P295S|FCRL5_uc001fqv.1_Missense_Mutation_p.P380S|FCRL5_uc010phx.2_Missense_Mutation_p.P131S	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	380	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TTGAGGACAGGATGAGACACG	0.463000														53			11		0	0	1	0	0
ZNF449	203523	broad.mit.edu	37	X	134483196	134483196	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:134483196G>A	uc004eys.3	+	2	681	c.516G>A	c.(514-516)ctG>ctA	p.L172L	ZNF449_uc004eyq.1_3'UTR|ZNF449_uc004eyt.3_Silent_p.L52L	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	Homo sapiens zinc finger protein 449 (ZNF449), mRNA.	172					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CACCGGAGCTGAACTATGGTG	0.532000														76			16		0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77255316	77255316	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:77255316G>A	uc003hkb.4	-	17	2822	c.2669C>T	c.(2668-2670)tCt>tTt	p.S890F		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	890										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						AGCTTTTGTAGAGTGCTGAGT	0.378000														66			5		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	62038878	62038878	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:62038878G>A	uc001jky.3	-	2	583	c.245C>T	c.(244-246)tCc>tTc	p.S82F	ANK3_uc010qih.2_Missense_Mutation_p.S65F|ANK3_uc001jkz.4_Missense_Mutation_p.S76F|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	82					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						GCCTTCTTTGGAAGCAAGGTG	0.423000														75			4		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56467306	56467306	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:56467306G>A	uc002qmh.3	+	2	1953	c.1882G>A	c.(1882-1884)Gat>Aat	p.D628N	NLRP8_uc010etg.3_Missense_Mutation_p.D628N	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	628						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGCCCTAAATGATTATCATAA	0.458000														105			7		0	0	1	0	0
SNX20	124460	broad.mit.edu	37	16	50711342	50711342	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:50711342G>A	uc002egk.2	-	1	269	c.96C>T	c.(94-96)ccC>ccT	p.P32P	SNX20_uc010vgp.1_Silent_p.P32P|SNX20_uc002egi.3_Silent_p.P32P|SNX20_uc021thz.1_Non-coding_Transcript	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA.	32					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	p.P32H(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GCGGGAGGTCGGGGCCAGTGG	0.622000														91			7		0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143513844	143513844	+	Splice_Site	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:143513844C>T	uc003evn.3	-	4	742	c.533_splice	c.e4+1	p.G178_splice	SLC9A9_uc011bnk.2_Splice_Site_p.G52_splice	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	178					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GTCACTTACCCTATGACGATG	0.438000														92			14		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25274959	25274959	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr13:25274959C>T	uc010aaa.3	+	12	2131	c.1798C>T	c.(1798-1800)Ccg>Tcg	p.P600S	ATP12A_uc001upp.3_Missense_Mutation_p.P594S	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	594					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TATGAACTTTCCGACCTCCAA	0.488000														72			6		0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59276766	59276766	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:59276766G>A	uc001sqr.3	-	11	1611	c.1365C>T	c.(1363-1365)ctC>ctT	p.L455L	LRIG3_uc009zqh.3_Silent_p.L395L|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	455	LRRCT.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CCCACTGTGGGAGCCATTTTA	0.423000			T	ROS1	NSCLC									71			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595381	179595381	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179595381G>A	uc021vsy.1	-	57	14372	c.14147C>T	c.(14146-14148)tCa>tTa	p.S4716L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S1377L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5643	Ig-like 27.						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)			TTCACTAGCTGATATTTCTTG	0.403000														102			26		0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17837156	17837157	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:17837156_17837157GT>AA	uc003ncg.4	-	10	1267_1268	c.1107_1108AC>TT	c.(1105-1110)gaactg>gaTTtg	p.E369D	KIF13A_uc003ncf.3_Missense_Mutation_p.E369D|KIF13A_uc003nch.4_Missense_Mutation_p.E369D|KIF13A_uc003nci.4_Missense_Mutation_p.E369D|KIF13A_uc003ncj.3_Missense_Mutation_p.E45D	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	369					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCCTCCCGCAGTTCTCGGATCA	0.510000														317			14		0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97869000	97869000	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:97869000C>T	uc003dsg.1	+	0	771	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCCTCGCCTTCATGTATATGG	0.418000														43			6		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106552703	106552703	+	RNA	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:106552703G>A	uc021ser.1	-	1993		c.36555C>T								Parts of antibodies, mostly variable regions.																		TAGCCAAAAGGAAAATCCAGC	0.478000														143			15		0	0	1	0	0
FAM58BP	339521	broad.mit.edu	37	1	200183243	200183243	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:200183243G>A	uc009wzi.1	+	0	588	c.552G>A	c.(550-552)ggG>ggA	p.G184G		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	Homo sapiens family with sequence similarity 58, member B, pseudogene (FAM58BP), mRNA.	184					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			lung(1)	1						GCTACCACGGGGGGCTGTGCC	0.662000														52			13		0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48160850	48160850	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:48160850G>A	uc002xut.3	-	3	567	c.513C>T	c.(511-513)ttC>ttT	p.F171F	PTGIS_uc010zyi.2_Silent_p.F32F	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	171			F -> L (in dbSNP:rs5624).		hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	ACCTGAGCAGGAAGCTGTAGG	0.602000														79			12		0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130789735	130789735	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:130789735T>G	uc003ysr.3	-	1	981	c.99A>C	c.(97-99)ttA>ttC	p.L33F		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	33						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						CAAACTGACGTAATTTGGTGG	0.403000														166			30		0	0	1	0	0
SPOCK1	6695	broad.mit.edu	37	5	136324196	136324196	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:136324196G>A	uc003lbo.3	-	6	1034	c.843C>T	c.(841-843)atC>atT	p.I281I	SPOCK1_uc003lbp.3_Silent_p.I281I	NM_004598	NP_004589	Q08629	TICN1_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA.	281					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAAGAGGCTTGATACAGGGCT	0.493000														96			6		0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24494038	24494039	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:24494038_24494039GG>AA	uc002zzi.1	+	25	4127_4128	c.4000_4001GG>AA	c.(4000-4002)gga>AAa	p.G1334K	CABIN1_uc021wnc.1_Missense_Mutation_p.G1284K|CABIN1_uc002zzj.1_Missense_Mutation_p.G1284K|CABIN1_uc002zzl.2_Missense_Mutation_p.G1334K	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	1334					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCCGGGCCCCGGAGCCTCCCTC	0.609000														95			9		0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236738076	236738076	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:236738076G>A	uc001hyd.2	-	22	3364	c.3212C>T	c.(3211-3213)tCa>tTa	p.S1071L	HEATR1_uc009xgh.2_Intron	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	1071					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AAGGGAAACTGAAAATTCATT	0.423000														61			18		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54915017	54915017	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:54915017G>A	uc001sgc.4	+	17	1952	c.1873G>A	c.(1873-1875)Gag>Aag	p.E625K	NCKAP1L_uc010sox.2_Missense_Mutation_p.E167K|NCKAP1L_uc010soy.2_Missense_Mutation_p.E575K	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	625					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AAACCTGAGCGAGCAGGTAGA	0.547000														72			8		0	0	1	0	0
BHMT2	23743	broad.mit.edu	37	5	78378726	78378726	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:78378726G>A	uc003kft.3	+	4	604	c.545G>A	c.(544-546)gGa>gAa	p.G182E	BHMT2_uc011cth.2_Missense_Mutation_p.G118E	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase 2 (BHMT2), transcript variant 1, mRNA.	182	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GGCCCAGAGGGAGACATGCAT	0.483000														149			7		0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100235037	100235037	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:100235037C>T	uc003hus.4	-	5	853	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	ADH1B_uc003hut.4_Missense_Mutation_p.E217K|ADH1B_uc011ceh.2_Missense_Mutation_p.E102K|ADH1B_uc011cei.1_Missense_Mutation_p.E217K	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	257					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCAGTCATTTCCTTTAGCACT	0.463000														306			26		0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82880409	82880409	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:82880409C>T	uc001ozx.4	+	7	3377	c.3032C>T	c.(3031-3033)cCt>cTt	p.P1011L	PCF11_uc010rsu.1_Missense_Mutation_p.P1142L	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	1011	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TTTGAGGGTCCTTCTGTACCA	0.522000														50			6		0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4944978	4944978	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:4944978G>A	uc010qyr.2	-	0	592	c.592C>T	c.(592-594)Cac>Tac	p.H198Y		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATAGATGTGATTGACAATG	0.532000														96			5		0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129734652	129734652	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:129734652G>A	uc001qfg.3	-	24	4064	c.3943C>T	c.(3943-3945)Ccg>Tcg	p.P1315S	NFRKB_uc001qfi.3_Missense_Mutation_p.P1290S|NFRKB_uc001qfh.3_Missense_Mutation_p.P1313S|NFRKB_uc009zcr.3_Missense_Mutation_p.P576S	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	1290					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TTAGGAGACGGAGCTGTAGTC	0.542000														80			5		0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178392081	178392081	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:178392081C>T	uc003mjo.2	+	4	977	c.676C>T	c.(676-678)Cac>Tac	p.H226Y	ZNF454_uc010jkz.2_Missense_Mutation_p.H226Y|ZNF454_uc021yjc.1_Missense_Mutation_p.H226Y	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GAAAGCCTTTCACCAGAGTAC	0.373000														103			6		0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66946255	66946255	+	Missense_Mutation	SNP	C	T	T	rs147611353		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:66946255C>T	uc002eql.3	-	11	1632	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	CDH16_uc010cdy.3_Missense_Mutation_p.E480K|CDH16_uc021tjx.1_Missense_Mutation_p.E480K|CDH16_uc002eqm.3_Missense_Mutation_p.E383K	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	480	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		AAGGCGGGCTCGAGGTCAGCA	0.577000														102			16		0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88956692	88956692	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:88956692G>A	uc011khi.2	+	2	822	c.284G>A	c.(283-285)cGa>cAa	p.R95Q		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	95						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GAATTTGCTCGAAATGTAGCT	0.338000										HNSCC(36;0.09)				54			5		0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010865	59010865	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:59010865G>A	uc002qtc.2	-	6	1771	c.1661C>T	c.(1660-1662)aCc>aTc	p.T554I	SLC27A5_uc002qtb.3_5'Flank	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5), mRNA.	554					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	p.T554I(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GGACCGGAAGGTGTCCCCGAG	0.657000														46			9		0	0	1	0	0
TMEM151A	256472	broad.mit.edu	37	11	66062028	66062028	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:66062028C>T	uc001ohl.3	+	1	423	c.311C>T	c.(310-312)gCc>gTc	p.A104V		NM_153266	NP_694998	Q8N4L1	T151A_HUMAN	Homo sapiens transmembrane protein 151A (TMEM151A), mRNA.	104						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						ATCCCGCTGGCCTTCGTCTCC	0.726000														27			3		0	0	1	0	0
CDK5	1020	broad.mit.edu	37	7	150752154	150752154	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:150752154G>A	uc003wir.2	-	8	727	c.610C>T	c.(610-612)Ccc>Tcc	p.P204S	CDK5_uc022apy.1_5'Flank|CDK5_uc003wis.2_Missense_Mutation_p.P172S	NM_004935	NP_004926	Q00535	CDK5_HUMAN	Homo sapiens cyclin-dependent kinase 5 (CDK5), transcript variant 1, mRNA.	204	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	ATP binding|ErbB-2 class receptor binding|ErbB-3 class receptor binding|acetylcholine receptor activator activity|cyclin-dependent protein kinase activity|tau-protein kinase activity			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		TCATTGCCGGGAAAAAGAGGC	0.557000														48			5		0	0	1	0	0
CCL26	10344	broad.mit.edu	37	7	75399049	75399049	+	Nonsense_Mutation	SNP	T	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:75399049T>A	uc003udt.1	-	3	355	c.247A>T	c.(247-249)Aaa>Taa	p.K83*		NM_006072	NP_006063	Q9Y258	CCL26_HUMAN	Homo sapiens chemokine (C-C motif) ligand 26 (CCL26), mRNA.	83					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of Rac GTPase activity|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|signal transduction	extracellular space	chemokine activity			lung(3)	3						GAAATGTATTTTTGCACCCAT	0.438000														64			6		0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134327533	134327533	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:134327533C>T	uc010hty.3	-	9	1110	c.1048G>A	c.(1048-1050)Ggg>Agg	p.G350R	KY_uc011blw.2_Intron|KY_uc011blx.2_Missense_Mutation_p.G329R|KY_uc003eqr.1_Missense_Mutation_p.G116R	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	Homo sapiens kyphoscoliosis peptidase (KY), mRNA.	350						Z disc|cytoskeleton	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CTCAGCATCCCTTTGTTGTAG	0.507000														108			14		0	0	1	0	0
XKRX	402415	broad.mit.edu	37	X	100182964	100182964	+	Silent	SNP	A	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:100182964A>G	uc004egn.2	-	0	935	c.330T>C	c.(328-330)gtT>gtC	p.V110V	XKRX_uc011mre.1_5'UTR	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related, X-linked (XKRX), mRNA.	110						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						CTCACCTGATAACAGGTCCCA	0.423000														85			16		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641454	179641454	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179641454T>C	uc021vsy.1	-	27	5362	c.5137A>G	c.(5137-5139)Aga>Gga	p.R1713G	TTN_uc021vsz.1_Missense_Mutation_p.R1667G|TTN_uc021vta.1_Missense_Mutation_p.R1667G|TTN_uc021vtb.1_Missense_Mutation_p.R1667G|TTN_uc002unb.2_Missense_Mutation_p.R1713G|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1713	Ig-like 8.						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)			CGCTTAAGTCTTAAGGAAGTG	0.463000														74			19		0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23066214	23066214	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:23066214G>A	uc002wsv.3	-	0	764	c.616C>T	c.(616-618)Cag>Tag	p.Q206*		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	206					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTGGTGGTCTGGAAGGGGGTG	0.577000														90			7		0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204956614	204956614	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:204956614C>T	uc010prc.2	+	22	3090	c.1561C>T	c.(1561-1563)Cat>Tat	p.H521Y	NFASC_uc001hbj.3_Missense_Mutation_p.H847Y|NFASC_uc010pra.2_Missense_Mutation_p.H950Y|NFASC_uc001hbi.3_Missense_Mutation_p.H950Y|NFASC_uc010prb.2_Missense_Mutation_p.H965Y|NFASC_uc001hbk.1_Missense_Mutation_p.H760Y|NFASC_uc001hbl.2_Missense_Mutation_p.H97Y|NFASC_uc001hbm.2_5'UTR|NFASC_uc001hbn.1_5'UTR			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	954	Ig-like C2-type 6.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGAATGGGATCATCCTGAGCA	0.517000														88			5		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54803031	54803031	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:54803031C>T	uc002qfd.3	-	3	738	c.646G>A	c.(646-648)Ggg>Agg	p.G216R	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Intron	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.	215	Ig-like C2-type 2.				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)		ACCAGGAGCCCCAGGAGATCA	0.627000														57			10		0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10953844	10953844	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:10953844G>A	uc003bvz.3	+	6	995	c.961G>A	c.(961-963)Gga>Aga	p.G321R		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	321					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GACCGCTCTGGGAAGTTATAA	0.507000														124			15		0	0	1	0	0
APOBEC1	339	broad.mit.edu	37	12	7803718	7803718	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:7803718C>T	uc001qtb.3	-	3	496	c.462G>A	c.(460-462)agG>agA	p.R154R	APOBEC1_uc001qtc.3_Silent_p.R109R	NM_001644	NP_001635	P41238	ABEC1_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.	154					DNA demethylation|cytidine to uridine editing|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	RNA binding|cytidine deaminase activity|zinc ion binding	p.R154S(2)		kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TGACAAAATTCCTCCAGCAGT	0.448000														90			6		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79027122	79027122	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:79027122C>T	uc003kgc.3	+	1	2606	c.2534C>T	c.(2533-2535)tCc>tTc	p.S845F		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	845						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GGACCATCTTCCCCAGATTTG	0.468000														76			8		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86838568	86838568	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:86838568G>A	uc002blz.1	+	15	2245	c.2165G>A	c.(2164-2166)gGg>gAg	p.G722E	AGBL1_uc002bma.1_Missense_Mutation_p.G453E|AGBL1_uc002bmb.1_Missense_Mutation_p.G416E	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	722					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ACGCTGGGAGGGAATCCGTGT	0.502000														98			7		0	0	1	0	0
HSDL2	84263	broad.mit.edu	37	9	115200801	115200801	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:115200801C>T	uc004bga.2	+	6	944	c.689C>T	c.(688-690)tCc>tTc	p.S230F	HSDL2_uc004bgc.2_Missense_Mutation_p.S157F|HSDL2_uc004bgb.2_Intron|HSDL2_uc011lww.2_Missense_Mutation_p.S25F|HSDL2_uc011lwv.2_Missense_Mutation_p.S109F	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN	Homo sapiens hydroxysteroid dehydrogenase like 2 (HSDL2), transcript variant 1, mRNA.	230						peroxisome	oxidoreductase activity|sterol binding			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						GCAGCATATTCCATTTTCCAA	0.358000														47			4		0	0	1	0	0
GUCA1A	2978	broad.mit.edu	37	6	42141520	42141520	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:42141520G>A	uc003orx.3	+	2	814	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	GUCA1A_uc011duo.2_Non-coding_Transcript|GUCA1A_uc010jxt.3_Missense_Mutation_p.E57K	NM_000409	NP_000400	P43080	GUC1A_HUMAN	Homo sapiens guanylate cyclase activator 1A (retina) (GUCA1A), mRNA.	57	EF-hand 2.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCAGTACGTGGAACAGATGTT	0.587000														136			13		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37719072	37719072	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:37719072C>T	uc004aag.1	+	5	459	c.415C>T	c.(415-417)Cct>Tct	p.P139S	FRMPD1_uc004aah.1_Missense_Mutation_p.P139S|FRMPD1_uc011lqm.2_5'UTR|FRMPD1_uc011lqn.2_Missense_Mutation_p.P8S	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	139						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TCAGGGAGTCCCTAAATCGTC	0.433000														58			10		0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7843048	7843048	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:7843048C>T	uc001qte.3	-	1	557	c.521G>A	c.(520-522)tGg>tAg	p.W174*		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	174					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						ACCTTGTGGCCATGGGACTGA	0.517000														103			14		0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31312231	31312231	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:31312231C>T	uc001msv.3	-	6	1161	c.923G>A	c.(922-924)gGg>gAg	p.G308E	DCDC5_uc001msu.2_Intron	NM_181807	NP_861523	P59894	DCDC1_HUMAN	Homo sapiens doublecortin domain containing 1 (DCDC1), mRNA.	308					intracellular signal transduction			p.G308G(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AATCTCATGCCCATCCTGCCC	0.348000														64			8		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117250683	117250683	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:117250683C>T	uc003vjd.3	+	18	3231	c.3099C>T	c.(3097-3099)ttC>ttT	p.F1033F	CFTR_uc011knq.2_Silent_p.F439F	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1033	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding	p.F1033V(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GAGCATATTTCCTCCAAACCT	0.388000									Cystic Fibrosis					52			6		0	0	1	0	0
INPP5J	27124	broad.mit.edu	37	22	31524262	31524262	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:31524262C>T	uc003aju.4	+	7	2054	c.1962C>T	c.(1960-1962)ttC>ttT	p.F654F	INPP5J_uc003ajw.3_Silent_p.F90F|INPP5J_uc003ajt.4_Silent_p.F286F|INPP5J_uc003ajv.4_Silent_p.F287F|INPP5J_uc003ajs.4_Silent_p.F287F|INPP5J_uc011alk.2_Silent_p.F587F|INPP5J_uc010gwg.3_Silent_p.F219F	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	654	Catalytic (Potential).					cytoplasm|ruffle	SH3 domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CCCTCAACTTCGCTCCCACCT	0.557000														17			3		0	0	1	0	0
APOBEC1	339	broad.mit.edu	37	12	7805371	7805371	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:7805371C>T	uc001qtb.3	-	2	139	c.105G>A	c.(103-105)gaG>gaA	p.E35E	APOBEC1_uc001qtc.3_5'UTR	NM_001644	NP_001635	P41238	ABEC1_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.	35					DNA demethylation|cytidine to uridine editing|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	RNA binding|cytidine deaminase activity|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						GCAGACAGGCCTCTTTACGAA	0.458000														65			11		0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43307622	43307622	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:43307622G>A	uc003oux.3	-	9	4192	c.4114C>T	c.(4114-4116)Cct>Tct	p.P1372S	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	1372					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GTGTTAAGAGGAGCTGGCTTG	0.478000														85			5		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28992987	28992987	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr18:28992987A>T	uc002kwr.2	+	14	2744	c.2609A>T	c.(2608-2610)gAa>gTa	p.E870V	DSG4_uc002kwq.2_Missense_Mutation_p.E851V	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	851					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)			TTAAACACAGAAATTGAACCA	0.393000														147			11		0	0	1	0	0
SLC25A48	153328	broad.mit.edu	37	5	135188411	135188411	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:135188411C>T	uc003laz.1	+	3	494	c.322C>T	c.(322-324)Ctg>Ttg	p.L108L	SLC25A48_uc003lba.3_Silent_p.L108L			Q6ZT89	S2548_HUMAN	Homo sapiens solute carrier family 25, member 48 (SLC25A48), nuclear gene encoding mitochondrial protein, mRNA.	108					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						AGACCTGCTCCTGGCCAGCAT	0.657000														88			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179429054	179429054	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179429054C>T	uc021vsy.1	-	274	74326	c.74101G>A	c.(74101-74103)Gaa>Aaa	p.E24701K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E18396K|TTN_uc021vta.1_Missense_Mutation_p.E18329K|TTN_uc021vtb.1_Missense_Mutation_p.E18204K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25628	Fibronectin type-III 79.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E24700K(1)		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)			GCATCAATTTCATCTCTTGCA	0.398000														127			31		0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171486925	171486926	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:171486925_171486926CC>TT	uc010pmg.2	+	5	982_983	c.716_717CC>TT	c.(715-717)tcc>tTT	p.S239F	PRRC2C_uc001ghr.1_Missense_Mutation_p.S241F	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	239							protein C-terminus binding										GCTCTCGCTTCCCAGTATAGAG	0.436000														46			6		0	0	1	0	0
CCNL1	57018	broad.mit.edu	37	3	156867342	156867342	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:156867342G>A	uc003fbf.3	-	8	1664	c.1065C>T	c.(1063-1065)tcC>tcT	p.S355S	CCNL1_uc003fbd.1_Silent_p.S355S|CCNL1_uc003fbe.3_Silent_p.S149S|CCNL1_uc003fbg.3_Non-coding_Transcript|CCNL1_uc011bor.2_Non-coding_Transcript|CCNL1_uc003fbi.1_Silent_p.S200S	NM_020307	NP_064703	Q9UK58	CCNL1_HUMAN	Homo sapiens cyclin L1 (CCNL1), mRNA.	355					RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			TCACATTAATGGAGATTGGTG	0.383000														94			12		0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51888745	51888745	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:51888745A>G	uc001rys.1	+	20	2964	c.2786A>G	c.(2785-2787)aAg>aGg	p.K929R	SLC4A8_uc001rym.3_Missense_Mutation_p.K876R|SLC4A8_uc001ryn.3_Missense_Mutation_p.K876R|SLC4A8_uc001ryo.2_Missense_Mutation_p.K876R|SLC4A8_uc010snj.2_Missense_Mutation_p.K956R|SLC4A8_uc001ryr.3_Missense_Mutation_p.K929R	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	929					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GATCGTCTAAAGCTCTTTGGG	0.473000														90			9		0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784108	151784108	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:151784108G>A	uc003luv.2	-	0	733	c.567C>T	c.(565-567)ttC>ttT	p.F189F		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	189					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GGAAGTAGTGGAACTTGATGC	0.597000														168			17		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	32109988	32109988	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:32109988C>T	uc003tcm.2	-	0	479	c.18G>A	c.(16-18)aaG>aaA	p.K6K	PDE1C_uc003tcn.1_Silent_p.K6K|PDE1C_uc003tco.2_Intron|PDE1C_uc003tcr.3_Silent_p.K6K|PDE1C_uc003tcs.3_Silent_p.K6K	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	6					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			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)			CTTCAATCTCCTTGGTTGGCG	0.537000														73			9		0	0	1	0	0
OR2W5	441932	broad.mit.edu	37	1	247655309	247655309	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:247655309G>A	uc001icz.2	+	0	940	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ACACTTTGAGGAACAAGGATG	0.522000														136			20		0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33135275	33135275	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:33135275G>A	uc002ntn.1	-	4	637	c.481C>T	c.(481-483)Cga>Tga	p.R161*	ANKRD27_uc002nto.1_Nonsense_Mutation_p.R161*	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	Homo sapiens ankyrin repeat domain 27 (VPS9 domain) (ANKRD27), mRNA.	161				HRTFRECERKSLRHHI -> LIEHSENARERASVTT (in Ref. 4; AAQ04657).	early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CGGAATGTTCGATGGAAAGAG	0.537000														307			80		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55331425	55331425	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:55331425C>T	uc002qhl.4	+	3	676	c.613C>T	c.(613-615)Cag>Tag	p.Q205*	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Nonsense_Mutation_p.Q205*|KIR3DL2_uc010esf.3_Nonsense_Mutation_p.Q110*|KIR3DL2_uc021vbo.1_Nonsense_Mutation_p.Q205*|KIR3DL2_uc002qhk.4_Nonsense_Mutation_p.Q205*			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	205					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)		CACCCCCTATCAGTTGTCAGC	0.527000														230			12		0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20431099	20431099	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:20431099G>A	uc003suu.3	+	6	1739	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E	ITGB8_uc011jyh.2_Missense_Mutation_p.G210E|ITGB8_uc003sut.3_Missense_Mutation_p.G345E	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	345	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GCAGTTCAAGGAAAACAATTT	0.284000														26			7		0	0	1	0	0
ANKS3	124401	broad.mit.edu	37	16	4749108	4749108	+	Missense_Mutation	SNP	C	T	T	rs113252244		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:4749108C>T	uc002cxj.2	-	11	1649	c.1354G>A	c.(1354-1356)Gac>Aac	p.D452N	ANKS3_uc010uxr.2_5'UTR|ANKS3_uc002cxh.2_Non-coding_Transcript|ANKS3_uc002cxi.2_Missense_Mutation_p.D379N|ANKS3_uc021tcj.1_Missense_Mutation_p.D323N|ANKS3_uc021tck.1_Missense_Mutation_p.D345N|ANKS3_uc002cxk.3_Missense_Mutation_p.D323N|ANKS3_uc010uxs.2_Missense_Mutation_p.D379N	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 3 (ANKS3), transcript variant 1, mRNA.	452	SAM.									endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						ATGCGGAGGTCCACGTCCTGC	0.632000														59			11		0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81112829	81112829	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:81112829G>A	uc001szg.2	+	2	902	c.767G>A	c.(766-768)tGa>tAa	p.*256*		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	0					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CATGTGCTATGAACTAATTTT	0.463000														53			6		0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122756683	122756683	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:122756683C>T	uc001pym.3	+	1	423	c.126C>T	c.(124-126)tcC>tcT	p.S42S	C11orf63_uc001pyl.1_Silent_p.S42S	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	42								p.S42S(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CAAAAGACTCCTTGGAATCTG	0.453000														113			8		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321673	56321673	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:56321673C>T	uc010ygf.2	-	4	1014	c.303G>A	c.(301-303)agG>agA	p.R101R	NLRP11_uc002qlz.3_Silent_p.R2R|NLRP11_uc002qmb.3_Silent_p.R2R|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	101							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TGAATTTTCTCCTCATGACAG	0.363000														52			4		0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25027758	25027758	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr13:25027758G>A	uc001upl.3	-	22	2899	c.2793C>T	c.(2791-2793)atC>atT	p.I931I	PARP4_uc010tdc.2_Silent_p.I931I	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	931	VWFA.				DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TATTGCTTGTGATATGCTTAG	0.463000														86			11		0	0	1	0	0
CHRNA3	1136	broad.mit.edu	37	15	78894516	78894516	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:78894516C>T	uc002bec.3	-	4	969	c.468G>A	c.(466-468)aaG>aaA	p.K156K	CHRNA3_uc002beb.3_Silent_p.K156K|CHRNA3_uc002bea.3_Non-coding_Transcript	NM_000743	NP_000734	P32297	ACHA3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 3 (CHRNA3), transcript variant 1, mRNA.	156					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TACAGGAGCTCTTAAAGATGG	0.488000														122			22		0	0	1	0	0
SPDYA	245711	broad.mit.edu	37	2	29052048	29052048	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:29052048G>A	uc002rmj.3	+	5	621	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	SPDYA_uc002rmi.3_Missense_Mutation_p.E139K|SPDYA_uc002rmk.3_Missense_Mutation_p.E139K|SPDYA_uc002rml.3_Missense_Mutation_p.E139K	NM_182756	NP_877433	Q5MJ70	SPDYA_HUMAN	Homo sapiens speedy homolog A (Xenopus laevis) (SPDYA), transcript variant 1, mRNA.	139	Speedy/Ringo box; Required for CDK- binding (By similarity).				G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					AGATGAAGAAGAAACCAAGTA	0.368000														44			7		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167263132	167263132	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:167263132C>T	uc002udu.2	-	24	4137	c.4007G>A	c.(4006-4008)gGa>gAa	p.G1336E	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1336					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AAGGTAGGATCCTACTGTCAT	0.408000														124			8		0	0	1	0	0
SBNO2	22904	broad.mit.edu	37	19	1127626	1127626	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:1127626G>A	uc002lrk.4	-	4	656	c.418C>T	c.(418-420)Cct>Tct	p.P140S	SBNO2_uc002lrj.4_Missense_Mutation_p.P83S|SBNO2_uc010dse.3_Missense_Mutation_p.P133S|SBNO2_uc010dsf.3_Missense_Mutation_p.P83S	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.	140					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		GAGGGGGCAGGGTTATCGTCC	0.682000														62			6		0	0	1	0	0
SUGP1	57794	broad.mit.edu	37	19	19414630	19414630	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:19414630G>A	uc002nmh.3	-	4	581	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W	SUGP1_uc002nmf.3_5'Flank|SUGP1_uc002nmg.3_5'UTR|SUGP1_uc002nmi.3_5'UTR|SUGP1_uc002nmj.3_5'UTR|SUGP1_uc010xqr.2_Non-coding_Transcript|SUGP1_uc010xqs.2_Intron	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	Homo sapiens SURP and G patch domain containing 1 (SUGP1), mRNA.	189					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						ATCACTTTCCGAGTCTCGGCT	0.517000														306			42		0	0	1	0	0
SGCA	6442	broad.mit.edu	37	17	48244987	48244987	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:48244987G>A	uc002iqi.3	+	2	238	c.202G>A	c.(202-204)Gga>Aga	p.G68R	SGCA_uc010wmh.1_Intron|SGCA_uc002iqj.3_Missense_Mutation_p.G68R|SGCA_uc010wmi.2_Non-coding_Transcript	NM_000023	NP_000014	Q16586	SGCA_HUMAN	Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA.	68			G -> E (in LGMD2D).		muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	p.G68E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CCACCTCCAGGGACACCCAGA	0.672000														66			4		0	0	1	0	0
PBXIP1	57326	broad.mit.edu	37	1	154918536	154918536	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:154918536C>T	uc001ffr.3	-	9	1673	c.1614G>A	c.(1612-1614)ccG>ccA	p.P538P	PBXIP1_uc001ffs.3_Silent_p.P509P|PBXIP1_uc010pep.2_Silent_p.P383P	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA.	538					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	p.P538Q(1)		breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGGTTCCTTCGGGCCCTGTC	0.622000														220			11		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164709981	164709981	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:164709981C>T	uc003fei.3	-	42	5030	c.4967G>A	c.(4966-4968)tGg>tAg	p.W1656*		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1656	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTAGTCAAACCACCGAGCATT	0.353000										HNSCC(35;0.089)				166			18		0	0	1	0	0
TOP1	7150	broad.mit.edu	37	20	39750765	39750765	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:39750765A>G	uc002xjl.3	+	19	2411	c.2165A>G	c.(2164-2166)aAt>aGt	p.N722S	BC035080_uc002xjn.1_Intron	NM_003286	NP_003277	P11387	TOP1_HUMAN	Homo sapiens topoisomerase (DNA) I (TOP1), mRNA.	722			N -> S (in CPT-resistant leukemia).		DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	TCCAAACTCAATTATCTGGAC	0.507000			T	NUP98	AML*									113			7		0	0	1	0	0
OCEL1	79629	broad.mit.edu	37	19	17339705	17339705	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:17339705G>A	uc002nfp.3	+	5	768	c.766G>A	c.(766-768)Gga>Aga	p.G256R		NM_024578	NP_078854	Q9H607	OCEL1_HUMAN	Homo sapiens occludin/ELL domain containing 1 (OCEL1), mRNA.	256										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						CGATGACCAAGGAGACAGCGA	0.542000														78			13		0	0	1	0	0
FAM75A6	389730	broad.mit.edu	37	9	43624950	43624950	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:43624950T>C	uc011lrb.2	-	3	3766	c.3737A>G	c.(3736-3738)cAc>cGc	p.H1246R		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	1246						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						GAGGTGCCTGTGGTTGCAGGG	0.512000														450			15		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47991229	47991229	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:47991229G>A	uc002xur.1	-	1	1034	c.868C>T	c.(868-870)Cag>Tag	p.Q290*	KCNB1_uc002xus.1_Nonsense_Mutation_p.Q290*	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	290					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)			CGGACATTCTGGAATTGCAGC	0.532000														89			6		0	0	1	0	0
LRRC56	115399	broad.mit.edu	37	11	541605	541605	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:541605G>A	uc010qvz.2	+	4	751	c.246G>A	c.(244-246)gaG>gaA	p.E82E		NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN	Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA.	82										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACACTCGTGAGGGCAGCCTGG	0.632000														39			6		0	0	1	0	0
OR2H2	7932	broad.mit.edu	37	6	29555739	29555739	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:29555739C>T	uc003nmr.1	+	0	57	c.18C>T	c.(16-18)tcC>tcT	p.S6S	GABBR1_uc003nmp.4_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 2 (OR2H2), mRNA.	6					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						ACCAAAGCTCCACACCGGGCT	0.532000														152			7		0	0	1	0	0
STEAP4	79689	broad.mit.edu	37	7	87912006	87912006	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:87912006G>A	uc022agz.1	-	3	1157	c.934C>T	c.(934-936)Cct>Tct	p.P312S	STEAP4_uc003ujs.3_Missense_Mutation_p.P312S|STEAP4_uc010lek.3_Intron	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	312	Ferric oxidoreductase.				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					TATCGAATAGGAATCACAAGT	0.428000														95			7		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594419	140594419	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:140594419G>A	uc003lja.1	+	0	911	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	242	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.P241L(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAATGCCCCTGAATTTGAGCA	0.527000														226			24		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241705143	241705143	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:241705143G>A	uc010fzk.3	-	19	1999	c.1752C>T	c.(1750-1752)ccC>ccT	p.P584P	KIF1A_uc002vzy.3_Silent_p.P575P|KIF1A_uc002vzz.2_Silent_p.P584P	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	575					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCAGGATGCTGGGCTCTGTGA	0.622000														34			5		0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30919055	30919055	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:30919055C>T	uc002wxq.3	+	8	2357	c.2177C>T	c.(2176-2178)tCc>tTc	p.S726F	KIF3B_uc010ztw.2_Missense_Mutation_p.S664F	NM_004798	NP_004789	O15066	KIF3B_HUMAN	Homo sapiens kinesin family member 3B (KIF3B), mRNA.	726	Globular.|Poly-Ser.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCGGGATCCTCCTCCTCTTCC	0.502000														57			7		0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110459748	110459748	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:110459748G>A	uc010npv.1	+	14	1642	c.1615G>A	c.(1615-1617)Gat>Aat	p.D539N	PAK3_uc010npt.1_Missense_Mutation_p.D503N|PAK3_uc010npu.1_Missense_Mutation_p.D503N|PAK3_uc004eoy.1_Missense_Mutation_p.D258N|PAK3_uc004eoz.2_Missense_Mutation_p.D503N|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Missense_Mutation_p.D524N|PAK3_uc004epa.2_Missense_Mutation_p.D518N	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	518					multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity	p.A538T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TCTTGAGATGGATGTGGATAG	0.428000										TSP Lung(19;0.15)				36			13		0	0	1	0	0
ABHD14B	84836	broad.mit.edu	37	3	52004126	52004126	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:52004126C>T	uc003dcm.3	-	2	1174	c.286G>A	c.(286-288)Gtg>Atg	p.V96M	PCBP4_uc003dcj.2_5'Flank|PCBP4_uc003dck.2_5'Flank|PCBP4_uc003dch.2_5'Flank|PCBP4_uc003dci.2_5'Flank|ABHD14B_uc011bdy.2_Missense_Mutation_p.V96M|ABHD14B_uc021wza.1_Missense_Mutation_p.V58M|ABHD14B_uc003dcn.3_Missense_Mutation_p.V96M|ABHD14B_uc011bdz.1_Missense_Mutation_p.V96M	NM_032750	NP_116139	Q96IU4	ABHEB_HUMAN	Homo sapiens abhydrolase domain containing 14B (ABHD14B), transcript variant 1, mRNA.	96						cytoplasm|nucleus	hydrolase activity			large_intestine(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000548)|KIRC - Kidney renal clear cell carcinoma(197;0.00072)		GCATCCACCACAGCCGCCAGG	0.647000														81			18		0	0	1	0	0
WDR85	92715	broad.mit.edu	37	9	140459359	140459359	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:140459359G>A	uc004cnk.1	-	6	920	c.762C>T	c.(760-762)atC>atT	p.I254I	WDR85_uc004cnj.1_5'UTR|WDR85_uc004cnm.1_Silent_p.I15I|WDR85_uc010ncl.1_Silent_p.I15I	NM_138778	NP_620133	Q9BTV6	WDR85_HUMAN	Homo sapiens WD repeat domain 85 (WDR85), mRNA.	254					peptidyl-diphthamide biosynthetic process from peptidyl-histidine					breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	8	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509)		CCGTGGCCAGGATGTGCTCCC	0.642000														12			3		0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52967233	52967233	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:52967233C>T	uc001sap.1	-	0	377	c.329G>A	c.(328-330)gGg>gAg	p.G110E		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	110	Gly-rich.|Head.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GTGGATGCCCCCAGGTGGGCA	0.642000														106			15		0	0	1	0	0
ZFX	7543	broad.mit.edu	37	X	24197773	24197773	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:24197773G>A	uc011mjv.2	+	4	898	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	ZFX_uc004dbd.2_Missense_Mutation_p.E178K|ZFX_uc004dbf.3_Missense_Mutation_p.E178K|ZFX_uc004dbe.3_Missense_Mutation_p.E178K|ZFX_uc022bua.1_Missense_Mutation_p.E178K|ZFX_uc010nfx.2_Intron|ZFX_uc010nfy.1_Missense_Mutation_p.E178K	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CGTAGTTTCAGAAGAAGTATT	0.463000														126			22		0	0	1	0	0
OR4N3P	390539	broad.mit.edu	37	15	22414312	22414312	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:22414312C>T	uc001yuf.3	+	0	851	c.611C>T	c.(610-612)cCt>cTt	p.P204L	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		TTGTTGAATCCTGTCATTTAT	0.408000														203			11		0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85445563	85445563	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:85445563G>A	uc010rth.2	-	5	1195	c.806C>T	c.(805-807)cCg>cTg	p.P269L	SYTL2_uc010rtg.2_Missense_Mutation_p.P270L|SYTL2_uc010rti.2_Missense_Mutation_p.P269L|SYTL2_uc010rtj.2_Missense_Mutation_p.P221L|SYTL2_uc001pbf.4_Missense_Mutation_p.P269L|SYTL2_uc010rtf.2_Missense_Mutation_p.P127L	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	269					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GATCCCTCTCGGAGCCCCTCT	0.438000														180			9		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12476719	12476719	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:12476719C>T	uc001atv.3	+	64	12313	c.12172C>T	c.(12172-12174)Ctc>Ttc	p.L4058F	VPS13D_uc001atw.3_Missense_Mutation_p.L4033F|VPS13D_uc001atx.3_Missense_Mutation_p.L3245F|VPS13D_uc009vnl.3_Non-coding_Transcript|VPS13D_uc010obd.2_Missense_Mutation_p.L56F	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	4057					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCAGGAACTCCTCAGCCAGGC	0.428000														72			6		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91791183	91791183	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:91791183C>T	uc010aty.3	-	11	1436	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	428					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGGGCAGATTCGTTCATGCTC	0.572000														89			7		0	0	1	0	0
XYLB	9942	broad.mit.edu	37	3	38411589	38411589	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:38411589C>T	uc003cic.2	+	8	798	c.689C>T	c.(688-690)tCc>tTc	p.S230F	XYLB_uc011ayp.1_Missense_Mutation_p.S93F|XYLB_uc003cid.1_Missense_Mutation_p.S152F	NM_005108	NP_005099	O75191	XYLB_HUMAN	Homo sapiens xylulokinase homolog (H. influenzae) (XYLB), mRNA.	230					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		AAAGTCTGGTCCCAGGCTTGC	0.453000														158			36		0	0	1	0	0
ZNF557	79230	broad.mit.edu	37	19	7083460	7083460	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:7083460C>T	uc002mga.3	+	7	1483	c.998C>T	c.(997-999)tCg>tTg	p.S333L	ZNF557_uc002mgb.3_Missense_Mutation_p.S326L|ZNF557_uc002mgc.3_Missense_Mutation_p.S333L	NM_024341	NP_077317	Q8N988	ZN557_HUMAN	Homo sapiens zinc finger protein 557 (ZNF557), transcript variant 1, mRNA.	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		AGGAGGAGGTCGAATCTGACA	0.448000														111			15		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2814101	2814101	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:2814101C>T	uc002crk.3	+	10	4121	c.3572C>T	c.(3571-3573)cCa>cTa	p.P1191L	SRRM2_uc002crj.1_Missense_Mutation_p.P1095L|SRRM2_uc002crl.1_Missense_Mutation_p.P1191L|SRRM2_uc010bsu.1_Missense_Mutation_p.P1095L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1191	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGTCCCTTTCCAGTACAGGAT	0.468000														172			27		0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47246067	47246067	+	Silent	SNP	G	A	A	rs41283544	byFrequency	TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:47246067G>A	uc002xtw.1	-	36	4709	c.4686C>T	c.(4684-4686)gcC>gcT	p.A1562A	PREX1_uc021wer.1_5'Flank|PREX1_uc002xtv.1_Silent_p.A859A	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	1562					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGATGAGGCCGGCGCCCACAC	0.642000														105			6		0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52472963	52472963	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:52472963G>A	uc003dea.1	-	12	1482	c.1482C>T	c.(1480-1482)atC>atT	p.I494I		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	494	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CCATTTCGGTGATAGGTGTTG	0.617000														193			24		0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62739405	62739406	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:62739405_62739406CC>TT	uc003dll.2	-	2	958_959	c.598_599GG>AA	c.(598-600)gga>AAa	p.G200K	CADPS_uc003dlm.2_Missense_Mutation_p.G200K|CADPS_uc003dln.2_Missense_Mutation_p.G200K|CADPS_uc021wzv.1_Missense_Mutation_p.G200K	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	200					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GGAACAGCCTCCACTCTGAACC	0.559000														56			5		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228148965	228148965	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:228148965A>G	uc002vom.2	+	33	2947	c.2785A>G	c.(2785-2787)Acc>Gcc	p.T929A	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	929	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCAGAGAGGAACCCCAGGAGC	0.483000														45			10		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10603527	10603527	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:10603527C>G	uc010rcc.1	-	18	2633	c.2247G>C	c.(2245-2247)aaG>aaC	p.K749N	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|MRVI1_uc010rcb.1_Missense_Mutation_p.K741N|MRVI1_uc001miw.2_Missense_Mutation_p.K740N|MRVI1_uc001mix.3_Missense_Mutation_p.K434N|MRVI1_uc001miz.2_Missense_Mutation_p.K658N|MRVI1_uc010rcd.1_Missense_Mutation_p.K543N|MRVI1_uc009ygd.1_Missense_Mutation_p.K434N|MRVI1_uc010rce.1_Non-coding_Transcript	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	722	Glu-rich.				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CCCCATTTGTCTTTCCACTAG	0.507000														76			6		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78513168	78513168	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:78513168C>T	uc001syp.3	+	14	3365	c.3192C>T	c.(3190-3192)tcC>tcT	p.S1064S	NAV3_uc001syo.3_Silent_p.S1064S|NAV3_uc010sub.2_Silent_p.S564S|NAV3_uc009zsf.3_Silent_p.S72S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1064	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCACCAGCTCCTTTGGCTTTA	0.483000										HNSCC(70;0.22)				134			16		0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515725	51515725	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:51515725G>A	uc010ric.2	+	0	444	c.444G>A	c.(442-444)atG>atA	p.M148I		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TGGTGTGGATGGGAGGCTTTC	0.458000														170			19		0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70417686	70417686	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr18:70417686G>A	uc002lkw.3	-	8	1436	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	NETO1_uc002lky.2_Silent_p.F384F	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	384					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATACCTCCTGGAAAACTGTCT	0.428000														108			6		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106811068	106811068	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:106811068G>A	uc003ymd.3	+	6	879	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	ZFPM2_uc011lhs.2_Missense_Mutation_p.E17K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	286					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GGTGTCAGAGGAAAATGAAGA	0.517000														126			32		0	0	1	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15437502	15437502	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:15437502C>T	uc003gno.3	+	1	415	c.156C>T	c.(154-156)ccC>ccT	p.P52P	C1QTNF7_uc011bxb.2_Silent_p.P45P|C1QTNF7_uc003gnp.3_Silent_p.P45P	NM_001135170	NP_114117	Q9BXJ2	C1QT7_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 7 (C1QTNF7), transcript variant 1, mRNA.	45	Collagen-like.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						CTCCAGGGCCCCCTGGAGCAA	0.567000														63			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064480	9064480	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:9064480C>T	uc002mkp.3	-	2	23170	c.22966G>A	c.(22966-22968)Gga>Aga	p.G7656R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7658	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGGAAATCCCTGAATTACT	0.507000														51			13		0	0	1	0	0
COX7B2	170712	broad.mit.edu	37	4	46737015	46737015	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:46737015C>T	uc003gxf.3	-	2	375	c.195G>A	c.(193-195)tgG>tgA	p.W65*	COX7B2_uc010ige.3_Non-coding_Transcript|COX7B2_uc021xny.1_Nonsense_Mutation_p.W65*	NM_130902	NP_570972	Q8TF08	CX7B2_HUMAN	Homo sapiens cytochrome c oxidase subunit VIIb2 (COX7B2), mRNA.	65						integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			large_intestine(1)|lung(4)	5						GGGATAGGTTCCATTCTATTC	0.408000														78			12		0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41574341	41574341	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:41574341A>T	uc003azl.4	+	30	7021	c.6626A>T	c.(6625-6627)aAc>aTc	p.N2209I		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	2209	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GCCAACCATAACCAGTTCCAG	0.527000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					98			9		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52359645	52359645	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:52359645C>T	uc003xqu.4	-	11	1545	c.1444G>A	c.(1444-1446)Gat>Aat	p.D482N		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	482	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGGCCTTGATCGTGCTGTGCT	0.473000														130			42		0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7493115	7493115	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:7493115G>A	uc003src.1	-	16	1513	c.1396C>T	c.(1396-1398)Cct>Tct	p.P466S	COL28A1_uc011jxe.1_Missense_Mutation_p.P149S|COL28A1_uc003srd.3_Missense_Mutation_p.P21S	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	466					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TGTGGACCAGGTGGACCAATA	0.368000														139			6		0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014710	75014710	+	Silent	SNP	T	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:75014710T>G	uc002ayp.4	-	1	851	c.729A>C	c.(727-729)ctA>ctC	p.L243L	CYP1A1_uc010bjy.3_Silent_p.L243L|CYP1A1_uc010bju.3_5'UTR|CYP1A1_uc010bjv.3_Intron|CYP1A1_uc010bjw.3_Intron|CYP1A1_uc010bjx.3_Intron|CYP1A1_uc002ayq.4_Silent_p.L243L|CYP1A1_uc010bjz.1_5'UTR	NM_000499	NP_000490	P04798	CP1A1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA.	243					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	AAGGGTTGGGTAGGTAGCGAA	0.473000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					71			13		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92797125	92797125	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr13:92797125C>T	uc010tif.2	+	6	1810	c.1444C>T	c.(1444-1446)Ctt>Ttt	p.L482F		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	482						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GTGGGAACTTCTTCAGCTGGG	0.443000														72			5		0	0	1	0	0
C19orf26	255057	broad.mit.edu	37	19	1235004	1235004	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:1235004G>A	uc002lrm.2	-	4	708	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C		NM_152769	NP_689982	Q8N350	DOS_HUMAN	Homo sapiens chromosome 19 open reading frame 26 (C19orf26), mRNA.	145						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		GCTTACCGGCGACCCTTGTCC	0.701000										HNSCC(14;0.022)				31			3		0	0	1	0	0
NUCB2	4925	broad.mit.edu	37	11	17316991	17316991	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:17316991G>A	uc001mmw.3	+	2	366	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	NUCB2_uc001mms.1_Missense_Mutation_p.E42K|NUCB2_uc001mmt.1_Missense_Mutation_p.E41K|NUCB2_uc009ygw.1_Non-coding_Transcript|NUCB2_uc001mmv.1_Missense_Mutation_p.E41K|NUCB2_uc009ygx.1_Non-coding_Transcript|NUCB2_uc009ygy.1_Missense_Mutation_p.E41K|NUCB2_uc009ygz.3_Missense_Mutation_p.E41K	NM_005013	NP_005004	P80303	NUCB2_HUMAN	Homo sapiens nucleobindin 2 (NUCB2), mRNA.	41						ER-Golgi intermediate compartment|Golgi apparatus|cytosol|extracellular space|plasma membrane	DNA binding|calcium ion binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TCACCCTGTGGAAAGTGCGAA	0.343000														160			10		0	0	1	0	0
KIAA1274	27143	broad.mit.edu	37	10	72292520	72292520	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:72292520C>T	uc001jrd.4	+	5	1058	c.777C>T	c.(775-777)ttC>ttT	p.F259F		NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	259										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						GGCCCCTCTTCCTGCAGCCCA	0.632000														105			13		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93778992	93778992	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:93778992G>A	uc001pep.2	+	1	481	c.324G>A	c.(322-324)gtG>gtA	p.V108V		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	108	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GGGCCGAAGTGGGTGATGTGA	0.463000														38			6		0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42079802	42079803	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:42079802_42079803GG>AA	uc011kbh.2	-	6	953_954	c.862_863CC>TT	c.(862-864)ccg>TTg	p.P288L	GLI3_uc011kbg.2_Missense_Mutation_p.P229L	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	288					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						TTTTCGGCTCGGCCTGGCTGAC	0.470000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					129			9		0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95734736	95734737	+	Silent	DNP	GG	AA	AA			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:95734736_95734737GG>AA	uc003kls.2	-	10	1673_1674	c.1434_1435CC>TT	c.(1432-1437)gccctg>gcTTtg	p.478_479AL>AL	PCSK1_uc010jbi.2_Silent_p.168_169AL>AL|PCSK1_uc021ybq.1_Silent_p.431_432AL>AL	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	478					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTAGCTTTCAGGGCTCTAAATA	0.361000														35			4		0	0	1	0	0
PSMA4	5685	broad.mit.edu	37	15	78841204	78841204	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:78841204A>T	uc002bdu.4	+	8	862	c.704A>T	c.(703-705)cAg>cTg	p.Q235L	PSMA4_uc010blf.3_Missense_Mutation_p.Q235L|PSMA4_uc002bdv.4_Missense_Mutation_p.Q164L|PSMA4_uc002bdw.4_Missense_Mutation_p.Q211L|PSMA4_uc002bdx.4_Missense_Mutation_p.Q164L	NM_002789	NP_001096138	P25789	PSA4_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 4 (PSMA4), transcript variant 1, mRNA.	235					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|interspecies interaction between organisms|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	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GAAGTGGAGCAGTTGATCAAA	0.328000														69			10		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157691406	157691406	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:157691406C>T	uc003wno.3	-	11	1868	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K	PTPRN2_uc003wnp.3_Missense_Mutation_p.E566K|PTPRN2_uc003wnq.3_Missense_Mutation_p.E554K|PTPRN2_uc003wnr.3_Missense_Mutation_p.E545K|PTPRN2_uc011kwa.2_Missense_Mutation_p.E606K	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	583						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CCAGAGGTTTCCTCCAGTTTG	0.512000														214			46		0	0	1	0	0
C10orf2	56652	broad.mit.edu	37	10	102748263	102748263	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:102748263C>T	uc001ksf.2	+	0	971	c.296C>T	c.(295-297)tCc>tTc	p.S99F	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksg.2_Missense_Mutation_p.S99F|C10orf2_uc001ksi.2_Intron|C10orf2_uc021pxb.1_Non-coding_Transcript	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA.	99					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GTTACCACTTCCTTCAGCCTC	0.582000														167			18		0	0	1	0	0
GARNL3	84253	broad.mit.edu	37	9	130149584	130149584	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:130149584C>T	uc011mae.2	+	24	2902	c.2501C>T	c.(2500-2502)cCa>cTa	p.P834L	GARNL3_uc011mad.2_Missense_Mutation_p.P812L|GARNL3_uc010mxi.3_Missense_Mutation_p.P64L	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	Homo sapiens GTPase activating Rap/RanGAP domain-like 3 (GARNL3), mRNA.	834					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						CGAGATACTCCAGTATTTCCT	0.458000														48			8		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130285586	130285586	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:130285586C>T	uc010htl.3	+	3	1354	c.1323C>T	c.(1321-1323)atC>atT	p.I441I		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	441	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATCTGCTTATCGATGGCTCAG	0.473000														69			5		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123419371	123419371	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:123419371G>A	uc003ego.3	-	17	3226	c.2944C>T	c.(2944-2946)Cgc>Tgc	p.R982C	MYLK_uc011bjw.2_Missense_Mutation_p.R982C|MYLK_uc003egp.3_Missense_Mutation_p.R913C|MYLK_uc003egq.3_Missense_Mutation_p.R982C|MYLK_uc003egr.3_Missense_Mutation_p.R913C|MYLK_uc003egs.3_Missense_Mutation_p.R806C|MYLK_uc003egt.3_Missense_Mutation_p.R173C	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	982	5 X 28 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGCACTGAGCGAAAATCCGGG	0.587000														118			14		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102043085	102043085	+	Missense_Mutation	SNP	G	A	A	rs147400257		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:102043085G>A	uc001tii.3	+	12	1309	c.1169G>A	c.(1168-1170)cGa>cAa	p.R390Q	MYBPC1_uc001tif.2_Missense_Mutation_p.R403Q|MYBPC1_uc001tig.3_Missense_Mutation_p.R415Q|MYBPC1_uc010svr.2_Missense_Mutation_p.R390Q|MYBPC1_uc010svs.2_Missense_Mutation_p.R390Q|MYBPC1_uc001tij.3_Missense_Mutation_p.R390Q|MYBPC1_uc010svt.2_Missense_Mutation_p.R378Q|MYBPC1_uc010svu.2_Missense_Mutation_p.R371Q|MYBPC1_uc001tik.3_Missense_Mutation_p.R364Q|MYBPC1_uc001tih.3_Missense_Mutation_p.R415Q|MYBPC1_uc010svq.2_Missense_Mutation_p.R377Q	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	390	Ig-like C2-type 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TCAAGATACCGAATTAGAGTT	0.348000														113			11		0	0	1	0	0
AAMP	14	broad.mit.edu	37	2	219131647	219131647	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:219131647C>G	uc002vhl.3	-	3	544	c.460G>C	c.(460-462)Gac>Cac	p.D154H	AAMP_uc002vhk.3_Missense_Mutation_p.D153H	NM_001087	NP_001078	Q13685	AAMP_HUMAN	Homo sapiens angio-associated, migratory cell protein (AAMP), mRNA.	153					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACTCATGTCCCCTGTGGCC	0.507000														81			13		0	0	1	0	0
KCNMB2	10242	broad.mit.edu	37	3	178546111	178546111	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:178546111G>A	uc003fjd.3	+	3	716	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	AF279780_uc003fjb.1_Intron|AF279780_uc003fjc.1_Intron|KCNMB2_uc003fje.3_Missense_Mutation_p.E125K|KCNMB2_uc003fjf.3_Missense_Mutation_p.E125K|KCNMB2_uc011bqa.2_Intron|KCNMB2_uc011bqb.2_Intron	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 2 (KCNMB2), transcript variant 1, mRNA.	125					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			TTCTTCCGGGGAAAAGCTCCT	0.478000														42			12		0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150348631	150348631	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:150348631C>T	uc010ntg.2	+	1	714	c.576C>T	c.(574-576)atC>atT	p.I192I	GPR50_uc011myc.2_Silent_p.I192I	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	192					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTTACCATCGTCTGCATCC	0.547000														105			17		0	0	1	0	0
MAP2K1	5604	broad.mit.edu	37	15	66727455	66727455	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:66727455G>T	uc010bhq.3	+	1	646	c.171G>T	c.(169-171)aaG>aaT	p.K57N	MAP2K1_uc010ujp.2_Missense_Mutation_p.K35N	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 1 (MAP2K1), mRNA.	57					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|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	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K57N(3)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						TTACCCAGAAGCAGAAGGTGG	0.542000														229			23		1.10513e-12	1.12462e-12	1	1	0
COL6A3	1293	broad.mit.edu	37	2	238277271	238277271	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:238277271G>A	uc002vwl.2	-	9	5120	c.4835C>T	c.(4834-4836)tCg>tTg	p.S1612L	COL6A3_uc002vwo.2_Missense_Mutation_p.S1406L|COL6A3_uc010znj.1_Missense_Mutation_p.S1005L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1612	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGGTCCAAACGAGTTCATGAT	0.552000														125			17		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236914838	236914838	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:236914838C>T	uc001hyf.2	+	14	1929	c.1725C>T	c.(1723-1725)atC>atT	p.I575I	ACTN2_uc001hyg.2_Silent_p.I367I|ACTN2_uc009xgi.1_Silent_p.I575I|ACTN2_uc010pxu.1_Silent_p.I264I	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	575					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GGCAGTCCATCATGGCCATCC	0.547000														59			18		0	0	1	0	0
CCR5	1234	broad.mit.edu	37	3	46415026	46415026	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:46415026C>T	uc003cpo.4	+	2	755	c.633C>T	c.(631-633)gtC>gtT	p.V211V	CCR5_uc010hjd.3_Silent_p.V211V|CCR5_uc021wxb.1_Silent_p.V211V	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	211					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	TTGTCATGGTCATCTGCTACT	0.448000														340			54		0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87060836	87060836	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:87060836C>T	uc011lfy.2	-	2	1013	c.1013G>A	c.(1012-1014)cGa>cAa	p.R338Q		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	338							ATP binding|protein serine/threonine kinase activity	p.R338Q(2)|p.R338R(1)		NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CATGAGGTTTCGGGATATGGC	0.547000														89			27		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13769675	13769675	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:13769675C>T	uc003jfd.2	-	56	9697	c.9655G>A	c.(9655-9657)Gcc>Acc	p.A3219T	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3219	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A3218V(1)		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)					TTACTCAAGGCTGCAACAGAC	0.433000									Kartagener syndrome					162			21		0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99672416	99672416	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:99672416C>T	uc002bup.3	+	4	3968	c.3848C>T	c.(3847-3849)tCa>tTa	p.S1283L	SYNM_uc002buo.3_Intron|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	1284	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GCTCCACTTTCAGACAAGGTG	0.527000														142			21		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163693078	163693078	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:163693078C>T	uc002uch.2	-	1	505	c.276G>A	c.(274-276)agG>agA	p.R92R	KCNH7_uc002uci.3_Silent_p.R92R	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	92	PAC.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CCTCCACTTTCCTCTCTTCTG	0.418000														41			9		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23902902	23902902	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:23902902G>A	uc001wjx.3	-	2	146	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	14	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CGCAGGTAGGGGGCGGCAGCC	0.577000														78			5		0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140630866	140630866	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:140630866C>T	uc003yvf.1	-	1	824	c.760G>A	c.(760-762)Gag>Aag	p.E254K	KCNK9_uc003yvg.1_Missense_Mutation_p.E254K|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	254						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			TCCCGCCGCTCATCCTCACTG	0.597000														81			9		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138177	126138177	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:126138177C>T	uc001uhe.1	+	8	2166	c.2158C>T	c.(2158-2160)Cct>Tct	p.P720S	TMEM132B_uc001uhf.1_Missense_Mutation_p.P232S	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	720						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CATTTACGATCCTAAGGATTA	0.403000														115			7		0	0	1	0	0
SH2D1B	117157	broad.mit.edu	37	1	162381743	162381743	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:162381743C>T	uc001gbz.1	-	0	186	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	SH2D1B_uc001gca.1_Missense_Mutation_p.E22K	NM_053282	NP_444512	O14796	SH21B_HUMAN	Homo sapiens SH2 domain containing 1B (SH2D1B), mRNA.	22	SH2.									kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCCACCCCTTCCTTGAGCAGC	0.527000														91			21		0	0	1	0	0
FBLN5	10516	broad.mit.edu	37	14	92353643	92353643	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:92353643A>C	uc010aue.3	-	7	1229	c.756T>G	c.(754-756)tgT>tgG	p.C252W	FBLN5_uc010aud.3_Missense_Mutation_p.C216W|FBLN5_uc001xzx.4_Missense_Mutation_p.C211W	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	211	EGF-like 5; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	p.S252S(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TCTCGGTGGCACACTCGTTCA	0.512000														150			7		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75853084	75853084	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:75853084C>T	uc021zbv.1	-	24	4746	c.4711G>A	c.(4711-4713)Gat>Aat	p.D1571N	COL12A1_uc021zbw.1_Missense_Mutation_p.D407N|COL12A1_uc003phs.3_Missense_Mutation_p.D1571N|COL12A1_uc003pht.3_Missense_Mutation_p.D407N	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1571	Fibronectin type-III 11.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGTTTCAGATCCTGAGGTCTG	0.428000														64			4		0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27457472	27457472	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:27457472G>A	uc003xfy.2	-	6	1169	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F	CLU_uc003xfw.2_Missense_Mutation_p.S330F|CLU_uc003xfx.2_Missense_Mutation_p.S330F|CLU_uc003xfz.2_Missense_Mutation_p.S330F	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	330					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding	p.S382Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GACCTGGAGGGATTCGTCGAG	0.557000														35			8		0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42198129	42198129	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:42198129C>T	uc002xkv.3	+	4	732	c.513C>T	c.(511-513)ttC>ttT	p.F171F	SGK2_uc002xkr.3_Silent_p.F111F|SGK2_uc010ggm.3_Silent_p.F111F|SGK2_uc002xkt.3_Non-coding_Transcript|SGK2_uc002xku.3_Silent_p.F111F|SGK2_uc002xkq.1_Silent_p.F111F	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA.	171	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGCTCTACTTCGTGCTCGACT	0.632000														41			14		0	0	1	0	0
PRRT3	285368	broad.mit.edu	37	3	9991677	9991677	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:9991677C>T	uc003bul.2	-	1	253	c.123G>A	c.(121-123)atG>atA	p.M41I	CIDEC_uc003bto.3_Intron|PRRT3_uc003buk.2_Non-coding_Transcript|PRRT3_uc003bum.3_Missense_Mutation_p.M41I	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN	Homo sapiens proline-rich transmembrane protein 3 (PRRT3), mRNA.	41						integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CTCCAGGGATCATAGGGATTT	0.612000														78			14		0	0	1	0	0
COL10A1	1300	broad.mit.edu	37	6	116442248	116442248	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:116442248C>T	uc003pwm.3	-	2	1127	c.1031G>A	c.(1030-1032)gGa>gAa	p.G344E	NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA.	344	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TCCTTGGGGTCCCATATTCCC	0.637000														60			4		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169783724	169783724	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:169783724C>T	uc002ueo.1	-	25	3686	c.3560G>A	c.(3559-3561)aGa>aAa	p.R1187K	ABCB11_uc010zda.1_Missense_Mutation_p.R605K|ABCB11_uc010zdb.1_Missense_Mutation_p.R663K	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1187	ABC transporter 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TGCTATGACTCTTTCCATGGG	0.438000														145			12		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24324357	24324357	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:24324357G>A	uc003xeb.3	+	5	548	c.435G>A	c.(433-435)gtG>gtA	p.V145V	ADAM7_uc003xea.1_Silent_p.V145V	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	145					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTGAACCAGTGAAATACTCAG	0.368000														93			6		0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111957472	111957472	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:111957472G>A	uc001eba.3	-	10	1707	c.1651C>T	c.(1651-1653)Cat>Tat	p.H551Y	OVGP1_uc001eaz.3_Missense_Mutation_p.H513Y|OVGP1_uc010owb.2_Missense_Mutation_p.H199Y	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	551					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GTCTGAAAATGGACAGGGGTC	0.547000														132			8		0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40901279	40901279	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:40901279G>A	uc002onr.3	-	6	3249	c.2980C>T	c.(2980-2982)Cca>Tca	p.P994S	PRX_uc002onq.3_Missense_Mutation_p.P855S|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	994					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGAGCTGTGGGATGGACAGA	0.642000														86			5		0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47637472	47637472	+	Silent	SNP	C	A	A	rs63750600		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:47637472C>A	uc002rvy.1	+	2	674	c.606C>A	c.(604-606)ccC>ccA	p.P202P	MSH2_uc010yoh.1_Silent_p.P136P|MSH2_uc002rvz.3_Silent_p.P202P|MSH2_uc010fbg.2_Silent_p.P62P|MSH2_uc010fbf.1_Intron	NM_000251	NP_000242	P43246	MSH2_HUMAN	Homo sapiens mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) (MSH2), mRNA.	202					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding	p.0?(2)|p.P202P(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTGTTTTACCCGGAGGAGAGA	0.453000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					126			11		6.40141e-05	6.46865e-05	1	1	0
TTN	7273	broad.mit.edu	37	2	179436049	179436049	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179436049C>T	uc021vsy.1	-	274	67331	c.67106G>A	c.(67105-67107)gGa>gAa	p.G22369E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Non-coding_Transcript|TTN_uc021vsz.1_Missense_Mutation_p.G16064E|TTN_uc021vta.1_Missense_Mutation_p.G15997E|TTN_uc021vtb.1_Missense_Mutation_p.G15872E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23296	Fibronectin type-III 62.						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)			GACTCTACTTCCTCCATCACT	0.438000														120			26		0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172835519	172835519	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:172835519C>T	uc003fin.4	-	1	187	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	1					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TTCCTGCATCCATCGATCCTG	0.393000														137			17		0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32739102	32739102	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:32739102C>T	uc003jhv.3	+	2	1470	c.1025C>T	c.(1024-1026)tCa>tTa	p.S342L	NPR3_uc010iuo.3_Missense_Mutation_p.S126L|NPR3_uc003jhw.2_Missense_Mutation_p.S126L|NPR3_uc003jhu.3_Missense_Mutation_p.S342L	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN	Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	342					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GTGAAAAGTTCAGTTGAGAAA	0.423000														105			12		0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42204953	42204953	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:42204953C>T	uc002xkv.3	+	9	1182	c.963C>T	c.(961-963)gcC>gcT	p.A321A	SGK2_uc002xkr.3_Silent_p.A261A|SGK2_uc010ggm.3_Silent_p.A261A|SGK2_uc002xkt.3_Non-coding_Transcript|SGK2_uc002xku.3_Silent_p.A261A	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA.	321	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAGTGGCCGCCTGTGACCTCC	0.597000														117			6		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55450665	55450665	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:55450665C>T	uc002qih.4	-	3	1598	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K	NLRP7_uc010esk.3_Missense_Mutation_p.E508K|NLRP7_uc002qig.4_Missense_Mutation_p.E508K|NLRP7_uc002qii.4_Missense_Mutation_p.E508K|NLRP7_uc010esl.3_Missense_Mutation_p.E536K	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	508							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTGAGTCTTTCTTCTCCGGAA	0.577000														99			7		0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120022242	120022242	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:120022242C>T	uc003ksq.3	+	1	916	c.753C>T	c.(751-753)ctC>ctT	p.L251L	PRR16_uc003ksp.3_Silent_p.L228L|PRR16_uc003ksr.3_Silent_p.L181L	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	251	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GCCCTCCCCTCCCTCCTACAC	0.532000														53			5		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126242620	126242620	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:126242620G>A	uc003ifj.4	+	0	5054	c.5054G>A	c.(5053-5055)cGa>cAa	p.R1685Q		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1685	Cadherin 16.				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						ACTATTGGACGACATACTGGT	0.453000														149			12		0	0	1	0	0
KIF11	3832	broad.mit.edu	37	10	94392288	94392288	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:94392288C>T	uc001kic.3	+	12	1848	c.1540C>T	c.(1540-1542)Cat>Tat	p.H514Y		NM_004523	NP_004514	P52732	KIF11_HUMAN	Homo sapiens kinesin family member 11 (KIF11), mRNA.	514					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCTGGTCTCCATTCCAAACT	0.348000														89			9		0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891861	6891861	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:6891861C>T	uc001meu.1	+	0	876	c.876C>T	c.(874-876)gtC>gtT	p.V292V		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCAGGACGGTCTCTAAGGCCC	0.453000														91			13		0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31614197	31614197	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:31614197A>G	uc011kae.2	+	6	529	c.517A>G	c.(517-519)Att>Gtt	p.I173V	CCDC129_uc011kad.1_Missense_Mutation_p.I157V|CCDC129_uc003tcj.1_Missense_Mutation_p.I147V|CCDC129_uc003tci.1_Missense_Mutation_p.I146V|CCDC129_uc003tck.1_Missense_Mutation_p.I55V	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	147										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TCCAGTGGAGATTCTCTTGGA	0.438000														121			36		0	0	1	0	0
DPCR1	135656	broad.mit.edu	37	6	30919629	30919629	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:30919629G>A	uc003nsg.2	+	1	3388	c.3388G>A	c.(3388-3390)Gat>Aat	p.D1130N		NM_080870	NP_543146	Q3MIW9	DPCR1_HUMAN	Homo sapiens diffuse panbronchiolitis critical region 1 (DPCR1), mRNA.	270						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						AGAACATAGAGATAGGGCTAC	0.478000														32			3		0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528836	20528836	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:20528836C>T	uc001vwn.1	+	0	633	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TCACCTGTTTCATCCTCTTGC	0.453000														217			19		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059574	9059574	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:9059574A>C	uc002mkp.3	-	2	28076	c.27872T>G	c.(27871-27873)aTg>aGg	p.M9291R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9293	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGGTCTCCATCAACCCAGG	0.493000														190			14		0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113675655	113675656	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:113675655_113675656GG>AA	uc001poh.3	-	19	2546_2547	c.2513_2514CC>TT	c.(2512-2514)ccc>cTT	p.P838L	USP28_uc001pog.3_Missense_Mutation_p.P514L|USP28_uc010rwy.2_Missense_Mutation_p.P681L|USP28_uc001poi.3_Missense_Mutation_p.P161L	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	838					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CTACCCTTTTGGGTGCTTCATT	0.441000														51			7		0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110131375	110131375	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:110131375C>T	uc003ymz.4	+	1	977	c.888C>T	c.(886-888)ttC>ttT	p.F296F		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	296						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)			CCAGTCCTTTCCAAGAAAATT	0.433000														368			33		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2820113	2820113	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:2820113C>T	uc022aqr.1	-	60	9893	c.9503G>A	c.(9502-9504)gGg>gAg	p.G3168E	CSMD1_uc011kwj.2_Missense_Mutation_p.G2498E|CSMD1_uc010lrg.3_Missense_Mutation_p.G1060E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3169	Sushi 26.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GAAACTTTTCCCACTAAGTCG	0.517000														35			5		0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54555016	54555016	+	Splice_Site	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:54555016G>A	uc002iun.1	+	15	1984	c.1949_splice	c.e15+1	p.R650_splice		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	650										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ATATTTCTAGGTAAGTGATCA	0.423000														77			7		0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175520866	175520866	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:175520866C>T	uc003fit.3	+	13	2350	c.2263C>T	c.(2263-2265)Ccc>Tcc	p.P755S		NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	755					proteolysis	integral to membrane	peptidase activity	p.P755H(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		ACACTGCAAACCCCTTGCATC	0.398000														42			10		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1254210	1254210	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:1254210C>T	uc002cks.3	+	9	2451	c.2203C>T	c.(2203-2205)Cgg>Tgg	p.R735W	CACNA1H_uc002ckt.3_Missense_Mutation_p.R735W	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	735					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)	GCAGGACGTCCGGCACGGTGA	0.701000														25			3		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004580	74004580	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:74004580G>A	uc010wss.1	-	21	5000	c.4772C>T	c.(4771-4773)aCg>aTg	p.T1591M	EVPL_uc002jqi.2_Missense_Mutation_p.T1569M|EVPL_uc010wst.1_Missense_Mutation_p.T1039M	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1569	Central fibrous rod domain.				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						TCTCCCCAGCGTCTCGGCCCG	0.746000														26			4		0	0	1	0	0
DDX11L11	0	broad.mit.edu	37	12	92000	92000	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:92000A>T	uc010sdi.1	-	1	338	c.310T>A	c.(310-312)Ttg>Atg	p.L104M	DDX11L11_uc010sdj.1_Non-coding_Transcript					SubName: Full=DEAD/H box polypeptide 11 like 11;																		GGTCCTGGCAACACTCTGGAC	0.572000														16			3		0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27566005	27566005	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:27566005G>A	uc002rju.1	-	2	687	c.290C>T	c.(289-291)tCa>tTa	p.S97L	GTF3C2_uc002rjv.1_Missense_Mutation_p.S86L|GTF3C2_uc002rjw.1_Missense_Mutation_p.S86L|GTF3C2_uc010eyz.2_Missense_Mutation_p.S86L	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 2, beta 110kDa (GTF3C2), transcript variant 1, mRNA.	86						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACATCTCTGAAGAAAGATC	0.483000														116			26		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3886905	3886905	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:3886905G>A	uc003bpt.4	+	1	1341	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.E194K	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	194						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ACCCAACCTGGAAATTCTCAT	0.393000														201			23		0	0	1	0	0
GOLGA7B	401647	broad.mit.edu	37	10	99623759	99623759	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:99623759G>A	uc001kos.3	+	2	277	c.211G>A	c.(211-213)Ggc>Agc	p.G71S		NM_001010917	NP_001010917	Q2TAP0	GOG7B_HUMAN	Homo sapiens golgin A7 family, member B (GOLGA7B), mRNA.	71						Golgi membrane				endometrium(1)|large_intestine(3)|prostate(1)	5						GAAGATTGGGGGCAGCTCCTA	0.607000														66			4		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87484405	87484405	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:87484405G>A	uc001kdl.1	-	10	1663	c.1562C>T	c.(1561-1563)aCc>aTc	p.T521I	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.T92I	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	521						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TGGGGTGATGGTGATGGCAGA	0.522000										Multiple Myeloma(13;0.14)				64			4		0	0	1	0	0
CPB1	1360	broad.mit.edu	37	3	148558487	148558487	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:148558487A>G	uc003ewl.3	+	3	310	c.287A>G	c.(286-288)aAc>aGc	p.N96S		NM_001871	NP_001862	P15086	CBPB1_HUMAN	Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA.	96					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CTGATAAGCAACCTGAGAAAT	0.453000														117			13		0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84495333	84495333	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:84495333G>A	uc010chj.3	+	25	2671	c.2582G>A	c.(2581-2583)aGa>aAa	p.R861K	ATP2C2_uc002fhx.3_Missense_Mutation_p.R832K|ATP2C2_uc002fhy.3_Missense_Mutation_p.R849K|ATP2C2_uc002fhz.3_Missense_Mutation_p.R681K|ATP2C2_uc002fia.3_Missense_Mutation_p.R143K	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	832					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CCTGAAGACAGAGCAAGCACT	0.562000														236			29		0	0	1	0	0
IFIT1B	439996	broad.mit.edu	37	10	91144316	91144316	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:91144316G>A	uc001kgh.3	+	1	1326	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 1B (IFIT1B), mRNA.	416							binding			endometrium(2)|large_intestine(3)|lung(8)	13						CCATTCCAGGGAAAAACTTCT	0.383000														137			8		0	0	1	0	0
TNFSF4	7292	broad.mit.edu	37	1	173157699	173157699	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:173157699G>A	uc001giw.3	-	1	319	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	TNFSF4_uc001giv.3_Missense_Mutation_p.R5W	NM_003326	NP_003317	P23510	TNFL4_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 4 (TNFSF4), mRNA.	55					T-helper 2 cell activation|acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of T-helper 1 cell differentiation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell activation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of alpha-beta T cell proliferation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction	cell surface|extracellular space|integral to plasma membrane	cytokine activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						CGAGGATACCGATGTGATACC	0.323000														51			12		0	0	1	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178834185	178834185	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:178834185G>T	uc001gma.3	-	2	1203	c.727C>A	c.(727-729)Cca>Aca	p.P243T	RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Missense_Mutation_p.P243T|ANGPTL1_uc010pnc.1_Missense_Mutation_p.P165T	NM_004673	NP_004664	O95841	ANGL1_HUMAN	Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA.	243						extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						GGATAACCTGGATCCCTCTGA	0.493000														82			22		1.2644e-06	1.28218e-06	1	1	0
OR10AG1	282770	broad.mit.edu	37	11	55735698	55735698	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:55735698C>T	uc010rit.2	-	0	242	c.242G>A	c.(241-243)gGa>gAa	p.G81E		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G81E(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AGAAATATTTCCTTTCTGAGT	0.383000														89			6		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38946001	38946001	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:38946001G>A	uc002oit.3	+	13	1697	c.1567G>A	c.(1567-1569)Gaa>Aaa	p.E523K	RYR1_uc002oiu.3_Missense_Mutation_p.E523K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	523					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCTTCTCTATGAACTCCTAGG	0.537000														86			23		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114185963	114185963	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:114185963G>A	uc003ynu.3	-	3	856	c.697C>T	c.(697-699)Cct>Tct	p.P233S	CSMD3_uc003ynt.3_Missense_Mutation_p.P193S|CSMD3_uc011lhx.2_Missense_Mutation_p.P233S|CSMD3_uc010mcx.1_Missense_Mutation_p.P233S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	233	Sushi 1.					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						CTACAGATAGGAACAGGAAAA	0.413000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				104			26		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413137	178413137	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:178413137G>A	uc003mjr.3	-	7	2297	c.2118C>T	c.(2116-2118)tcC>tcT	p.S706S	GRM6_uc003mjq.3_5'Flank|GRM6_uc010jla.1_Silent_p.S289S|GRM6_uc003mjs.1_Silent_p.S326S	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	706					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CCACCTGCAGGGAGGTGAGGC	0.627000														20			3		0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52854702	52854702	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:52854702G>A	uc011bem.2	-	12	1807	c.1779C>T	c.(1777-1779)gtC>gtT	p.V593V	ITIH4_uc011bel.2_Silent_p.V323V|ITIH4_uc003dfy.3_Silent_p.V457V|ITIH4_uc003dfz.3_Silent_p.V593V|ITIH4_uc011ben.2_Silent_p.V593V	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	593					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CGGGTTTGGTGACTACCATAG	0.547000											OREG0015616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		74			7		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27688016	27688016	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:27688016C>T	uc001itu.2	-	3	1629	c.1511G>A	c.(1510-1512)gGg>gAg	p.G504E		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	504	SSD.				spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GCTCATAATCCCTGTATATAA	0.388000														137			12		0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234458812	234458812	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:234458812C>T	uc001hvy.1	+	7	1441	c.1296C>T	c.(1294-1296)atC>atT	p.I432I	SLC35F3_uc001hwa.1_Silent_p.I363I	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	363					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TCGCCATCATCATCATCGGCC	0.547000														62			15		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106829759	106829759	+	RNA	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:106829759C>T	uc021ser.1	-	518		c.15144G>A			abParts_uc001ysx.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CCAGCCCCTTCCCTGGGGGCT	0.557000														144			22		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100345790	100345790	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:100345790C>T	uc003uwj.3	+	9	1219	c.1054C>T	c.(1054-1056)Cca>Tca	p.P352S	ZAN_uc003uwk.3_Missense_Mutation_p.P352S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	352	MAM 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGGAAAGACCCCAGAGCCAGC	0.597000														39			6		0	0	1	0	0
STAM2	10254	broad.mit.edu	37	2	152989930	152989930	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:152989930C>T	uc002tyc.4	-	8	1218	c.868G>A	c.(868-870)Gtt>Att	p.V290I	STAM2_uc010foa.1_Missense_Mutation_p.V290I|STAM2_uc002tyd.3_Missense_Mutation_p.V290I	NM_005843	NP_005834	O75886	STAM2_HUMAN	Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 (STAM2), mRNA.	290					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TCTATATAAACAGGCTCAGGC	0.333000														75			10		0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101762199	101762199	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:101762199G>A	uc001pgl.3	-	8	1574	c.978C>T	c.(976-978)caC>caT	p.H326H		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	326	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TGTTATGGAGGTGACTGCAGC	0.438000														161			14		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77975261	77975261	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:77975261G>A	uc003ugx.3	-	7	1457	c.1203C>T	c.(1201-1203)ccC>ccT	p.P401P	MAGI2_uc003ugy.3_Silent_p.P401P|MAGI2_uc010ldx.1_Silent_p.P10P|MAGI2_uc010ldy.1_Silent_p.P10P|MAGI2_uc011kgr.1_Silent_p.P233P|MAGI2_uc011kgs.1_Silent_p.P238P|RPL13AP17_uc010ldz.3_5'Flank	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	401						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGGCCTGCAGGGGCTTTGTTC	0.448000														111			7		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61965643	61965643	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:61965643G>A	uc001jky.3	-	10	1538	c.1200C>T	c.(1198-1200)ggC>ggT	p.G400G	ANK3_uc010qih.2_Silent_p.G383G|ANK3_uc001jkz.4_Silent_p.G394G|ANK3_uc001jlb.1_5'UTR|ANK3_uc001jlc.1_Silent_p.G61G	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	400					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						GAGGGGTAAAGCCATTCTGCA	0.408000														35			3		0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55523103	55523103	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:55523103G>A	uc001cyf.2	+	6	1458	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	PCSK9_uc010oom.2_Non-coding_Transcript	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	366	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						TGCCCCAGGGGAGGACATCAT	0.612000														57			4		0	0	1	0	0
SPATA13	221178	broad.mit.edu	37	13	24823781	24823781	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr13:24823781C>T	uc001upd.2	+	4	2398	c.1820C>T	c.(1819-1821)tCg>tTg	p.S607L	SPATA13_uc001upe.3_Intron|SPATA13_uc021rhg.1_Missense_Mutation_p.S607L|SPATA13_uc001upg.2_5'UTR|SPATA13_uc010tcy.1_5'Flank|SPATA13_uc010tcz.2_5'Flank	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	Homo sapiens spermatogenesis associated 13 (SPATA13), transcript variant 2, mRNA.	0	C-terminal tail.				cell migration|filopodium assembly|lamellipodium assembly|regulation of Rho protein signal transduction|regulation of cell migration	cytoplasm|filopodium|lamellipodium|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein binding			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CCTGAAGACTCGGTTGCTGCA	0.617000														96			13		0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115229436	115229436	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:115229436G>A	uc001efe.2	-	3	458	c.410C>T	c.(409-411)tCc>tTc	p.S137F	AMPD1_uc001eff.2_Missense_Mutation_p.S133F	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	104					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TGGAGATGAGGAAATGTATTC	0.463000														88			7		0	0	1	0	0
TKT	7086	broad.mit.edu	37	3	53265454	53265455	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:53265454_53265455GG>AA	uc003dgo.3	-	6	1032_1033	c.860_861CC>TT	c.(859-861)acc>aTT	p.T287I	TKT_uc003dgp.2_5'Flank|TKT_uc011beo.1_Missense_Mutation_p.T240I|TKT_uc003dgq.3_Missense_Mutation_p.T287I|TKT_uc011beq.2_Missense_Mutation_p.T295I|TKT_uc011ber.2_Missense_Mutation_p.T89I	NM_001135055	NP_001128527	P29401	TKT_HUMAN	Homo sapiens transketolase (TKT), transcript variant 2, mRNA.	287					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	CCTGTGGAGGGGTTGCCAGGAT	0.554000														69			13		0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792860	143792860	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:143792860C>T	uc011kty.2	+	0	660	c.660C>T	c.(658-660)atC>atT	p.I220I		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	220					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)					ACTTGCACATCCTGGTGGCCA	0.597000														294			19		0	0	1	0	0
C3orf36	80111	broad.mit.edu	37	3	133647364	133647364	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:133647364G>A	uc003epz.1	-	0	1293	c.284C>T	c.(283-285)cCc>cTc	p.P95L		NM_025041	NP_079317	Q3SXR2	CC036_HUMAN	Homo sapiens chromosome 3 open reading frame 36 (C3orf36), mRNA.	95										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						GCTGGGTAGGGGTGGAGTGTG	0.697000														31			6		0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53453967	53453967	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:53453967G>A	uc002qal.2	-	4	1412	c.1061C>T	c.(1060-1062)tCa>tTa	p.S354L	ZNF816_uc010eqj.3_Intron|ZNF816_uc002qak.2_Intron|ZNF816_uc021uzc.1_Missense_Mutation_p.S354L|ZNF816_uc002qam.2_Missense_Mutation_p.S354L	NM_001031665	NP_001189386	Q0VGE8	ZN816_HUMAN	Homo sapiens zinc finger protein 816 (ZNF816), transcript variant 1, mRNA.	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TACAAGGGCTGAATTTCGACC	0.418000														247			9		0	0	1	0	0
C16orf46	123775	broad.mit.edu	37	16	81095361	81095361	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:81095361G>A	uc002fgc.4	-	3	852	c.593C>T	c.(592-594)tCc>tTc	p.S198F	C16orf46_uc010chf.3_Missense_Mutation_p.S198F|C16orf46_uc010vno.2_5'UTR	NM_152337	NP_689550	Q6P387	CP046_HUMAN	Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA.	198										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GCCTGGGATGGACAGCCCTCT	0.552000														174			21		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174609	63174609	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:63174609C>T	uc001xfx.3	-	10	2635	c.2584G>A	c.(2584-2586)Gat>Aat	p.D862N	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	862					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCACAAGAATCTGTTTTTCTT	0.473000														154			17		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21937061	21937061	+	RNA	SNP	A	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:21937061A>G	uc010tzj.1	-	0		c.3679T>C								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TAGCATGTAAAAACTCCAATG	0.458000														369			12		0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149906415	149906415	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:149906415G>A	uc001etl.4	-	5	724	c.473C>T	c.(472-474)aCc>aTc	p.T158I	MTMR11_uc001etm.2_Missense_Mutation_p.T86I|MTMR11_uc010pbm.1_Missense_Mutation_p.T130I|MTMR11_uc010pbn.1_5'UTR	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	158							phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AATGGCCATGGTCACCTGCAG	0.502000														51			21		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23509190	23509190	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:23509190G>A	uc003jgo.3	+	1	230	c.48G>A	c.(46-48)gaG>gaA	p.E16E		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	16					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAGACACAGAGAGAACAGAGC	0.567000										HNSCC(3;0.000094)				58			11		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50724786	50724786	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:50724786C>T	uc021vhh.1	-	12	3485	c.2564G>A	c.(2563-2565)cGa>cAa	p.R855Q	NRXN1_uc002rxb.4_Missense_Mutation_p.R527Q|NRXN1_uc021vhg.1_Missense_Mutation_p.R895Q|NRXN1_uc021vhi.1_Missense_Mutation_p.R891Q|NRXN1_uc021vhj.1_Missense_Mutation_p.R851Q|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	855	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AAGATACCGTCGTTCTGTGAT	0.403000														63			8		0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	31045329	31045329	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr21:31045329C>T	uc002yno.1	-	3	1164	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	GRIK1_uc002ynn.3_Missense_Mutation_p.E234K|GRIK1_uc011acs.2_Missense_Mutation_p.E234K|GRIK1_uc011act.2_Missense_Mutation_p.E178K|GRIK1_uc010glq.1_Missense_Mutation_p.E92K|GRIK1_uc002ynr.3_Missense_Mutation_p.E234K	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	234					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GCGGCTGTTTCATGTGAACAA	0.423000														229			12		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133539545	133539545	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:133539545C>T	uc002ttp.3	-	13	5213	c.4839G>A	c.(4837-4839)acG>acA	p.T1613T	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1613							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGGTGTCTTTCGTTGAACATG	0.438000														110			18		0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75428043	75428043	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:75428043C>T	uc003kei.1	+	1	602	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	156					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)		CCCTTTTCTTCGTCCTGGGCA	0.507000														105			13		0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202288019	202288019	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:202288019C>T	uc001gxu.3	+	17	2588	c.2588C>T	c.(2587-2589)tCc>tTc	p.S863F	LGR6_uc001gxv.3_Missense_Mutation_p.S811F|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Missense_Mutation_p.S724F	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	863						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GAGAAGAGCTCCTGTGATTCT	0.637000														97			32		0	0	1	0	0
OR52K2	119774	broad.mit.edu	37	11	4471433	4471433	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:4471433G>A	uc001lyz.2	+	0	909	c.864G>A	c.(862-864)atG>atA	p.M288I		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 2 (OR52K2), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P287P(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCACCCATGGTCAATCCCA	0.498000														129			6		0	0	1	0	0
RFT1	91869	broad.mit.edu	37	3	53139703	53139703	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:53139703T>C	uc003dgj.3	-	8	997	c.943A>G	c.(943-945)Aca>Gca	p.T315A		NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	Homo sapiens RFT1 homolog (S. cerevisiae) (RFT1), mRNA.	315					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		TTCTGAAGTGTGGCATCCTTT	0.408000														196			36		0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75051170	75051170	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:75051170G>A	uc009xrc.3	-	19	2384	c.2263C>T	c.(2263-2265)Cga>Tga	p.R755*	TTC18_uc001jty.3_Nonsense_Mutation_p.R755*|TTC18_uc001jtv.4_5'UTR|TTC18_uc001jtw.4_5'UTR|TTC18_uc001jtx.3_Nonsense_Mutation_p.R136*	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	755							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					ATTTCCATTCGAATATCATTG	0.368000														99			8		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40735547	40735547	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:40735547C>T	uc002xkg.3	-	23	3453	c.3269G>A	c.(3268-3270)cGg>cAg	p.R1090Q	PTPRT_uc010ggj.3_Missense_Mutation_p.R1109Q|PTPRT_uc010ggi.3_Missense_Mutation_p.R293Q	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1090	Substrate binding (By similarity).|Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.R1089H(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCAGCCAGTCCGCCCAGCCCC	0.587000														98			11		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22383180	22383180	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:22383180C>T	uc001yuc.1	+	6	1689	c.708C>T	c.(706-708)gcC>gcT	p.A236A	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Silent_p.A236A	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AGAACAAGGCCATGTCCACGT	0.502000														193			11		0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94879518	94879518	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:94879518G>A	uc003unp.3	+	8	2563	c.2281G>A	c.(2281-2283)Gaa>Aaa	p.E761K	PPP1R9A_uc010lfj.3_Missense_Mutation_p.E783K|PPP1R9A_uc011kif.2_Missense_Mutation_p.E761K|PPP1R9A_uc003unq.3_Missense_Mutation_p.E761K|PPP1R9A_uc011kig.2_Missense_Mutation_p.E761K	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	761	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCAGGCCTTGGAAAAGAAATA	0.373000										HNSCC(28;0.073)				57			11		0	0	1	0	0
RXFP3	51289	broad.mit.edu	37	5	33937952	33937952	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:33937952C>T	uc003jic.2	+	0	1462	c.1107C>T	c.(1105-1107)taC>taT	p.Y369Y		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 3 (RXFP3), mRNA.	369						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GCCAGGTATACGCGTTCCCTG	0.617000														105			8		0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58579076	58579076	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:58579076G>A	uc002qrg.3	+	3	1299	c.1296G>A	c.(1294-1296)aaG>aaA	p.K432K	ZNF135_uc002qre.3_Silent_p.K408K|ZNF135_uc002qrf.3_Silent_p.K366K|ZNF135_uc010yhq.2_Silent_p.K420K|ZNF135_uc010yhr.2_Silent_p.K229K|ZNF135_uc002qrd.2_Intron|ZNF135_uc021vcu.1_3'UTR	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	420					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CAGGAGAAAAGCCCTATGAGT	0.547000														88			8		0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61982356	61982356	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:61982356G>A	uc002yes.2	-	4	585	c.407C>T	c.(406-408)aCc>aTc	p.T136I	CHRNA4_uc002yet.1_5'UTR|CHRNA4_uc010gke.1_Missense_Mutation_p.T65I|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	136					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GGTCAGGTGGGTGACCGCGAA	0.647000														57			4		0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165962460	165962460	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:165962460C>T	uc003iqy.1	+	2	1406	c.1236C>T	c.(1234-1236)ccC>ccT	p.P412P	TRIM60_uc010iqx.1_Silent_p.P412P|TRIM60_uc021xty.1_Silent_p.P412P	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	412	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TAGTAAAACCCAGTAAAATTG	0.398000														127			14		0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130507002	130507002	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:130507002C>T	uc004bsc.3	-	6	1783	c.1641G>A	c.(1639-1641)gtG>gtA	p.V547V	SH2D3C_uc010mxo.3_Silent_p.V387V|SH2D3C_uc004bry.3_Silent_p.V389V|SH2D3C_uc004brz.4_Silent_p.V193V|SH2D3C_uc011mak.2_Silent_p.V193V|SH2D3C_uc004bsb.3_Silent_p.V479V|SH2D3C_uc004bsa.3_Silent_p.V390V	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	547					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AAGTGACTTCCACGATGGGGA	0.597000														172			28		0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102124560	102124560	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:102124560C>T	uc003pqp.4	+	3	897	c.604C>T	c.(604-606)Cgt>Tgt	p.R202C	GRIK2_uc021zdj.1_Missense_Mutation_p.R202C|GRIK2_uc003pqn.3_Missense_Mutation_p.R202C|GRIK2_uc010kcw.3_Missense_Mutation_p.R202C|GRIK2_uc003pqo.4_Missense_Mutation_p.R202C|GRIK2_uc021zdk.1_Missense_Mutation_p.R202C|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	202					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R202C(6)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	ACTCAAAATTCGTCAGTTACC	0.343000														44			4		0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87031442	87031442	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:87031442G>A	uc003uiv.1	-	27	3907	c.3831C>T	c.(3829-3831)gtC>gtT	p.V1277V	ABCB4_uc003uiw.1_Silent_p.V1270V|ABCB4_uc003uix.1_Silent_p.V1223V	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	1277	ABC transporter 2.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.Q1277Q(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CCTGGACACTGACCATTGAAA	0.378000														113			18		0	0	1	0	0
PAPOLG	64895	broad.mit.edu	37	2	60995610	60995610	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:60995610C>T	uc002sai.3	+	3	501	c.252C>T	c.(250-252)ctC>ctT	p.L84L	PAPOLG_uc002saj.3_5'UTR|PAPOLG_uc002sak.3_5'UTR	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	Homo sapiens poly(A) polymerase gamma (PAPOLG), mRNA.	84					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TTTAGAACCTCCCACCTTCTG	0.388000														73			5		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13923474	13923474	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:13923474C>T	uc003jfd.2	-	3	395	c.353G>A	c.(352-354)gGa>gAa	p.G118E	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	118	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CACATCGTTTCCCTCGGTCAC	0.453000									Kartagener syndrome					167			35		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587769	247587769	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:247587769C>T	uc001icr.3	+	4	1162	c.1024C>T	c.(1024-1026)Ccc>Tcc	p.P342S	NLRP3_uc001ics.3_Missense_Mutation_p.P342S|NLRP3_uc001icu.3_Missense_Mutation_p.P342S|NLRP3_uc001icw.3_Missense_Mutation_p.P342S|NLRP3_uc001icv.3_Missense_Mutation_p.P342S|NLRP3_uc010pyw.2_Missense_Mutation_p.P340S|NLRP3_uc001ict.1_Missense_Mutation_p.P340S	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	342	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAAGCTGCTTCCCGAGGCCTC	0.587000														113			27		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54305384	54305384	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:54305384G>A	uc021smr.1	+	0	284	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	UNC13C_uc021sms.1_Missense_Mutation_p.R95Q	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	95					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTCAGTTACCGAGTAGCTATT	0.423000														48			10		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119625875	119625875	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:119625875G>A	uc004bjt.2	-	9	1975	c.1874C>T	c.(1873-1875)tCc>tTc	p.S625F	ASTN2_uc022bml.1_Missense_Mutation_p.S321F|ASTN2_uc022bmm.1_Missense_Mutation_p.S325F	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	676						integral to membrane		p.S625Y(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACATCCCGAGGAATCCACCTG	0.607000														77			9		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234581109	234581109	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:234581109C>T	uc002vus.3	+	0	566	c.529C>T	c.(529-531)Ctt>Ttt	p.L177F	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.L177F	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	180			C -> R (in CN1).		bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TTGCCACTATCTTGAAGAAGG	0.478000														279			16		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92346025	92346025	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr13:92346025G>A	uc010tif.2	+	2	1276	c.910G>A	c.(910-912)Gat>Aat	p.D304N		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	304						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.S303L(1)|p.S303S(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AGAACTCTCGGATGCAATGCA	0.483000														111			6		0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134237664	134237664	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:134237664G>A	uc003yub.3	+	3	748	c.642G>A	c.(640-642)agG>agA	p.R214R	WISP1_uc003yuc.3_Silent_p.R127R|WISP1_uc010meb.3_Silent_p.R42R|WISP1_uc010mec.3_Intron|WISP1_uc010med.3_Intron|WISP1_uc003yud.3_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	214					Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CATGGCACAGGAACTGCATAG	0.597000														124			20		0	0	1	0	0
POU5F2	134187	broad.mit.edu	37	5	93076586	93076586	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:93076586G>A	uc003kkl.1	-	0	724	c.684C>T	c.(682-684)ttC>ttT	p.F228F	FAM172A_uc010jbd.3_Intron|FAM172A_uc011cuf.2_Intron|FAM172A_uc011cug.2_Intron|FAM172A_uc011cuh.2_Intron|FAM172A_uc011cui.2_Intron|FAM172A_uc011cuj.2_Intron	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN	Homo sapiens POU domain class 5, transcription factor 2 (POU5F2), mRNA.	228						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		ACCGCTGGAAGAATTTCTCCA	0.537000														40			9		0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216288194	216288194	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:216288194G>A	uc002vfa.3	-	8	1538	c.1272C>T	c.(1270-1272)ttC>ttT	p.F424F	FN1_uc002vfc.3_Silent_p.F424F|FN1_uc002vfe.3_Silent_p.F424F|FN1_uc002vff.3_Silent_p.F424F|FN1_uc002vfg.3_Silent_p.F424F|FN1_uc002vfh.3_Silent_p.F424F|FN1_uc002vfi.3_Silent_p.F424F|FN1_uc002vfj.3_Silent_p.F424F|FN1_uc002vfb.3_Silent_p.F424F|FN1_uc002vfl.3_Silent_p.F424F	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	424	Collagen-binding.|Fibronectin type-II 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTTGTATAGGAAGGGGAAGT	0.463000														49			4		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73736029	73736029	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:73736029G>A	uc002jpg.3	+	19	2510	c.2323G>A	c.(2323-2325)Gac>Aac	p.D775N	ITGB4_uc002jph.3_Missense_Mutation_p.D775N|ITGB4_uc010dgo.3_Missense_Mutation_p.D775N|ITGB4_uc002jpi.4_Missense_Mutation_p.D775N|ITGB4_uc010dgp.1_Missense_Mutation_p.D775N|ITGB4_uc002jpj.3_Missense_Mutation_p.D775N	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	775					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGACCACTTGGACACGCCCAT	0.622000														75			7		0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160230149	160230149	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:160230149G>A	uc003qsy.1	+	8	781	c.742G>A	c.(742-744)Ggt>Agt	p.G248S	PNLDC1_uc003qsx.1_Missense_Mutation_p.G237S	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.	237						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTCAGCAAGGGGTTTTTCTGT	0.418000														67			7		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121882	38121882	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:38121882C>T	uc003atr.3	+	6	3590	c.3319C>T	c.(3319-3321)Cag>Tag	p.Q1107*	TRIOBP_uc003atu.3_Nonsense_Mutation_p.Q935*|TRIOBP_uc003atq.1_Nonsense_Mutation_p.Q1107*|TRIOBP_uc003ats.1_Nonsense_Mutation_p.Q935*	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1107					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CGAGCCCCTTCAGCTCCCTGC	0.642000														141			16		0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158057740	158057740	+	Nonsense_Mutation	SNP	G	A	A	rs62636642		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:158057740G>A	uc003ipj.2	+	4	619	c.417G>A	c.(415-417)tgG>tgA	p.W139*	GLRB_uc021xtp.1_Nonsense_Mutation_p.W139*|GLRB_uc021xtq.1_Nonsense_Mutation_p.W139*	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	139					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)	AGTGTTTATGGAAACCTGATT	0.408000														105			6		0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48170629	48170629	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:48170629G>A	uc003gxz.3	-	5	560	c.469C>T	c.(469-471)Cta>Tta	p.L157L		NM_003215	NP_003206	P42680	TEC_HUMAN	Homo sapiens tec protein tyrosine kinase (TEC), mRNA.	157					intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.A156A(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						GCTGGAGGTAGTGCTTTTCTT	0.313000														55			6		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70880953	70880953	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:70880953G>A	uc003tvy.3	+	3	668	c.668G>A	c.(667-669)aGg>aAg	p.R223K	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	223	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AATCAGAAGAGGGAAGGCCTG	0.562000														78			6		0	0	1	0	0
RNF214	257160	broad.mit.edu	37	11	117109436	117109436	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:117109436C>T	uc001pqt.3	+	2	272	c.227C>T	c.(226-228)tCa>tTa	p.S76L	RNF214_uc001pqu.3_Missense_Mutation_p.S76L|RNF214_uc010rxf.2_Intron	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	Homo sapiens ring finger protein 214 (RNF214), transcript variant 1, mRNA.	76							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		AATCCTGGTTCATCAGCAGGT	0.473000														259			13		0	0	1	0	0
BSND	7809	broad.mit.edu	37	1	55472814	55472814	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:55472814G>A	uc001cye.3	+	2	660	c.417G>A	c.(415-417)ccG>ccA	p.P139P		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA.	139						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						TGGGGCAGCCGAAGCTGGGAA	0.602000														74			8		0	0	1	0	0
OR10H1	26539	broad.mit.edu	37	19	15917948	15917948	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:15917948G>A	uc002nbq.2	-	0	989	c.900C>T	c.(898-900)gtC>gtT	p.V300V		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						TCTTCATGGCGACCTTCAGCT	0.468000														89			5		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23888759	23888759	+	Silent	SNP	C	T	T	rs45497796		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:23888759C>T	uc001wjx.3	-	27	3892	c.3786G>A	c.(3784-3786)aaG>aaA	p.K1262K	MIR208B_uc021rqy.1_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1262					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCTCCTCCGCCTTGCTCCGGT	0.577000														146			14		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53844201	53844201	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:53844201C>T	uc003dgv.4	+	46	6231	c.6068C>T	c.(6067-6069)tCc>tTc	p.S2023F	CACNA1D_uc003dgu.4_Missense_Mutation_p.S2043F|CACNA1D_uc003dgy.4_Missense_Mutation_p.S1999F|CACNA1D_uc003dgw.4_Missense_Mutation_p.S1690F|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	2023					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CACCGCAGCTCCTGGTACACA	0.622000														76			19		0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146720092	146720092	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:146720092C>T	uc010khw.1	+	7	2387	c.1917C>T	c.(1915-1917)ttC>ttT	p.F639F	GRM1_uc010khv.1_Silent_p.F639F|GRM1_uc003qll.2_Silent_p.F639F|GRM1_uc011edz.1_Silent_p.F639F|GRM1_uc011eea.1_Silent_p.F639F	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	639					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.F639fs*37(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CTGGCATCTTCCTTGGTTATG	0.517000														281			11		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12336563	12336563	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:12336563G>A	uc001atv.3	+	18	3059	c.2918G>A	c.(2917-2919)cGg>cAg	p.R973Q	VPS13D_uc001atw.3_Missense_Mutation_p.R973Q|VPS13D_uc001atx.3_Missense_Mutation_p.R161Q	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	973					protein localization			p.R973R(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGCAATGGCCGGTACATTTCT	0.502000											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		131			10		0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71215675	71215675	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:71215675G>A	uc001xmm.3	-	4	1197	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	MAP3K9_uc010ttk.2_Silent_p.I136I|MAP3K9_uc001xmk.3_Silent_p.I93I|MAP3K9_uc001xml.3_Silent_p.I399I	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	399	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCTGGTCCAGGATATTCGTGA	0.468000														116			14		0	0	1	0	0
VTA1	51534	broad.mit.edu	37	6	142490804	142490804	+	Silent	SNP	C	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:142490804C>A	uc003qiw.3	+	2	340	c.325C>A	c.(325-327)Cga>Aga	p.R109R	VTA1_uc011edu.2_Silent_p.R51R	NM_016485	NP_057569	Q9NP79	VTA1_HUMAN	Homo sapiens Vps20-associated 1 homolog (S. cerevisiae) (VTA1), mRNA.	109	Interaction with IST1.				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		TCGTGCTGGACGATTTCACAA	0.303000														34			5		0.184627	0.184627	1	1	0
TRA	0	broad.mit.edu	37	14	22192302	22192302	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:22192302C>T	uc021rpa.1	+	1	205	c.77C>T	c.(76-78)cCg>cTg	p.P26L	TRA_uc001wbn.2_Non-coding_Transcript|TRA_uc021rpb.1_5'Flank					Homo sapiens mRNA for T cell receptor alpha variable 3, partial cds, clone: SEB 36.																		GTGGCTCAGCCGGAAGATCAG	0.468000														141			32		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63970504	63970504	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:63970504T>A	uc002amp.3	-	36	6758	c.6610A>T	c.(6610-6612)Att>Ttt	p.I2204F		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	2204					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGACTACAAATAGGGTCTCCT	0.443000														24			4		0	0	1	0	0
EIF3I	8668	broad.mit.edu	37	1	32688147	32688147	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:32688147C>T	uc001bur.4	+	2	545	c.12C>T	c.(10-12)atC>atT	p.I4I	TMEM234_uc001buo.3_5'Flank|TMEM234_uc001bup.3_5'Flank|TMEM234_uc009vub.1_5'Flank|TMEM234_uc010oha.2_5'Flank|TMEM234_uc001buq.4_5'Flank|EIF3I_uc009vuc.3_Silent_p.I4I	NM_003757	NP_003748	Q13347	EIF3I_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit I (EIF3I), mRNA.	4						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				AGAAGCCGATCCTACTGCAGG	0.557000														121			13		0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38647312	38647312	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:38647312G>A	uc010qex.1	+	1	183	c.108G>A	c.(106-108)agG>agA	p.R36R	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc010qew.1_Silent_p.R36R|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Silent_p.R36R					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TGGCGTGCAGGAATATGAGCA	0.557000														34			4		0	0	1	0	0
ALOXE3	59344	broad.mit.edu	37	17	8020148	8020148	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:8020148G>A	uc002gka.3	-	1	797	c.766C>T	c.(766-768)Ccc>Tcc	p.P256S	ALOXE3_uc010cnr.3_Missense_Mutation_p.P100S|ALOXE3_uc010vuo.2_Missense_Mutation_p.P232S|ALOXE3_uc010vup.2_Non-coding_Transcript|TRNA_Lys_uc021tpo.1_5'Flank|TRNA_Gln_uc021tpp.1_5'Flank	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	Homo sapiens arachidonate lipoxygenase 3 (ALOXE3), transcript variant 2, mRNA.	100	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						TGATAGCAGGGGAAGTGGGAT	0.557000														84			5		0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26510622	26510622	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:26510622C>T	uc001bln.4	+	9	995	c.937C>T	c.(937-939)Ctg>Ttg	p.L313L	CNKSR1_uc010oex.1_Intron|CNKSR1_uc001blm.4_Silent_p.L306L|CNKSR1_uc009vsd.3_Silent_p.L48L|CNKSR1_uc009vse.3_Silent_p.L48L	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	313	Pro-rich.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGGCCCCACTGTCTCCCAG	0.627000														100			12		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38980061	38980061	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:38980061G>A	uc021yzh.1	+	89	13551	c.13442G>A	c.(13441-13443)aGa>aAa	p.R4481K	DNAH8_uc003ooe.2_Missense_Mutation_p.R4264K	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAAATTGACAGAATGCAAAGA	0.348000														89			6		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24923710	24923710	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:24923710C>T	uc001ywo.3	+	0	3170	c.2696C>T	c.(2695-2697)tCc>tTc	p.S899F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	899					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)		ATCTCTCATTCCACACTTGGG	0.493000														200			13		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61830336	61830337	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:61830336_61830337GG>AA	uc001jky.3	-	36	10640_10641	c.10302_10303CC>TT	c.(10300-10305)ctccca>ctTTca	p.P3435S	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.	3435					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						GCTTGAATTGGGAGTTTAGAAT	0.441000														92			10		0	0	1	0	0
TRIT1	54802	broad.mit.edu	37	1	40315824	40315824	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:40315824G>A	uc021olz.1	-	4	684	c.670C>T	c.(670-672)Cct>Tct	p.P224S	TRIT1_uc001ced.4_5'UTR|TRIT1_uc001cee.4_Non-coding_Transcript|TRIT1_uc001cef.4_Non-coding_Transcript|TRIT1_uc001ceg.4_5'UTR|TRIT1_uc001ceh.4_5'UTR|TRIT1_uc009vvv.3_Missense_Mutation_p.P83S|TRIT1_uc001cei.4_5'UTR|TRIT1_uc001cec.4_Non-coding_Transcript|TRIT1_uc001ceq.3_5'UTR|TRIT1_uc001cek.3_Intron|TRIT1_uc009vvx.3_Intron|TRIT1_uc001cel.3_Intron|TRIT1_uc001cem.3_Missense_Mutation_p.P144S|TRIT1_uc001cen.3_5'UTR|TRIT1_uc001ceo.3_5'UTR|TRIT1_uc001cep.3_Intron	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	Homo sapiens tRNA isopentenyltransferase 1 (TRIT1), mRNA.	224					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGGATGCAAGGGTTAGAGAAC	0.453000														66			9		0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524827	112524827	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:112524827C>T	uc001ebu.1	-	1	1002	c.522G>A	c.(520-522)gaG>gaA	p.E174E	KCND3_uc001ebv.1_Silent_p.E174E	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	174						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TGTGGGGGTTCTCGAAGGCCC	0.627000														55			6		0	0	1	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182874688	182874688	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:182874688G>A	uc001gpu.3	-	6	1564	c.1279C>T	c.(1279-1281)Cca>Tca	p.P427S	SHCBP1L_uc001gpv.3_Missense_Mutation_p.P308S|SHCBP1L_uc010pnz.2_Missense_Mutation_p.P285S|SHCBP1L_uc001gpw.3_Missense_Mutation_p.P147S	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.	499										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TATTCTCCTGGAAAAATTATT	0.343000														55			12		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13752396	13752396	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:13752396G>A	uc003jfd.2	-	63	10917	c.10875C>T	c.(10873-10875)atC>atT	p.I3625I	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3625	AAA 5 (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)					TTAAAGACGTGATCTAGGAAC	0.423000									Kartagener syndrome					99			19		0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29845323	29845323	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:29845323C>T	uc002dui.3	+	4	665	c.513C>T	c.(511-513)aaC>aaT	p.N171N	BOLA2_uc010bzb.1_Intron|MVP_uc010bzh.2_Non-coding_Transcript|MVP_uc010vdz.2_Intron|MVP_uc002duj.3_Silent_p.N171N|MVP_uc010vea.2_5'UTR	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	171					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						TCAGGCAGAACCAGGCTCTGC	0.627000														72			27		0	0	1	0	0
CCDC81	60494	broad.mit.edu	37	11	86111814	86111814	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:86111814G>A	uc001pbx.2	+	6	1280	c.852G>A	c.(850-852)gaG>gaA	p.E284E	CCDC81_uc001pbw.2_Silent_p.E194E|CCDC81_uc010rtq.2_Silent_p.E67E|CCDC81_uc001pby.2_Silent_p.E67E	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	Homo sapiens coiled-coil domain containing 81 (CCDC81), transcript variant 1, mRNA.	284										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)				AACGAAGTGAGAGTGGTGGGA	0.398000														113			5		0	0	1	0	0
PAQR9	344838	broad.mit.edu	37	3	142681299	142681299	+	Nonsense_Mutation	SNP	T	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:142681299T>A	uc003evg.3	-	0	880	c.880A>T	c.(880-882)Aag>Tag	p.K294*	PAQR9_uc003evf.1_Non-coding_Transcript	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	Homo sapiens progestin and adipoQ receptor family member IX (PAQR9), mRNA.	294						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						TCGGGGATCTTGCTCACGTTG	0.587000														115			14		0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111689103	111689103	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:111689103G>A	uc003puy.4	-	13	6229	c.5888C>T	c.(5887-5889)cCa>cTa	p.P1963L	REV3L_uc003pux.4_Missense_Mutation_p.P1885L|REV3L_uc003puz.4_Missense_Mutation_p.P1885L|REV3L_uc003pva.1_Non-coding_Transcript	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	1963					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CCCTGGCCTTGGATTCTGAGT	0.443000								DNA polymerases (catalytic subunits)						101			5		0	0	1	0	0
LAT2	7462	broad.mit.edu	37	7	73634097	73634097	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:73634097C>T	uc003uag.3	+	4	708	c.158C>T	c.(157-159)aCg>aTg	p.T53M	LAT2_uc003uah.3_Missense_Mutation_p.T53M|LAT2_uc003uai.3_Missense_Mutation_p.T53M|LAT2_uc010lbo.3_Non-coding_Transcript	NM_032464	NP_115853	Q9GZY6	NTAL_HUMAN	Homo sapiens linker for activation of T cells family, member 2 (LAT2), transcript variant 1, mRNA.	53					B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						CAGAGCTTTACGGGGTCCCGG	0.607000														222			9		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7559397	7559397	+	Missense_Mutation	SNP	C	T	T	rs80190863		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:7559397C>T	uc010sge.2	-	4	874	c.848G>A	c.(847-849)gGg>gAg	p.G283E	CD163L1_uc001qsy.3_Missense_Mutation_p.G273E	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	273	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CTCTACTCTCCCCATACAGCG	0.458000														116			17		0	0	1	0	0
CCT5	22948	broad.mit.edu	37	5	10258377	10258377	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:10258377A>G	uc003jeq.3	+	4	856	c.685A>G	c.(685-687)Att>Gtt	p.I229V	CCT5_uc011cmq.2_Missense_Mutation_p.I76V|CCT5_uc011cmr.2_Missense_Mutation_p.I174V|CCT5_uc011cms.2_Missense_Mutation_p.I191V|CCT5_uc011cmt.2_Missense_Mutation_p.I136V	NM_012073	NP_036205	P48643	TCPE_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 5 (epsilon) (CCT5), mRNA.	229					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TAAGGGCGTGATTGTGGACAA	0.458000														64			9		0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2890866	2890866	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr18:2890866G>A	uc002kln.3	+	3	900	c.741G>A	c.(739-741)caG>caA	p.Q247Q		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	247					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AAACGGGCCAGAGTCCTGGTG	0.507000														95			11		0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172643136	172643136	+	Splice_Site	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:172643136C>T	uc003fin.4	-	7	1412	c.1228_splice	c.e7+1	p.E410_splice		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	410					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GATGATTTACCTGTGAATATC	0.363000														48			7		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140249574	140249574	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:140249574C>T	uc003lia.2	+	0	1744	c.886C>T	c.(886-888)Caa>Taa	p.Q296*	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Nonsense_Mutation_p.Q296*	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	312	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)			TACACTAGATCAAAATAATGG	0.383000														29			3		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35771020	35771020	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:35771020C>T	uc011axy.2	+	12	1561	c.1349C>T	c.(1348-1350)cCa>cTa	p.P450L	ARPP21_uc003cga.3_Missense_Mutation_p.P430L|ARPP21_uc003cgb.3_Missense_Mutation_p.P484L|ARPP21_uc003cgf.3_Missense_Mutation_p.P285L|ARPP21_uc003cgg.3_5'UTR	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	484						cytoplasm	nucleic acid binding	p.P449S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CTTCTTAATCCACACACAGGT	0.463000														66			10		0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141499398	141499398	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:141499398C>T	uc011bnd.2	+	1	879	c.795C>T	c.(793-795)tgC>tgT	p.C265C		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	265	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CCCATCTCTGCCTTGTCATGA	0.537000														96			17		0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69083373	69083373	+	Missense_Mutation	SNP	G	A	A	rs139991199	byFrequency	TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:69083373G>A	uc001suf.3	+	2	276	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	LOC100507250_uc021rac.1_5'Flank|NUP107_uc001sug.3_5'UTR|NUP107_uc010stj.2_Missense_Mutation_p.E16K	NM_020401	NP_065134	P57740	NU107_HUMAN	Homo sapiens nucleoporin 107kDa (NUP107), mRNA.	54					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding	p.R54Q(2)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GTTATCCCTCGAACTCCTAGC	0.318000														74			5		0	0	1	0	0
MIIP	60672	broad.mit.edu	37	1	12082292	12082292	+	Silent	SNP	T	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:12082292T>G	uc001ato.2	+	2	648	c.255T>G	c.(253-255)cgT>cgG	p.R85R		NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN	Homo sapiens migration and invasion inhibitory protein (MIIP), mRNA.	85										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GGGACCTCCGTGATGTGGCCA	0.677000														72			8		0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46347386	46347386	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:46347386G>A	uc002pdn.3	-	7	994	c.749C>T	c.(748-750)tCc>tTc	p.S250F	SYMPK_uc002pdo.1_Missense_Mutation_p.S250F|SYMPK_uc002pdp.1_Missense_Mutation_p.S250F|SYMPK_uc002pdq.2_Missense_Mutation_p.S250F	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	250					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CAGGTTGATGGAGGAGATGGC	0.557000														100			6		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49699035	49699035	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:49699035C>T	uc003cxe.4	+	5	9871	c.9757C>T	c.(9757-9759)Cgg>Tgg	p.R3253W		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3253					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)		TGATAGCCAACGGCTGGAGCC	0.582000														150			18		0	0	1	0	0
CABP1	9478	broad.mit.edu	37	12	121098952	121098952	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:121098952G>A	uc001tyu.3	+	4	1085	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R	CABP1_uc001tyv.3_Missense_Mutation_p.G197R|CABP1_uc001tyw.3_Missense_Mutation_p.G137R|CABP1_uc001tyx.3_Missense_Mutation_p.G182R	NM_001033677	NP_001028849	Q9NZU7	CABP1_HUMAN	Homo sapiens calcium binding protein 1 (CABP1), transcript variant 3, mRNA.	340	EF-hand 4.					Golgi apparatus|cell cortex|cell junction|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCATCAGGTGGGACACCGAGA	0.522000														83			14		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140389226	140389226	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:140389226G>A	uc003lii.3	+	3	3333	c.2728G>A	c.(2728-2730)Gaa>Aaa	p.E910K	PCDHAC2_uc003lha.2_Missense_Mutation_p.E589K|PCDHAC2_uc003lhb.2_Missense_Mutation_p.E853K|PCDHAC2_uc003lhd.2_Missense_Mutation_p.E851K|PCDHAC2_uc003lhf.2_Missense_Mutation_p.E853K|PCDHAC2_uc003lhh.1_Missense_Mutation_p.E850K|PCDHAC2_uc003lhi.2_Missense_Mutation_p.E850K|PCDHAC2_uc003lhl.2_Missense_Mutation_p.E839K|PCDHAC2_uc003lhk.1_Missense_Mutation_p.E839K|PCDHAC2_uc003lho.2_Missense_Mutation_p.E853K|PCDHAC2_uc003lhn.2_Missense_Mutation_p.E589K|PCDHAC2_uc003lhq.2_Missense_Mutation_p.E840K|PCDHAC2_uc003lhs.2_Missense_Mutation_p.E853K|PCDHAC2_uc003lhu.2_Missense_Mutation_p.E853K|PCDHAC2_uc003lhw.2_Missense_Mutation_p.E588K|PCDHAC2_uc003lhx.2_Missense_Mutation_p.E851K|PCDHAC2_uc003lia.2_Missense_Mutation_p.E852K|PCDHAC2_uc003lic.2_Missense_Mutation_p.E844K|PCDHAC2_uc003lif.2_Missense_Mutation_p.E853K|PCDHAC2_uc003lie.1_Missense_Mutation_p.E853K|PCDHAC2_uc003lih.2_Missense_Mutation_p.E866K	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	910	4 X 4 AA repeats of P-X-X-P.				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)			AGAGGCAGGAGAAGTGTCCCC	0.512000														104			9		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156620	155156620	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:155156620C>T	uc003inw.2	-	24	7819	c.7819G>A	c.(7819-7821)Gtg>Atg	p.V2607M		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2607					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V2607M(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACAGGGACCACCTCGTTACTG	0.483000														111			10		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626147	140626147	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:140626147C>T	uc003lje.3	+	0	1001	c.1001C>T	c.(1000-1002)tCt>tTt	p.S334F		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	334	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCTGTCTCTGTTAAGGTG	0.423000														146			18		0	0	1	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5664747	5664747	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:5664747C>T	uc001mbh.3	+	7	1432	c.1275C>T	c.(1273-1275)tcC>tcT	p.S425S	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Silent_p.S779S|TRIM6-TRIM34_uc001mbi.3_Silent_p.S425S|TRIM6-TRIM34_uc009yer.3_Intron	NM_001003827	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens tripartite motif containing 34 (TRIM34), transcript variant 4, mRNA.	779						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		TGACTCTCTCCATGGCTGTGC	0.458000														144			11		0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	301750	301750	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:301750G>C	uc001qhz.3	-	15	2259	c.1595C>G	c.(1594-1596)cCg>cGg	p.P532R	SLC6A12_uc001qhy.3_Missense_Mutation_p.P88R|SLC6A12_uc001qia.3_Missense_Mutation_p.P532R|SLC6A12_uc001qib.3_Missense_Mutation_p.P532R|SLC6A12_uc009zdh.2_Missense_Mutation_p.P532R	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	532					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TCCCCAGGGCGGGTACACATA	0.562000														116			9		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711638	140711638	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:140711638G>A	uc003lji.2	+	0	1387	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	PCDHGC5_uc011dan.2_Missense_Mutation_p.E463K	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	465	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E463K(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACATTCCCGAAAACAACCC	0.468000														148			12		0	0	1	0	0
SERTAD2	9792	broad.mit.edu	37	2	64863636	64863636	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:64863636T>A	uc021viq.1	-	0	370	c.370A>T	c.(370-372)Acg>Tcg	p.T124S	SERTAD2_uc002sde.2_Missense_Mutation_p.T124S	NM_014755	NP_055570	Q14140	SRTD2_HUMAN	Homo sapiens SERTA domain containing 2 (SERTAD2), mRNA.	124					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						TCCAGGGGCGTAGTGCTTCCG	0.697000														59			8		0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390615	158390615	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:158390615G>A	uc010pii.2	-	0	42	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AGAAGCCGAGGAAGATGACCT	0.502000														75			21		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135745407	135745407	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:135745407C>T	uc002tue.1	-	6	1066	c.1035G>A	c.(1033-1035)agG>agA	p.R345R	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.R232R|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Silent_p.R73R|YSK4_uc002tui.4_Silent_p.R362R	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	345							ATP binding|protein serine/threonine kinase activity	p.R345R(1)		breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TATCCTCTTCCCTAACTGCAG	0.363000														78			5		0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39083584	39083584	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:39083584G>A	uc002rrf.3	-	6	1706	c.1607C>T	c.(1606-1608)tCc>tTc	p.S536F	DHX57_uc002rrd.4_5'Flank|DHX57_uc002rre.3_5'UTR|DHX57_uc002rrg.3_Missense_Mutation_p.S536F	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	536							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTGCAGAATGGACTGGAACTG	0.383000														123			8		0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78336975	78336975	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:78336975C>T	uc002jyh.2	+	40	11719	c.11576C>T	c.(11575-11577)tCc>tTc	p.S3859F	RNF213_uc021uen.1_Missense_Mutation_p.S3810F|LOC100294362_uc002jyi.2_Intron	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAAGAGGTTTCCTTACCGTGG	0.512000														85			8		0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712468	121712468	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:121712468G>A	uc003ees.3	-	6	1331	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	ILDR1_uc003eeq.3_Silent_p.F344F|ILDR1_uc003eer.3_Silent_p.F332F|ILDR1_uc010hrg.3_Silent_p.F287F	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	376						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GCTCCTGGTGGAAATCAGGGT	0.602000														75			5		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51025841	51025841	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr18:51025841G>A	uc002lfe.2	+	26	4688	c.4072G>A	c.(4072-4074)Gaa>Aaa	p.E1358K	DCC_uc010dpf.2_Missense_Mutation_p.E991K	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1358					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)		GAGTGCAATAGAACCGAAAGT	0.458000														129			22		0	0	1	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18766016	18766016	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:18766016C>T	uc010exr.3	-	3	605	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.E223K|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.E163K|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.E223K|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.E206K|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.E240K|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.E225K|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.E163K|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Missense_Mutation_p.E15K	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	223	Pro-rich.|Ser-rich.				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										TGGCGGATTTCCCGCACGATG	0.687000														29			3		0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50222238	50222238	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:50222238C>T	uc003cyj.3	+	12	1645	c.1447C>T	c.(1447-1449)Ctg>Ttg	p.L483L	SEMA3F_uc003cyk.3_Silent_p.L452L	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	483	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GGTGCTTTTCCTGGGCACAGG	0.682000														27			4		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926254	1926254	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:1926254C>T	uc002qxe.3	-	9	2114	c.1287G>A	c.(1285-1287)ggG>ggA	p.G429G	MYT1L_uc002qxd.3_Silent_p.G429G|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	429					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGGTCAGGTTCCCCTTGGTCA	0.552000														103			10		0	0	1	0	0
AGPAT3	56894	broad.mit.edu	37	21	45389065	45389065	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr21:45389065C>T	uc002zdx.3	+	5	1341	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L	AGPAT3_uc002zdv.3_Silent_p.L139L|AGPAT3_uc002zdw.3_Silent_p.L139L|AGPAT3_uc002zdy.3_Silent_p.L77L	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 3 (AGPAT3), transcript variant 1, mRNA.	139					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		GTGGTACTTTCTGGAGATTGT	0.612000														87			6		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54804704	54804704	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:54804704C>T	uc003pck.3	+	4	1051	c.935C>T	c.(934-936)tCa>tTa	p.S312L		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	312										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TCGGTGTCTTCATTAGCATCT	0.413000														92			12		0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629390	1629390	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:1629390C>T	uc001ltw.1	-	0	304	c.226G>A	c.(226-228)Ggc>Agc	p.G76S	MOB2_uc001ltq.2_Intron	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.	76	11 X 4 AA repeats of C-C-X-P.		G -> V (in dbSNP:rs7125826).			keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GAGCCACAGCCCCCCTTGCAG	0.677000														101			13		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215919341	215919341	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:215919341G>A	uc002vew.3	-	3	585	c.365C>T	c.(364-366)tCa>tTa	p.S122L	ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	122					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GCTCTGGAATGATAAACTGCT	0.393000														158			25		0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38157948	38157948	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:38157948C>T	uc003chp.1	+	27	3882	c.3861C>T	c.(3859-3861)atC>atT	p.I1287I	DLEC1_uc003cho.1_Silent_p.I1287I|DLEC1_uc010hgv.1_Silent_p.I1290I|DLEC1_uc003chr.1_Silent_p.I358I|DLEC1_uc010hgx.1_Non-coding_Transcript|DLEC1_uc003chs.1_5'Flank	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	1287					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)		CCCCAGACATCCGCCTGGATT	0.607000														53			4		0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587576	55587576	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:55587576C>T	uc010rin.2	+	0	471	c.471C>T	c.(469-471)tcC>tcT	p.S157S		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S157S(2)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCTCATGTTCCTTGGAACTGA	0.468000														236			17		0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117168646	117168646	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:117168646G>A	uc004biy.4	-	8	1716	c.1076C>T	c.(1075-1077)cCc>cTc	p.P359L	DFNB31_uc004bix.3_Missense_Mutation_p.P391L|DFNB31_uc004biz.4_Missense_Mutation_p.P742L|DFNB31_uc004bja.4_Missense_Mutation_p.P742L	NM_001083885	NP_001077354	Q9P202	WHRN_HUMAN	Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 2, mRNA.	742	PDZ 2.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCGCGTCTGGGGCAGCGCCCT	0.617000														124			8		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164700074	164700075	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:164700074_164700075CC>TT	uc003fei.3	-	46	5434_5435	c.5371_5372GG>AA	c.(5371-5373)gga>AAa	p.G1791K		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1791	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.G1791>?(2)|p.N1790N(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATTTTTATTTCCGTTATACGTT	0.356000										HNSCC(35;0.089)				32			5		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56370573	56370573	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:56370573C>T	uc002qmd.4	+	2	2236	c.1814C>T	c.(1813-1815)tCc>tTc	p.S605F	NLRP4_uc002qmf.3_Missense_Mutation_p.S530F|NLRP4_uc010etf.3_Missense_Mutation_p.S436F	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	605							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)		CTCTGTTTTTCCGTTCAAAAT	0.413000														80			9		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150440128	150440128	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:150440128C>T	uc022apw.1	+	5	1653	c.1513C>T	c.(1513-1515)Ctg>Ttg	p.L505L	GIMAP1-GIMAP5_uc003whr.2_Silent_p.L301L	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		CATTATTTTTCTGTTCATCTT	0.363000														52			7		0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	122013721	122013722	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:122013721_122013722GG>AA	uc001uat.3	-	2	418_419	c.314_315CC>TT	c.(313-315)ccc>cTT	p.P105L	KDM2B_uc001uas.3_Missense_Mutation_p.P74L|KDM2B_uc021rfd.1_Missense_Mutation_p.P74L|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Missense_Mutation_p.P105L|KDM2B_uc001uav.4_Missense_Mutation_p.P105L	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	105					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GAAATATCAGGGGAACCCTGAG	0.411000														103			6		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18847964	18847964	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:18847964C>T	uc021qvx.1	-	11	1532	c.1341G>A	c.(1339-1341)ggG>ggA	p.G447G	PLCZ1_uc001rdv.4_Silent_p.G343G|PLCZ1_uc001rdw.4_Silent_p.G188G|PLCZ1_uc001rdu.1_Silent_p.G229G|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	447	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CCAAAAATTTCCCATTTTGCA	0.348000														74			10		0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49738101	49738101	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:49738101G>A	uc003cxh.3	+	14	1322	c.1236G>A	c.(1234-1236)ctG>ctA	p.L412L	RNF123_uc010hky.1_Silent_p.L74L|RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	412						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TCGCCATCCTGAGGCATGAGA	0.607000														131			14		0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150501930	150501930	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:150501930G>A	uc003whx.1	+	6	760	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K		NM_018487	NP_060957	Q96HP8	T176A_HUMAN	Homo sapiens transmembrane protein 176A (TMEM176A), mRNA.	228						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGACCAGAAGGAAATGTTGGA	0.522000														117			16		0	0	1	0	0
CCNT1	904	broad.mit.edu	37	12	49087539	49087539	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:49087539G>A	uc001rsd.4	-	8	1781	c.1458C>T	c.(1456-1458)gtC>gtT	p.V486V	CCNT1_uc009zkz.2_Silent_p.V201V|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	486					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CTGCAGCATGGACTTTTATGC	0.433000														290			22		0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20198403	20198403	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:20198403G>A	uc003sus.4	-	4	1890	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	MACC1_uc010kug.3_Silent_p.I527I	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	527					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GAGCAGACTTGATTTCCTCCT	0.408000														166			19		0	0	1	0	0
ZNF622	90441	broad.mit.edu	37	5	16451855	16451855	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:16451855G>A	uc003jfq.3	-	5	1465	c.1345C>T	c.(1345-1347)Caa>Taa	p.Q449*		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	Homo sapiens zinc finger protein 622 (ZNF622), mRNA.	449						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTCATCCTTTGGACATACTGC	0.438000														107			16		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25284954	25284954	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr13:25284954C>T	uc010aaa.3	+	20	3273	c.2940C>T	c.(2938-2940)atC>atT	p.I980I	ATP12A_uc001upp.3_Silent_p.I974I	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	974					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GGGTGGGGATCACCTCACAGA	0.493000														52			7		0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151674031	151674031	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:151674031G>A	uc011eep.2	+	3	4745	c.4505G>A	c.(4504-4506)gGa>gAa	p.G1502E	AKAP12_uc003qoe.3_Missense_Mutation_p.G1502E|AKAP12_uc003qof.3_Missense_Mutation_p.G1404E|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Missense_Mutation_p.G1397E	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	1502					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GACCTGGAAGGAGAGAAAACC	0.498000														110			7		0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361650	105361650	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:105361650G>A	uc003ylx.1	+	1	919	c.870G>A	c.(868-870)agG>agA	p.R290R		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	290					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CTAAAGAAAGGAAAAACCTGG	0.493000														171			29		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46911083	46911083	+	Splice_Site	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:46911083C>T	uc001ndn.4	-	16	2336	c.2093_splice	c.e16-1	p.G698_splice		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	698	EGF-like 3.				Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AGCGGTTTTTCCCTGCTCAAA	0.567000											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		91			6		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55233031	55233031	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:55233031C>T	uc003tqk.3	+	14	2027	c.1781C>T	c.(1780-1782)aCc>aTc	p.T594I	EGFR_uc003tqi.3_Missense_Mutation_p.T594I|EGFR_uc003tqj.3_Missense_Mutation_p.T594I|EGFR_uc022adm.1_Missense_Mutation_p.T594I|EGFR_uc010kzg.2_Missense_Mutation_p.T549I|EGFR_uc022adn.1_Missense_Mutation_p.T549I|EGFR_uc011kco.2_Missense_Mutation_p.T541I|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	594					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCGTCAAGACCTGCCCGGCA	0.562000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				96			10		0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900446	123900446	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:123900446G>A	uc001pzp.1	+	0	117	c.117G>A	c.(115-117)ggG>ggA	p.G39G		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTGTGCTGGGGAACCTCCTCA	0.562000														190			15		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037393	75037393	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:75037393C>T	uc001dgg.3	-	13	4220	c.4001G>A	c.(4000-4002)gGa>gAa	p.G1334E		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1334	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AACCCTTCCTCCTCCCATGCC	0.572000														133			15		0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42187961	42187961	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:42187961T>C	uc002ori.1	-	2	463	c.461A>G	c.(460-462)aAc>aGc	p.N154S	CEACAM7_uc010ehx.2_Missense_Mutation_p.N154S|CEACAM7_uc010ehy.1_Intron	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.	154	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CGGATTGAAGTTGTTGCTGGT	0.512000														177			9		0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56949832	56949832	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:56949832C>T	uc001njl.2	+	0	612	c.465C>T	c.(463-465)gcC>gcT	p.A155A		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	125						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TCCTCCATGCCAAGCGCTTGG	0.582000														32			4		0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27731106	27731106	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:27731106G>A	uc002rky.3	+	15	1476	c.1410G>A	c.(1408-1410)ggG>ggA	p.G470G	GCKR_uc010ezd.3_Silent_p.G468G|GCKR_uc010ylu.2_Silent_p.G280G	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	470	SIS 2.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					AATATGAAGGGAACTTCATCC	0.493000														94			11		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117822079	117822079	+	Silent	SNP	A	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:117822079A>G	uc004bjj.4	-	13	4648	c.4236T>C	c.(4234-4236)ccT>ccC	p.P1412P	TNC_uc010mvf.3_Silent_p.P1412P|TNC_uc022bmj.1_Intron	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1412	Fibronectin type-III 9.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGACTCTATAAGGCGTGGCAG	0.582000														188			17		0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153128221	153128221	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:153128221G>A	uc004fjb.3	-	27	3779	c.3671C>T	c.(3670-3672)tCg>tTg	p.S1224L	L1CAM_uc004fjc.3_Missense_Mutation_p.S1220L|L1CAM_uc010nuo.3_Missense_Mutation_p.S1215L	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	1224			S -> L (in HSAS).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|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)					GCCAATGAACGAACCATCCTC	0.607000														53			5		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215919360	215919361	+	Missense_Mutation	DNP	CC	TT	TT	rs141700130	by1000genomes	TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:215919360_215919361CC>TT	uc002vew.3	-	3	565_566	c.345_346GG>AA	c.(343-348)ctggat>ctAAat	p.D116N	ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	116					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGTCCTTATCCAGGTTGGATG	0.396000														162			13		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100289011	100289011	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:100289011C>T	uc002taf.3	-	10	1351	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K	AFF3_uc002tag.3_Missense_Mutation_p.E378K|AFF3_uc010fiq.1_Missense_Mutation_p.E378K|AFF3_uc010yvr.1_Missense_Mutation_p.E532K|AFF3_uc002tah.1_Missense_Mutation_p.E403K	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	378					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGTTCATTCTCCTCTTCATCA	0.413000														172			7		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140308675	140308675	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:140308675C>T	uc003lih.2	+	0	2374	c.2198C>T	c.(2197-2199)tCa>tTa	p.S733L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.S733L	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	770					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)			AAGATGGTTTCAAATCCTTGC	0.478000														117			10		0	0	1	0	0
TFDP3	51270	broad.mit.edu	37	X	132351792	132351792	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:132351792C>T	uc004exb.1	-	0	585	c.496G>A	c.(496-498)Gat>Aat	p.D166N		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	Homo sapiens transcription factor Dp family, member 3 (TFDP3), mRNA.	166						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TTTAAGGCATCGTAGGTGCGC	0.507000														43			8		0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9783806	9783806	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:9783806C>T	uc002gmd.1	+	10	1257	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	419					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TACGACTTTTCATTCAGTTGA	0.403000														133			6		0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104079689	104079689	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:104079689C>T	uc004bbb.3	+	6	1255	c.856C>T	c.(856-858)Cct>Tct	p.P286S	LPPR1_uc011lvi.2_Missense_Mutation_p.P262S|LPPR1_uc004bbc.3_Missense_Mutation_p.P286S|LPPR1_uc010mtc.3_Missense_Mutation_p.P270S	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	286						integral to membrane	catalytic activity										GCAAGGATCTCCTTCCAAACC	0.498000														123			27		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87588164	87588164	+	Silent	SNP	T	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:87588164T>C	uc003ydx.3	-	17	2346	c.2298A>G	c.(2296-2298)gaA>gaG	p.E766E	CNGB3_uc010maj.3_Silent_p.E623E	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	766					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTGAGTGGGGTTCTTCCTCCA	0.458000														153			14		0	0	1	0	0
SUN2	25777	broad.mit.edu	37	22	39135880	39135880	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:39135880G>A	uc011anz.2	-	13	1581	c.1530C>T	c.(1528-1530)ctC>ctT	p.L510L	SUN2_uc011aoa.2_Silent_p.L464L|SUN2_uc003awh.2_Silent_p.L475L|SUN2_uc010gxq.2_Silent_p.L496L|SUN2_uc003awi.2_Silent_p.L475L|SUN2_uc010gxr.2_Silent_p.L475L	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 2 (SUN2), transcript variant 2, mRNA.	475					centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|endosome membrane|integral to membrane|nuclear inner membrane	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						CTCTCTGAAGGAGCCCCACGC	0.627000														151			9		0	0	1	0	0
OR2M1P	388762	broad.mit.edu	37	1	248285727	248285727	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:248285727C>T	uc001idy.1	+	0	290	c.290C>T	c.(289-291)tCc>tTc	p.S97F						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		GCCACATTTTCCTTCTCCTAC	0.428000														252			83		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168101495	168101495	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:168101495C>T	uc002udx.3	+	8	3682	c.3593C>T	c.(3592-3594)tCc>tTc	p.S1198F	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.S1023F|XIRP2_uc010fpq.3_Missense_Mutation_p.S976F|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1023					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGAGATGTTTCCAGCATGAGG	0.333000														83			8		0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158224935	158224935	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:158224935G>A	uc001frt.3	+	1	653	c.120G>A	c.(118-120)tgG>tgA	p.W40*	CD1A_uc021pbk.1_5'Flank	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	40					antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ACCATTCCTGGAAACAAAATC	0.498000														88			21		0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103234250	103234250	+	Missense_Mutation	SNP	C	T	T	rs62644499		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:103234250C>T	uc001tjq.1	-	11	1716	c.1243G>A	c.(1243-1245)Gac>Aac	p.D415N		NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	415			D -> N (in non-PKU HPA; haplotype 1).		L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GTGTATGGGTCGTAGCGAACT	0.463000														102			7		0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41574339	41574339	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:41574339T>A	uc003azl.4	+	30	7019	c.6624T>A	c.(6622-6624)caT>caA	p.H2208Q		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	2208	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGGCCAACCATAACCAGTTCC	0.532000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					98			8		0	0	1	0	0
TMEM48	55706	broad.mit.edu	37	1	54272139	54272140	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:54272139_54272140GG>AA	uc001cvs.3	-	8	1233_1234	c.942_943CC>TT	c.(940-945)tgcctt>tgTTtt	p.L315F	TMEM48_uc010onu.2_Missense_Mutation_p.L275F|TMEM48_uc001cvt.3_Missense_Mutation_p.L192F|TMEM48_uc009vzk.3_Non-coding_Transcript|TMEM48_uc010onv.2_5'UTR	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA.	315					mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						ACTTTTGGAAGGCACTCATCTG	0.347000														51			5		0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121413501	121413501	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:121413501C>T	uc010hrc.3	-	12	5995	c.5869G>A	c.(5869-5871)Gag>Aag	p.E1957K	GOLGB1_uc003eei.4_Missense_Mutation_p.E1952K|GOLGB1_uc003eej.4_Missense_Mutation_p.E1918K|GOLGB1_uc021xcy.1_Missense_Mutation_p.E1877K|GOLGB1_uc011bjm.1_Missense_Mutation_p.E1838K|GOLGB1_uc010hrd.1_Missense_Mutation_p.E1916K	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	1952					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCCAATAGCTCATTTTTTATT	0.358000														214			20		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51095563	51095563	+	Missense_Mutation	SNP	C	T	T	rs145913196		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:51095563C>T	uc003tps.3	-	10	3586	c.3401G>A	c.(3400-3402)gGa>gAa	p.G1134E	COBL_uc003tpr.4_Missense_Mutation_p.G1077E|COBL_uc011kcl.2_Missense_Mutation_p.G1077E|COBL_uc003tpp.4_Missense_Mutation_p.G863E|COBL_uc003tpq.4_Missense_Mutation_p.G1018E|COBL_uc003tpo.4_Missense_Mutation_p.G619E	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	1077										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGTTTCATTTCCATCTGTAGA	0.512000														147			11		0	0	1	0	0
HTR3E	285242	broad.mit.edu	37	3	183818289	183818289	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:183818289C>T	uc010hxr.3	+	0	323	c.129C>T	c.(127-129)ttC>ttT	p.F43F	HTR3E_uc010hxq.3_Silent_p.F28F|HTR3E_uc003fml.4_Silent_p.F28F|HTR3E_uc003fmm.3_Silent_p.F43F|HTR3E_uc003fmn.3_Silent_p.F43F	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	28						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.T42P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GCGTTACTTTCACCATCAATT	0.557000														237			33		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174737	150174737	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:150174737G>A	uc003whj.3	+	4	2197	c.1867G>A	c.(1867-1869)Gat>Aat	p.D623N		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	623						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AAAGGTCAATGATCTGAGAAA	0.438000														153			10		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13811764	13811764	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:13811764G>A	uc003jfd.2	-	43	7441	c.7399C>T	c.(7399-7401)Cct>Tct	p.P2467S		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2467					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I2466S(1)		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)					ACCTTCAGAGGAATCAGGCCT	0.403000									Kartagener syndrome					79			9		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141250219	141250219	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:141250219C>T	uc002tvj.1	-	56	10050	c.9078G>A	c.(9076-9078)agG>agA	p.R3026R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3026					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGCTAATTTTCCTTATCTCAT	0.353000										TSP Lung(27;0.18)				87			17		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424395	56424395	+	Missense_Mutation	SNP	G	A	A	rs137923694		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:56424395G>A	uc010ygg.2	-	4	813	c.788C>T	c.(787-789)tCc>tTc	p.S263F		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	263	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GAAAACATAGGAGAACCTTTG	0.468000														125			9		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42034879	42034879	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:42034879C>T	uc010ucy.2	+	14	4902	c.4721C>T	c.(4720-4722)cCa>cTa	p.P1574L	MGA_uc010ucz.2_Intron|MGA_uc010uda.1_Missense_Mutation_p.P190L	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1574						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AGACCTTCTCCAGTAATGGTC	0.498000														50			11		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684875	100684875	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:100684875G>A	uc003uxp.1	+	2	10231	c.10178G>A	c.(10177-10179)aGt>aAt	p.S3393N	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3393	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAACCTCAAGTCCTAGTGAA	0.502000														772			106		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71015355	71015355	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:71015355G>A	uc002ezr.3	-	28	4597	c.4446C>T	c.(4444-4446)atC>atT	p.I1482I		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1483										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)				CGCTCAGAGTGATATTTTCTG	0.483000														96			12		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57734655	57734655	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:57734655G>A	uc010bfw.3	+	4	1975	c.1782G>A	c.(1780-1782)ggG>ggA	p.G594G	CGNL1_uc002aeg.3_Silent_p.G594G	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	594						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GAGCAGCTGGGAGCGCCCAAG	0.403000														96			10		0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21453500	21453500	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:21453500T>C	uc001rer.3	-	6	943	c.692A>G	c.(691-693)gAt>gGt	p.D231G	SLCO1A2_uc010siq.2_Missense_Mutation_p.D99G|SLCO1A2_uc001res.3_Missense_Mutation_p.D231G|SLCO1A2_uc010sio.2_Missense_Mutation_p.D99G|SLCO1A2_uc010sip.2_Missense_Mutation_p.D99G|SLCO1A2_uc001ret.3_Missense_Mutation_p.D229G|SLCO1A2_uc001reu.2_Missense_Mutation_p.D211G	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	231					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TATGATCAGATCATCTGTAAA	0.378000														25			4		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10296301	10296301	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:10296301C>T	uc002gmm.2	-	36	5405	c.5310G>A	c.(5308-5310)gaG>gaA	p.E1770E	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1770					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCTTCAGCTCCTCAGCCATCA	0.488000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					216			8		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140745901	140745901	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:140745901C>T	uc003lju.2	+	0	2004	c.2004C>T	c.(2002-2004)atC>atT	p.I668I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Silent_p.I668I	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	670	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGACAGGATCCCTGACATCC	0.612000														343			43		0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344906	20344906	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:20344906C>T	uc001vwh.1	+	0	480	c.480C>T	c.(478-480)gtC>gtT	p.V160V		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGAGTCAGGTCATATTTGCCC	0.488000														286			44		0	0	1	0	0
OR1E2	8388	broad.mit.edu	37	17	3336752	3336752	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:3336752G>A	uc010vre.2	-	0	384	c.384C>T	c.(382-384)ttC>ttT	p.F128F		NM_003554	NP_003545	P47887	OR1E2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily E, member 2 (OR1E2), mRNA.	128					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						AGTGCATGGGGAAGCAGATGG	0.557000														45			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060272	9060272	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:9060272G>A	uc002mkp.3	-	2	27378	c.27174C>T	c.(27172-27174)tcC>tcT	p.S9058S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9060	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCACTTCAGTGGATATGTCTT	0.502000														129			21		0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184072079	184072079	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:184072079C>T	uc003foi.3	-	14	1655	c.1531G>A	c.(1531-1533)Gtg>Atg	p.V511M	CLCN2_uc003foh.3_Missense_Mutation_p.V35M|CLCN2_uc010hya.2_Missense_Mutation_p.V494M|CLCN2_uc011brl.2_Missense_Mutation_p.V511M|CLCN2_uc011brm.2_Missense_Mutation_p.V467M	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	511						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GTGTGTGTCACCGCTCCTGCC	0.622000											OREG0015949	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			5		0	0	1	0	0
TRAF5	7188	broad.mit.edu	37	1	211545936	211545937	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:211545936_211545937CC>TT	uc010psx.2	+	10	1684_1685	c.1599_1600CC>TT	c.(1597-1602)ccccgc>ccTTgc	p.R534C	TRAF5_uc001hih.3_Missense_Mutation_p.R523C|TRAF5_uc001hii.3_Missense_Mutation_p.R523C|TRAF5_uc010psy.2_Missense_Mutation_p.R417C|TRAF5_uc001hij.3_Missense_Mutation_p.R523C	NM_001033910	NP_665702	O00463	TRAF5_HUMAN	Homo sapiens TNF receptor-associated factor 5 (TRAF5), transcript variant 3, mRNA.	523	MATH.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		CTGGCTGTCCCCGCTTTGTGGC	0.465000														89			22		0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68396959	68396959	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:68396959G>A	uc003xxq.4	-	6	958	c.702C>T	c.(700-702)atC>atT	p.I234I	CPA6_uc003xxr.4_Silent_p.I86I|CPA6_uc003xxs.2_Silent_p.I234I	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	234					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			ACACAGGCATGATATAGAAAT	0.338000														67			4		0	0	1	0	0
DHX32	55760	broad.mit.edu	37	10	127548267	127548267	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:127548267G>A	uc001ljf.1	-	2	1245	c.754C>T	c.(754-756)Caa>Taa	p.Q252*	DHX32_uc001ljg.1_Nonsense_Mutation_p.Q252*|DHX32_uc009yam.1_Nonsense_Mutation_p.Q88*	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 32 (DHX32), mRNA.	252						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GAATCCTTTTGAGCCTCACTA	0.408000														145			7		0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120350842	120350842	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:120350842C>T	uc001pxl.2	+	37	4275	c.3940C>T	c.(3940-3942)Ccc>Tcc	p.P1314S	ARHGEF12_uc009zat.3_Missense_Mutation_p.P1295S|ARHGEF12_uc009zau.1_Missense_Mutation_p.P1211S	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	1314					G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AGGACATATGCCCTTTAGAAC	0.483000			T	MLL	AML									172			7		0	0	1	0	0
AMHR2	269	broad.mit.edu	37	12	53818527	53818527	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:53818527C>T	uc001scx.2	+	2	347	c.267C>T	c.(265-267)tcC>tcT	p.S89S	AMHR2_uc009zmy.2_Silent_p.S89S|AMHR2_uc021qyg.1_Silent_p.S89S	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	89					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GCTGTGAGTCCCTCCACTGTG	0.582000														87			20		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135427354	135427354	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:135427354G>A	uc004ezu.1	+	5	1780	c.1489G>A	c.(1489-1491)Gat>Aat	p.D497N	GPR112_uc010nsb.1_Missense_Mutation_p.D292N|GPR112_uc010nsc.1_Missense_Mutation_p.D264N	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	497					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)					GGCAACAACTGATATGAAAAT	0.448000														54			12		0	0	1	0	0
PEX1	5189	broad.mit.edu	37	7	92146608	92146608	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:92146608G>A	uc003uly.3	-	4	1317	c.1221C>T	c.(1219-1221)ctC>ctT	p.L407L	PEX1_uc011khr.2_Silent_p.L199L|PEX1_uc010ley.3_Silent_p.L407L|PEX1_uc011khs.2_Intron|PEX1_uc011kht.1_Non-coding_Transcript	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	407					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	p.L407L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCCCAAGATGGAGAACTTCTA	0.328000														88			22		0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128760	83128760	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:83128760G>A	uc004eei.1	+	3	1065	c.1044G>A	c.(1042-1044)aaG>aaA	p.K348K	CYLC1_uc004eeh.1_Silent_p.K347K	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	348					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						aagatacaaagaaggataaga	0.358000														16			5		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20999054	20999054	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:20999054C>T	uc010vbe.2	-	45	6843	c.6843G>A	c.(6841-6843)gtG>gtA	p.V2281V	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2281	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCCCTTGAATCACTCGTGAGA	0.463000														67			13		0	0	1	0	0
TARDBP	23435	broad.mit.edu	37	1	11077051	11077051	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:11077051T>C	uc001art.3	+	2	523	c.389T>C	c.(388-390)gTt>gCt	p.V130A	TARDBP_uc010oap.2_Intron	NM_007375	NP_031401	Q13148	TADBP_HUMAN	Homo sapiens TAR DNA binding protein (TARDBP), mRNA.	130	RRM 1.				3'-UTR-mediated mRNA stabilization|RNA splicing|cell death|mRNA processing|negative regulation by host of viral transcription|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		TTTGGAGAAGTTCTTATGGTG	0.368000														106			16		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13735936	13735936	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:13735936G>A	uc003jfd.2	-	66	11603	c.11561C>T	c.(11560-11562)tCc>tTc	p.S3854F	DNAH5_uc003jfc.2_Missense_Mutation_p.S22F	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3854					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)					CCTGGCTAAGGAAAGGTCAAA	0.443000									Kartagener syndrome					146			12		0	0	1	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122334781	122334781	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:122334781C>T	uc001lev.1	+	5	936	c.584C>T	c.(583-585)tCc>tTc	p.S195F	PPAPDC1A_uc010qtd.2_Missense_Mutation_p.S195F|PPAPDC1A_uc009xzl.1_Missense_Mutation_p.S132F|PPAPDC1A_uc001lew.1_3'UTR|PPAPDC1A_uc001lex.1_Intron|PPAPDC1A_uc001ley.1_Missense_Mutation_p.S74F	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 1A (PPAPDC1A), mRNA.	195	Phosphatase sequence motif III.				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	p.S195S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		ATTGCCCTGTCCCGCATGTGC	0.622000														76			9		0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685005	248685005	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:248685005C>T	uc001ien.1	+	0	58	c.58C>T	c.(58-60)Cag>Tag	p.Q20*		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATTTTCAGATCAGCCTCAGCT	0.443000														145			44		0	0	1	0	0
TFAP2C	7022	broad.mit.edu	37	20	55211768	55211768	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:55211768G>A	uc002xya.3	+	5	1268	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	TFAP2C_uc010zzi.2_Missense_Mutation_p.R173Q	NM_003222	NP_003213	Q92754	AP2C_HUMAN	Homo sapiens transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) (TFAP2C), mRNA.	342	H-S-H (helix-span-helix), dimerization.				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			CTTGGAGGACGAAATGAGATG	0.443000														80			15		0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35922942	35922942	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:35922942A>G	uc003olm.3	-	16	2330	c.2219T>C	c.(2218-2220)gTc>gCc	p.V740A	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.V322A|SLC26A8_uc003oll.3_Missense_Mutation_p.V635A|SLC26A8_uc003oln.3_Missense_Mutation_p.V740A	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	740	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	p.V740V(3)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TCTTAATACGACTAACCCCCG	0.512000														112			7		0	0	1	0	0
CLDN11	5010	broad.mit.edu	37	3	170150390	170150390	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:170150390C>T	uc003fgx.3	+	2	672	c.470C>T	c.(469-471)tCc>tTc	p.S157F	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fgy.3_Missense_Mutation_p.S73F	NM_005602	NP_001171985	O75508	CLD11_HUMAN	Homo sapiens claudin 11 (CLDN11), transcript variant 1, mRNA.	157					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TTTGGCTACTCCCTGTATGCA	0.602000														137			17		0	0	1	0	0
OR6C6	283365	broad.mit.edu	37	12	55688295	55688295	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:55688295G>A	uc010sph.2	-	0	722	c.722C>T	c.(721-723)tCc>tTc	p.S241F		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AATCATGTGGGAAGTACAGGT	0.378000														109			11		0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89084266	89084266	+	RNA	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:89084266C>T	uc010fhf.3	+	5		c.528C>T			ANKRD36BP2_uc010fhg.3_Non-coding_Transcript|ANKRD36BP2_uc010fhh.3_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 36B pseudogene 2 (ANKRD36BP2), non-coding RNA.																		GATTCTGTTTCAAATATAGCC	0.338000														34			5		0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10783684	10783684	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:10783684G>A	uc001qys.2	-	4	932	c.411C>T	c.(409-411)gaC>gaT	p.D137D		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	137	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						GCTTAGAAGGGTCCCCAGTGT	0.483000										HNSCC(73;0.22)				85			15		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804870	27804870	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:27804870G>A	uc002rkz.4	+	0	5482	c.5431G>A	c.(5431-5433)Gag>Aag	p.E1811K	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1811	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									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)					CAGTCCCTTGGAGAGGAGCCG	0.537000														254			14		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476176	120476176	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:120476176C>T	uc004bjz.3	+	2	2061	c.1770C>T	c.(1768-1770)ttC>ttT	p.F590F	TLR4_uc004bkb.3_Silent_p.F390F|TLR4_uc004bka.3_Silent_p.F550F	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	590	LRRCT.				I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ACCAGAGTTTCCTGCAATGGA	0.433000														55			10		0	0	1	0	0
E2F5	1875	broad.mit.edu	37	8	86121519	86121519	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:86121519C>T	uc003ycz.4	+	5	795	c.758C>T	c.(757-759)tCc>tTc	p.S253F	E2F5_uc003yda.4_Missense_Mutation_p.S253F|E2F5_uc010mab.3_Missense_Mutation_p.S92F	NM_001951	NP_001077058	Q15329	E2F5_HUMAN	Homo sapiens E2F transcription factor 5, p130-binding (E2F5), transcript variant 1, mRNA.	253					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						ACACAGCCTTCCTCCCAGTCC	0.498000														70			25		0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133053897	133053897	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:133053897G>A	uc003ytg.2	-	2	171	c.171C>T	c.(169-171)ttC>ttT	p.F57F	OC90_uc011lix.1_Silent_p.F73F	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	73					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TCAGCACAGGGAAATTGGTGA	0.557000														30			10		0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101065094	101065094	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:101065094G>A	uc003yjb.1	-	9	1820	c.1625C>T	c.(1624-1626)cCa>cTa	p.P542L	RGS22_uc003yja.1_Missense_Mutation_p.P361L|RGS22_uc003yjc.1_Missense_Mutation_p.P530L|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.P446L	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	542					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TGCCATTTGTGGAAAAGGGTC	0.433000														150			39		0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30824022	30824022	+	Silent	SNP	T	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:30824022T>C	uc001rjd.3	-	8	1266	c.918A>G	c.(916-918)ctA>ctG	p.L306L	IPO8_uc010sjt.2_Silent_p.L101L	NM_006390	NP_006381	O15397	IPO8_HUMAN	Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.	306					intracellular protein transport|signal transduction	cytoplasm|nucleus	Ran GTPase binding|protein transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTAAAATTTTTAGTAGCACCT	0.353000														76			11		0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86266485	86266485	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:86266485G>A	uc002sqs.3	-	25	4220	c.3841C>T	c.(3841-3843)Ctg>Ttg	p.L1281L	POLR1A_uc010ytb.2_Silent_p.L647L|POLR1A_uc002sqt.1_Silent_p.L304L	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	1281					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TGCTTCTTCAGGCTTTTCACT	0.552000														297			15		0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344704	20344704	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:20344704C>T	uc001vwh.1	+	0	278	c.278C>T	c.(277-279)tCt>tTt	p.S93F		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S93F(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAAACCATCTCTTTTGATGGC	0.393000														216			20		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542388	179542388	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179542388G>A	uc021vsy.1	-	142	30744	c.30519C>T	c.(30517-30519)gtC>gtT	p.V10173V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.V6834V|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11100	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCTGGAAGGACTTCTTCTT	0.438000														67			15		0	0	1	0	0
OPN3	23596	broad.mit.edu	37	1	241761112	241761112	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:241761112G>A	uc001hza.3	-	2	1026	c.881C>T	c.(880-882)tCg>tTg	p.S294L	OPN3_uc001hzb.3_Non-coding_Transcript|OPN3_uc001hzc.3_Non-coding_Transcript	NM_014322	NP_055137	Q9H1Y3	OPN3_HUMAN	Homo sapiens opsin 3 (OPN3), mRNA.	294					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AAAGAGGTACGAAACAATAGA	0.398000														128			7		0	0	1	0	0
ZNF7	7553	broad.mit.edu	37	8	146067427	146067427	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:146067427G>A	uc010mge.3	+	4	1105	c.968G>A	c.(967-969)gGa>gAa	p.G323E	ZNF7_uc003zeg.4_Missense_Mutation_p.G312E|ZNF7_uc011lln.2_Missense_Mutation_p.G216E|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.4_Missense_Mutation_p.G216E|COMMD5_uc003zel.1_Intron	NM_003416	NP_003407	P17097	ZNF7_HUMAN	Homo sapiens zinc finger protein 7 (ZNF7), mRNA.	312					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		GAGGAATGTGGAAAAGCTTTT	0.498000														112			24		0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87076824	87076824	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:87076824G>A	uc011lfy.2	-	1	222	c.222C>T	c.(220-222)ttC>ttT	p.F74F		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	74	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CAACCCTGCTGAAACTGCCTG	0.428000														96			22		0	0	1	0	0
TMEM161B	153396	broad.mit.edu	37	5	87564667	87564667	+	Splice_Site	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:87564667G>A	uc003kjc.3	-	1	1	c.-124_splice	c.e1-1		TMEM161B_uc011cty.2_Splice_Site|TMEM161B_uc010jax.3_Splice_Site|TMEM161B_uc011ctz.1_Splice_Site|TMEM161B-AS1_uc003kjd.3_5'Flank|TMEM161B-AS1_uc021ybc.1_5'Flank|TMEM161B-AS1_uc021ybd.1_5'Flank|TMEM161B-AS1_uc003kje.3_5'Flank	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN	Homo sapiens transmembrane protein 161B (TMEM161B), mRNA.							integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		GGCTCTGCCGGAAGTTGTGCG	0.617000														35			5		0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920725	4920725	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:4920725G>A	uc001qng.3	+	0	2384	c.1518G>A	c.(1516-1518)cgG>cgA	p.R506R	KCNA6_uc021qtr.1_Silent_p.R506R	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	506						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						AGGCTAACCGGGAACGGAGAC	0.612000										HNSCC(72;0.22)				97			18		0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49162254	49162254	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:49162254G>A	uc003cwe.3	-	20	3288	c.2989C>T	c.(2989-2991)Cct>Tct	p.P997S	LAMB2_uc003cwf.1_Missense_Mutation_p.P997S	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	997	Laminin EGF-like 10.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGGCATCAGGATCCATTGGG	0.612000														72			6		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508651	37508651	+	Silent	SNP	A	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:37508651A>G	uc021ppc.1	+	33	3942	c.3843A>G	c.(3841-3843)ttA>ttG	p.L1281L	ANKRD30A_uc001iza.1_Silent_p.L1281L	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1337						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AACAGCAATTAGTTCATGCAC	0.333000														35			8		0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129521355	129521355	+	Silent	SNP	T	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:129521355T>C	uc003kvd.3	+	2	2520	c.2520T>C	c.(2518-2520)ccT>ccC	p.P840P		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.	840						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		ATTGTGATCCTAACTTGGACC	0.418000														88			9		0	0	1	0	0
TIMP1	7076	broad.mit.edu	37	X	47444666	47444666	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:47444666C>T	uc004dif.3	+	3	456	c.264C>T	c.(262-264)gcC>gcT	p.A88A	SYN1_uc004did.3_Intron|SYN1_uc004die.3_Intron|TIMP1_uc011mlr.1_Missense_Mutation_p.P12L|TIMP1_uc010nht.1_Missense_Mutation_p.P12L|MIR4769_uc022bvo.1_5'Flank	NM_003254	NP_003245	P01033	TIMP1_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 1 (TIMP1), mRNA.	88	NTR.				erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(1)|large_intestine(2)	3						ACACCCCCGCCATGGAGAGTG	0.567000														17			6		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38573180	38573180	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:38573180G>A	uc002ohk.3	+	2	1484	c.975G>A	c.(973-975)cgG>cgA	p.R325R		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	325					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACGAGGGCCGGAGCCCCCCGG	0.682000														31			7		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21139336	21139336	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:21139336C>T	uc001iqi.3	-	10	1501	c.1104G>A	c.(1102-1104)aaG>aaA	p.K368K	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.	368					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						CACTTTGCATCTTTTGAGCCT	0.338000														75			5		0	0	1	0	0
CSDAP1	440359	broad.mit.edu	37	16	31580496	31580496	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:31580496C>T	uc010vfr.1	-	0	350	c.323G>A	c.(322-324)cGa>cAa	p.R108Q						Homo sapiens cold shock domain protein A pseudogene 1 (CSDAP1), non-coding RNA.																		GGTGTCATTTCGATTTATAAA	0.433000														60			10		0	0	1	0	0
SLC35G6	643664	broad.mit.edu	37	17	7385367	7385367	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:7385367C>T	uc010cmj.1	+	1	179	c.64C>T	c.(64-66)Cca>Tca	p.P22S	ZBTB4_uc002ghc.4_5'Flank|ZBTB4_uc002ghd.4_Intron|POLR2A_uc002ghe.3_5'Flank|POLR2A_uc002ghf.4_5'Flank	NM_001102614	NP_001096084	P0C7Q6	AMCL3_HUMAN	Homo sapiens solute carrier family 35, member G6 (SLC35G6), mRNA.	22						integral to membrane											GCCCTCCGCTCCACCCAGCCT	0.672000														70			5		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277232	152277232	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:152277232C>T	uc001ezu.1	-	2	10166	c.10130G>A	c.(10129-10131)gGg>gAg	p.G3377E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3377	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCTTCCCCCTGACCGGTC	0.592000									Ichthyosis					664			28		0	0	1	0	0
GPR176	11245	broad.mit.edu	37	15	40099227	40099227	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:40099227G>A	uc001zkj.1	-	1	1271	c.405C>T	c.(403-405)ttC>ttT	p.F135F	GPR176_uc010uck.1_Silent_p.F75F	NM_007223	NP_009154	Q14439	GP176_HUMAN	Homo sapiens G protein-coupled receptor 176 (GPR176), mRNA.	135					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CAATAGCAGGGAAGCTGAGGA	0.418000														260			13		0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142567124	142567124	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:142567124G>A	uc003evd.3	-	2	690	c.383C>T	c.(382-384)tCt>tTt	p.S128F		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer 2 (PCOLCE2), mRNA.	128	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GTTGGCATCAGAAATCATCTG	0.512000														86			15		0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39491254	39491254	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:39491254C>T	uc003thb.2	+	8	1499	c.1356C>T	c.(1354-1356)tcC>tcT	p.S452S	POU6F2_uc022acb.1_Silent_p.S452S	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	452	Ser-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						cttcttcctcctcatcctcct	0.537000														14			4		0	0	1	0	0
FGF18	8817	broad.mit.edu	37	5	170863198	170863198	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:170863198C>T	uc003mbk.3	+	2	708	c.171C>T	c.(169-171)ctC>ctT	p.L57L		NM_003862	NP_003853	O76093	FGF18_HUMAN	Homo sapiens fibroblast growth factor 18 (FGF18), mRNA.	57					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGTACCAGCTCTACAGCCGGA	0.627000														23			8		0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150868507	150868507	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:150868507G>A	uc022cgt.1	+	2	96	c.47G>A	c.(46-48)cGa>cAa	p.R16Q	PRRG3_uc004few.2_Missense_Mutation_p.R16Q	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	16						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCTGAAACGATTCCCTCGT	0.587000														31			6		0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143826566	143826566	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:143826566C>T	uc011kua.2	+	0	361	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GTCCTATGATCGCTATGCGGA	0.488000														296			26		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188595	140188595	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:140188595C>T	uc003lhi.2	+	0	1924	c.1823C>T	c.(1822-1824)tCg>tTg	p.S608L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.S608L|PCDHAC2_uc011daa.2_Missense_Mutation_p.S608L	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	621	Cadherin 6.				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)			GCGTGGCTTTCGTACGAGCTG	0.677000														106			17		0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125145998	125145998	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:125145998G>A	uc004bmg.1	+	7	1108	c.973G>A	c.(973-975)Gag>Aag	p.E325K	PTGS1_uc011lys.1_Missense_Mutation_p.E300K|PTGS1_uc010mwb.1_Missense_Mutation_p.E216K|PTGS1_uc004bmf.1_Missense_Mutation_p.E325K|PTGS1_uc004bmh.1_Missense_Mutation_p.E216K|PTGS1_uc011lyt.1_Missense_Mutation_p.E216K	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	325					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	p.E325K(1)		large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	CTGGGGCGATGAGCAGCTTTT	0.612000														50			8		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382647	22382647	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:22382647C>T	uc001yuc.1	+	6	1156	c.175C>T	c.(175-177)Ctc>Ttc	p.L59F	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Missense_Mutation_p.L59F	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P58S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CACAGCCCCCCTCTATTTATT	0.453000														404			23		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197313597	197313597	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:197313597G>A	uc001gtz.3	+	2	1048	c.839G>A	c.(838-840)gGa>gAa	p.G280E	CRB1_uc010poz.2_Missense_Mutation_p.G211E|CRB1_uc001gty.2_Missense_Mutation_p.G280E|CRB1_uc009wza.3_Intron|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.G280E|CRB1_uc010ppc.1_Non-coding_Transcript	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	280	EGF-like 7; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGTGTGGATGGAGAAAACAGG	0.488000														148			8		0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40070007	40070007	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:40070007C>T	uc002hyg.3	-	1	283	c.120G>A	c.(118-120)tgG>tgA	p.W40*	ACLY_uc002hyh.3_Nonsense_Mutation_p.W40*|ACLY_uc002hyi.3_Nonsense_Mutation_p.W94*|ACLY_uc010wfx.2_Nonsense_Mutation_p.W94*|ACLY_uc010wfy.2_Nonsense_Mutation_p.W40*	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	40					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GCAAGCGGGCCCAGTCTGTGT	0.587000														110			9		0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657979	72657979	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:72657979G>A	uc003txs.1	-	12	1933	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		ccaaggattcgaaaaatctct	0.507000														139			15		0	0	1	0	0
EMP2	2013	broad.mit.edu	37	16	10626871	10626871	+	Missense_Mutation	SNP	G	A	A	rs141680568	byFrequency	TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:10626871G>A	uc002czx.3	-	4	589	c.395C>T	c.(394-396)cCc>cTc	p.P132L		NM_001424	NP_001415	P54851	EMP2_HUMAN	Homo sapiens epithelial membrane protein 2 (EMP2), mRNA.	132					cell proliferation	integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						TCTGGTCACGGGATAGAATTT	0.512000														109			9		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28543634	28543634	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:28543634C>T	uc003nlo.3	-	2	1466	c.848G>A	c.(847-849)gGa>gAa	p.G283E		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	283					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CTTCTCATTTCCTTGTACAAG	0.378000														199			10		0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558339	106558339	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:106558339G>A	uc009yxn.1	-	8	2618	c.2228C>T	c.(2227-2229)tCg>tTg	p.S743L	GUCY1A2_uc001pjg.1_Missense_Mutation_p.S712L|GUCY1A2_uc010rvo.1_Missense_Mutation_p.S733L	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	712					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.S712L(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TATTCTCGACGAAGAAAGAGA	0.478000														120			9		0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213113	9213113	+	Silent	SNP	C	T	T	rs146853637		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:9213113C>T	uc010xkk.2	-	0	870	c.870G>A	c.(868-870)agG>agA	p.R290R		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R290R(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						CTGCAGTCTTCCTAGGTGAGT	0.463000														93			8		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142649655	142649655	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:142649655G>A	uc003wcb.3	-	9	1354	c.1144C>T	c.(1144-1146)Cag>Tag	p.Q382*		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	382			Q -> R (in KEL23 antigen).		proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CGTGCCTCCTGGAATTGACTG	0.532000														66			10		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10415819	10415819	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:10415819G>A	uc002gmo.3	-	11	1147	c.1053C>T	c.(1051-1053)tcC>tcT	p.S351S	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	351	Myosin head-like.					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						GCTTATAGATGGACACTCTTT	0.438000														117			14		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135483	55135483	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:55135483C>T	uc010rif.2	+	0	124	c.124C>T	c.(124-126)Ctc>Ttc	p.L42F		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TGAATTTATCCTCTTAGGGCT	0.403000														78			5		0	0	1	0	0
RNF133	168433	broad.mit.edu	37	7	122338652	122338652	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:122338652C>T	uc003vkj.1	-	0	557	c.321G>A	c.(319-321)cgG>cgA	p.R107R	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	Homo sapiens ring finger protein 133 (RNF133), mRNA.	107	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	p.R107P(2)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TACAACCTCCCCGTTCAATAA	0.453000														185			22		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963728	73963728	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:73963728T>G	uc004eby.3	-	2	1281	c.664A>C	c.(664-666)Aaa>Caa	p.K222Q		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	222					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ATGTCAGGTTTCTCAGTTTCT	0.458000														86			21		0	0	1	0	0
BBS10	79738	broad.mit.edu	37	12	76740176	76740176	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:76740176C>T	uc001syd.1	-	1	1673	c.1589G>A	c.(1588-1590)aGa>aAa	p.R530K		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Homo sapiens Bardet-Biedl syndrome 10 (BBS10), mRNA.	530					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						TAGCCTGTTTCTTTCCAAAGA	0.348000									Bardet-Biedl syndrome					122			8		0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	174974297	174974297	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:174974297G>A	uc003fit.3	+	3	1004	c.917G>A	c.(916-918)gGa>gAa	p.G306E	NAALADL2_uc003fiu.1_Missense_Mutation_p.G299E|NAALADL2_uc010hwy.1_Missense_Mutation_p.G128E|NAALADL2_uc010hwz.1_5'UTR	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	306					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CTGAAATTAGGAAAATTGCCA	0.358000														47			8		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50758484	50758484	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:50758484G>A	uc021vhh.1	-	9	3149	c.2228C>T	c.(2227-2229)tCc>tTc	p.S743F	NRXN1_uc002rxb.4_Missense_Mutation_p.S415F|NRXN1_uc021vhg.1_Missense_Mutation_p.S783F|NRXN1_uc021vhi.1_Missense_Mutation_p.S779F|NRXN1_uc021vhj.1_Missense_Mutation_p.S739F|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	743	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAACCGTAAGGAAACATCCTC	0.512000														21			5		0	0	1	0	0
C1orf49	84066	broad.mit.edu	37	1	178490357	178490357	+	Splice_Site	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:178490357G>A	uc001glt.2	+	8	656	c.544_splice	c.e8-1	p.E182_splice	C1orf49_uc021pfd.1_Splice_Site_p.E182_splice|C1orf49_uc001glu.1_3'UTR|C1orf49_uc021pfe.1_Splice_Site_p.E182_splice|C1orf49_uc001glw.2_Splice_Site_p.E190_splice|C1orf49_uc001glv.1_Splice_Site	NM_032126	NP_115502	Q5T0J7	CA049_HUMAN	Homo sapiens chromosome 1 open reading frame 49 (C1orf49), transcript variant 1, mRNA.	182						microtubule cytoskeleton				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|skin(1)	13						TCCTCTGCAGGAGAAATGTTT	0.483000														140			18		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71501559	71501559	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:71501559C>T	uc011caw.1	+	6	763	c.482C>T	c.(481-483)cCa>cTa	p.P161L		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	161					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GCATTCCCACCATTTGGAAAT	0.328000														131			6		0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113657299	113657300	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:113657299_113657300CC>TT	uc001edf.1	+	14	2529_2530	c.2331_2332CC>TT	c.(2329-2334)ggccac>ggTTac	p.H778Y	LRIG2_uc009wgn.1_Missense_Mutation_p.H675Y	NM_014813	NP_055628	O94898	LRIG2_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA.	778	Ig-like C2-type 3.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CAGAACGTGGCCACATTTACCT	0.465000														157			13		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151085946	151085946	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:151085946G>A	uc003eyp.3	+	22	3481	c.3352G>A	c.(3352-3354)Gat>Aat	p.D1118N	MED12L_uc011bnz.2_Missense_Mutation_p.D978N|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.D281N	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1118					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.D1118Y(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCTTGTGGGGATGCGGACGC	0.502000														37			6		0	0	1	0	0
MANSC1	54682	broad.mit.edu	37	12	12483126	12483126	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:12483126G>A	uc001rai.1	-	3	1389	c.1131C>T	c.(1129-1131)taC>taT	p.Y377Y	MANSC1_uc010shm.1_Silent_p.Y311Y|MANSC1_uc001raj.1_Silent_p.Y343Y	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	Homo sapiens MANSC domain containing 1 (MANSC1), mRNA.	377						integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		ATGGAAGGCCGTACTGATTTT	0.512000														108			9		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65252478	65252478	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:65252478C>T	uc001xht.3	-	15	3804	c.3753G>A	c.(3751-3753)ctG>ctA	p.L1251L	SPTB_uc001xhr.3_Silent_p.L1251L|SPTB_uc001xhs.3_Silent_p.L1251L|SPTB_uc001xhu.3_Silent_p.L1251L	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1251					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGTCCTCAATCAGCTGCACCT	0.587000														217			40		0	0	1	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490901	141490901	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:141490901A>C	uc003vwr.1	+	0	885	c.740A>C	c.(739-741)tAt>tCt	p.Y247S		NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN	Homo sapiens taste receptor, type 2, member 5 (TAS2R5), mRNA.	247					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					TCCAAGACTTATCCTCCTGAT	0.502000														212			28		0	0	1	0	0
OR4N3P	390539	broad.mit.edu	37	15	22414299	22414299	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:22414299C>T	uc001yuf.3	+	0	838	c.598C>T	c.(598-600)Cct>Tct	p.P200S	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		AGTGATTCTTCCTTTGTTGAA	0.418000														240			13		0	0	1	0	0
SLC52A3	113278	broad.mit.edu	37	20	744463	744463	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:744463G>A	uc002wed.4	-	2	1091	c.752C>T	c.(751-753)tCc>tTc	p.S251F	SLC52A3_uc002wee.2_Missense_Mutation_p.S251F	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN	Homo sapiens chromosome 20 open reading frame 54 (C20orf54), mRNA.	251					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										GTCTTCCACGGAAGCCTCCCA	0.617000														66			8		0	0	1	0	0
CRADD	8738	broad.mit.edu	37	12	94072788	94072788	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:94072788C>T	uc001tda.3	+	1	342	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S	CRADD_uc010sur.1_Missense_Mutation_p.P80S|CRADD_uc010sus.1_Non-coding_Transcript	NM_003805	NP_003796	P78560	CRADD_HUMAN	Homo sapiens CASP2 and RIPK1 domain containing adaptor with death domain (CRADD), mRNA.	80	CARD.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						ACAGGAGTTTCCCTGGGTCAG	0.517000														91			6		0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56044028	56044028	+	Missense_Mutation	SNP	G	A	A	rs143790336		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:56044028G>A	uc001nio.1	+	0	914	c.914G>A	c.(913-915)cGg>cAg	p.R305Q		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R305P(2)|p.R305W(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TACAGTTTGCGGAACAAAGAT	0.343000														125			9		0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101344500	101344500	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:101344500C>T	uc001pgk.4	-	6	2174	c.1749G>A	c.(1747-1749)agG>agA	p.R583R	TRPC6_uc009ywy.3_Silent_p.R467R|TRPC6_uc009ywz.1_Silent_p.R528R	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	583					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCCACTTTATCCTGGCTAGGA	0.333000														65			10		0	0	1	0	0
SLC29A1	2030	broad.mit.edu	37	6	44198553	44198553	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:44198553C>T	uc003oww.1	+	8	1122	c.930C>T	c.(928-930)ttC>ttT	p.F310F	SLC29A1_uc003owu.1_Silent_p.F231F|SLC29A1_uc003owv.1_Silent_p.F231F|SLC29A1_uc003owx.1_Silent_p.F231F|SLC29A1_uc003owy.1_Silent_p.F231F|SLC29A1_uc003owz.1_Silent_p.F231F	NM_004955	NP_004946	Q99808	S29A1_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 1 (SLC29A1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	231					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	p.A309A(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	GATAGGAATTCTACCGCTACT	0.547000														84			10		0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79374017	79374017	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:79374017C>T	uc021yaw.1	+	16	2423	c.2232C>T	c.(2230-2232)gcC>gcT	p.A744A	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	744	TSP C-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AAGGGGATGCCCAGATCGATC	0.587000														20			3		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196791163	196791163	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:196791163G>A	uc002utj.4	-	21	3700	c.3599C>T	c.(3598-3600)cCa>cTa	p.P1200L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1200	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.P1200S(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TATCCCCATTGGAATAGCTGT	0.328000														57			8		0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142457353	142457353	+	Silent	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:142457353C>T	uc003wak.2	+	0	35	c.18C>T	c.(16-18)atC>atT	p.I6I	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Silent_p.I6I|PRSS1_uc003wam.2_5'Flank	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	6					digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CACTCCTGATCCTTACCTTTG	0.562000														115			15		0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42170571	42170571	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:42170571G>A	uc001zos.3	-	16	3667	c.3334C>T	c.(3334-3336)Ctg>Ttg	p.L1112L		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	1147					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCCTCCAGCAGGTCTTGGTGC	0.642000														35			4		0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236617840	236617840	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:236617840C>T	uc002vvs.3	+	1	779	c.181C>T	c.(181-183)Cag>Tag	p.Q61*	AGAP1_uc002vvt.3_Nonsense_Mutation_p.Q61*|AGAP1_uc021vyp.1_Nonsense_Mutation_p.Q61*	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	61					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CGTGAACAGCCAGGAATGGAC	0.542000														144			6		0	0	1	0	0
OR6A2	8590	broad.mit.edu	37	11	6816142	6816143	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:6816142_6816143CC>TT	uc001mes.1	-	0	997_998	c.797_798GG>AA	c.(796-798)cgg>cAA	p.R266Q		NM_003696	NP_003687	O95222	OR6A2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily A, member 2 (OR6A2), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R266W(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTGCCTTTGGCCGAGCATAGAT	0.470000														117			8		0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5778504	5778504	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:5778504G>A	uc002mda.3	+	21	2275	c.2214G>A	c.(2212-2214)tgG>tgA	p.W738*		NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	738						integral to membrane											GGTCCGTTTGGCTGGCCTACA	0.572000														66			12		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104897577	104897577	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:104897577G>A	uc003yls.3	+	1	325	c.84G>A	c.(82-84)agG>agA	p.R28R	RIMS2_uc003ylp.3_Silent_p.R250R|RIMS2_uc003ylw.2_Silent_p.R58R|RIMS2_uc003ylq.3_Silent_p.R58R|RIMS2_uc003ylr.3_Silent_p.R58R	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	281	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACGACCAAAGGGAAGAAAGAG	0.403000										HNSCC(12;0.0054)				65			18		0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66945962	66945962	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:66945962C>T	uc002eql.3	-	12	1824	c.1630G>A	c.(1630-1632)Ggc>Agc	p.G544S	CDH16_uc010cdy.3_Missense_Mutation_p.G544S|CDH16_uc021tjx.1_Missense_Mutation_p.G544S|CDH16_uc002eqm.3_Missense_Mutation_p.G447S	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	544	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GCTCCAGGGCCTGGGCCTGGC	0.632000														82			14		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14836030	14836030	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:14836030G>A	uc001rcd.3	-	3	694	c.557C>T	c.(556-558)tCc>tTc	p.S186F	GUCY2C_uc009zhz.2_Missense_Mutation_p.S186F	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	186					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						AGTGCTCCAGGAATAAGTTTT	0.393000														69			9		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41424032	41424032	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr21:41424032C>T	uc002yyq.1	-	29	5490	c.5038G>A	c.(5038-5040)Gat>Aat	p.D1680N	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1680					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTGGAGCGATCATCTACAGGA	0.502000														86			10		0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36215302	36215302	+	Silent	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:36215302G>A	uc001bzi.3	-	10	2219	c.2139C>T	c.(2137-2139)ctC>ctT	p.L713L	CLSPN_uc009vux.3_Silent_p.L649L	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	Homo sapiens claspin (CLSPN), transcript variant 1, mRNA.	713					DNA repair|DNA replication|G2/M transition DNA damage checkpoint|activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	DNA binding|anaphase-promoting complex binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGGGAACAGAGAGGAAGCCAA	0.358000														64			9		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537400	55537400	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:55537400G>A	uc003xsd.1	+	3	1106	c.958G>A	c.(958-960)Gag>Aag	p.E320K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	320					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGATGATATTGAGAAATCAAT	0.318000														38			11		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32949216	32949229	+	Frame_Shift_Del	DEL	AGGGAGAGTTTCTT	-	-			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:32949216_32949229delAGGGAGAGTTTCTT	uc001rlj.4	-	11	2418_2431	c.2303_2316delAAGAAACTCTCCCT	c.(2302-2316)aaagaaactctccctfs	p.K768fs	PKP2_uc001rlk.4_Frame_Shift_Del_p.K724fs|PKP2_uc010skj.2_Frame_Shift_Del_p.K721fs	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	768					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AAACCAAATCAGGGAGAGTTTCTTTGGCTACAAA	0.350													---	62	---	---	9	---					
EP400	57634	broad.mit.edu	37	12	132471341	132471341	+	Frame_Shift_Del	DEL	C	-	-			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:132471341delC	uc001ujn.3	+	5	2364	c.2212delC	c.(2212-2214)caafs	p.Q738fs	EP400_uc021rgq.1_Frame_Shift_Del_p.Q737fs|EP400_uc001ujm.3_Frame_Shift_Del_p.Q738fs|EP400_uc001ujj.2_Frame_Shift_Del_p.Q701fs|EP400_uc001ujk.3_Frame_Shift_Del_p.Q774fs	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	774					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GCTGACAGAACAAATAACTCT	0.478													---	161	---	---	16	---					
KIAA0391	9692	broad.mit.edu	37	14	35592700	35592700	+	Frame_Shift_Del	DEL	T	-	-			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:35592700delT	uc001wsy.1	+	1	609	c.249delT	c.(247-249)catfs	p.H83fs	KIAA0391_uc010tps.1_Intron|KIAA0391_uc001wsz.1_Frame_Shift_Del_p.H83fs|KIAA0391_uc001wta.3_Non-coding_Transcript|KIAA0391_uc001wtc.1_Intron|PPP2R3C_uc001wss.3_5'Flank|PPP2R3C_uc001wst.3_5'Flank|PPP2R3C_uc010tpr.2_5'Flank|PPP2R3C_uc001wsu.3_5'Flank|PPP2R3C_uc010amn.1_5'Flank|PPP2R3C_uc001wsw.3_5'Flank|PPP2R3C_uc001wsx.1_5'Flank	NM_014672	NP_055487	O15091	MRRP3_HUMAN	Homo sapiens KIAA0391 (KIAA0391), mRNA.	83					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CTGTTCCTCATTTTTTTTTAG	0.423													---	88	---	---	9	---					
CSRP2BP	57325	broad.mit.edu	37	20	18131569	18131569	+	Frame_Shift_Del	DEL	T	-	-			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:18131569delT	uc021wbb.1	+	2	920	c.483delT	c.(481-483)actfs	p.T161fs	CSRP2BP_uc002wqk.3_Frame_Shift_Del_p.T33fs|CSRP2BP_uc010zru.2_Frame_Shift_Del_p.T33fs	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	161					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						AACATTGGACTTTTTTACTAG	0.343													---	135	---	---	9	---