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
ATXN2L	11273	broad.mit.edu	37	16	28846987	28846987	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:28846987C>T	uc002dqy.3	+	20	2970	c.2803C>T	c.(2803-2805)Cct>Tct	p.P935S	NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Missense_Mutation_p.P935S|ATXN2L_uc002dra.3_Missense_Mutation_p.P935S|ATXN2L_uc002drb.3_Missense_Mutation_p.P935S|ATXN2L_uc002drc.3_Missense_Mutation_p.P935S|ATXN2L_uc010vdb.2_Missense_Mutation_p.P941S|ATXN2L_uc002dre.3_Missense_Mutation_p.P935S|ATXN2L_uc002drf.3_Missense_Mutation_p.P344S|ATXN2L_uc002drg.3_Missense_Mutation_p.P218S	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	935						membrane		p.P935H(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGCCCAGTCCCCTCAGAGCAG	0.647000														49			12		0	0	0.013537	0	0
GPS1	2873	broad.mit.edu	37	17	80010326	80010326	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:80010326G>A	uc002kdk.1	+	0	564	c.144G>A	c.(142-144)ctG>ctA	p.L48L	RFNG_uc002kdh.3_5'Flank|RFNG_uc021ufl.1_5'Flank|RFNG_uc002kdj.3_5'Flank|GPS1_uc002kdl.1_Intron|GPS1_uc010dij.1_Silent_p.L48L|GPS1_uc002kdm.1_5'UTR|GPS1_uc002kdn.1_Intron|GPS1_uc010wvh.1_Intron	NM_212492	NP_997657	Q13098	CSN1_HUMAN	Homo sapiens G protein pathway suppressor 1 (GPS1), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|cullin deneddylation|inactivation of MAPK activity	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CCTGTACGCTGCTCTACGAGG	0.701000														19			4		0	0	0.009096	0	0
LRRC55	219527	broad.mit.edu	37	11	56954940	56954940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:56954940G>A	uc001njl.2	+	1	1159	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	308						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GGCCAGTGAAGAGGAAGAGAT	0.607000														28			12		0	0	0.013537	0	0
KRTAP3-2	83897	broad.mit.edu	37	17	39156090	39156090	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:39156090A>C	uc002hvs.3	-	0	49	c.16T>G	c.(16-18)Tct>Gct	p.S6A		NM_031959	NP_114165	Q9BYR7	KRA32_HUMAN	Homo sapiens keratin associated protein 3-2 (KRTAP3-2), mRNA.	6	3 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity			endometrium(1)|large_intestine(1)|lung(1)	3		Breast(137;0.00043)				CAGCTGCGAGAGGCACAGCAA	0.547000														61			31		0	0	0.003271	0	0
LUZP2	338645	broad.mit.edu	37	11	24753697	24753697	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:24753697G>A	uc001mqs.3	+	2	488	c.214G>A	c.(214-216)Gat>Aat	p.D72N	LUZP2_uc009yif.3_5'UTR|LUZP2_uc009yig.3_Missense_Mutation_p.D72N	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	72						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TGCCAAAACTGATGTTCAGAA	0.338000														18			4		0	0	0.001984	0	0
OR51T1	401665	broad.mit.edu	37	11	4903607	4903607	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:4903607C>T	uc010qyp.2	+	0	559	c.559C>T	c.(559-561)Ccc>Tcc	p.P187S		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTTCTTACTTCCCCTTCTTGT	0.458000														136			26		0	0	0.005443	0	0
TMEM169	92691	broad.mit.edu	37	2	216960723	216960723	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:216960723C>T	uc010zjr.2	+	2	363	c.37C>T	c.(37-39)Ctt>Ttt	p.L13F	TMEM169_uc010zjs.2_Missense_Mutation_p.L13F|TMEM169_uc002vfw.3_Missense_Mutation_p.L13F|TMEM169_uc002vfv.4_Missense_Mutation_p.L13F	NM_001142310	NP_612399	Q96HH4	TM169_HUMAN	Homo sapiens transmembrane protein 169 (TMEM169), transcript variant 1, mRNA.	13						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAGGTCCAGCTTCCAAGCCC	0.527000														40			34		0	0	0.013726	0	0
FAM179A	165186	broad.mit.edu	37	2	29259493	29259493	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:29259493C>T	uc010ezl.3	+	17	2856	c.2505C>T	c.(2503-2505)ccC>ccT	p.P835P	FAM179A_uc010ymm.2_Silent_p.P780P|FAM179A_uc002rmr.4_Silent_p.P362P|FAM179A_uc002rms.1_Silent_p.P133P	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	835							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGATGATCCCCCTCCTCAGAG	0.512000														25			21		0	0	0.010504	0	0
ERBB4	2066	broad.mit.edu	37	2	212537981	212537981	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:212537981C>T	uc002veg.1	-	14	1721	c.1623_splice	c.e14-1	p.G541_splice	ERBB4_uc002veh.1_Splice_Site_p.G541_splice|ERBB4_uc010zji.1_Splice_Site_p.G541_splice|ERBB4_uc010zjj.1_Splice_Site_p.G541_splice|ERBB4_uc010fut.1_Splice_Site_p.G541_splice	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.	541	Cys-rich.				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	p.E542K(1)		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)		TCCCGAAATTCACTGTGAAAA	0.463000										TSP Lung(8;0.080)				42			13		0	0	0.001855	0	0
CACNA1C	775	broad.mit.edu	37	12	2788663	2788663	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:2788663G>A	uc009zdu.1	+	43	5602	c.5289G>A	c.(5287-5289)cgG>cgA	p.R1763R	CACNA1C_uc001qkc.2_Silent_p.R1734R|CACNA1C_uc001qjz.2_Silent_p.R1715R|CACNA1C_uc001qkd.2_Silent_p.R1734R|CACNA1C_uc001qke.2_Silent_p.R1704R|CACNA1C_uc001qkf.2_Silent_p.R1723R|CACNA1C_uc009zdw.1_Silent_p.R1756R|CACNA1C_uc001qkg.2_Silent_p.R1721R|CACNA1C_uc001qkh.2_Silent_p.R1723R|CACNA1C_uc001qkl.2_Silent_p.R1763R|CACNA1C_uc001qkj.2_Silent_p.R1715R|CACNA1C_uc001qkk.2_Silent_p.R1715R|CACNA1C_uc001qkn.2_Silent_p.R1715R|CACNA1C_uc001qkm.2_Silent_p.R1704R|CACNA1C_uc001qko.2_Silent_p.R1735R|CACNA1C_uc001qkp.2_Silent_p.R1715R|CACNA1C_uc001qkq.2_Silent_p.R1743R|CACNA1C_uc001qku.2_Silent_p.R1715R|CACNA1C_uc001qkr.2_Silent_p.R1732R|CACNA1C_uc001qks.2_Silent_p.R1715R|CACNA1C_uc001qkt.2_Silent_p.R1734R|CACNA1C_uc009zdv.1_Silent_p.R1712R|CACNA1C_uc001qkb.2_Silent_p.R1715R|CACNA1C_uc001qki.1_Silent_p.R1451R|CACNA1C_uc010sea.1_Silent_p.R406R|AK093746_uc001qkx.1_Intron|CACNA1C_uc001qky.1_Silent_p.R33R	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1763					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	p.E1763Q(1)		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)	GCGACGGCCGGAGCGCCTTCC	0.652000														11			5		0	0	0.000602	0	0
MXRA5	25878	broad.mit.edu	37	X	3228224	3228224	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:3228224G>A	uc004crg.4	-	6	8177	c.8020C>T	c.(8020-8022)Ccc>Tcc	p.P2674S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2674	Ig-like C2-type 11.					extracellular region		p.P2674H(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATGCCATTGGGGAGCGTCCAG	0.607000														36			18		0	0	0.008871	0	0
CELSR2	1952	broad.mit.edu	37	1	109795343	109795343	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:109795343G>A	uc001dxa.4	+	0	2703	c.2642G>A	c.(2641-2643)cGa>cAa	p.R881Q		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	881	Cadherin 7.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding	p.R881*(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AGGCTGGATCGAGAGAACGTG	0.572000														142			233		0	0	0.014410	0	0
BTN3A2	11118	broad.mit.edu	37	6	26370597	26370597	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:26370597G>A	uc010jqh.2	+	4	740	c.481G>A	c.(481-483)Ggg>Agg	p.G161R	BTN3A2_uc003nhp.3_Missense_Mutation_p.G161R|BTN3A2_uc011dkd.2_Missense_Mutation_p.G119R|BTN3A2_uc011dke.2_Missense_Mutation_p.G138R|BTN3A2_uc010jqi.2_Missense_Mutation_p.G161R	NM_001197247	NP_001184176	P78410	BT3A2_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A2 (BTN3A2), transcript variant 3, mRNA.	161						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						TGAGGATGGAGGGATCCATCT	0.527000														66			28		0	0	0.005443	0	0
FSHR	2492	broad.mit.edu	37	2	49381423	49381423	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:49381423G>T	uc002rww.3	-	0	244	c.134C>A	c.(133-135)cCg>cAg	p.P45Q	FSHR_uc010fbn.3_Missense_Mutation_p.P45Q|FSHR_uc002rwx.3_Missense_Mutation_p.P45Q|FSHR_uc010fbo.2_Non-coding_Transcript	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	45	LRRNT.				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GGCATTCCTCGGGAGGTCAGA	0.473000									Gonadal Dysgenesis, 46 XX					43			9		6.42651e-13	7.13814e-13	0.010729	1	0
CFHR1	3078	broad.mit.edu	37	1	196748941	196748941	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:196748941C>T	uc001gtl.3	+	2	355	c.268C>T	c.(268-270)Cct>Tct	p.P90S	CFH_uc021pgt.1_Intron|CFHR1_uc001gtk.3_Missense_Mutation_p.P90S|CFHR1_uc010poy.2_Missense_Mutation_p.P90S|CFHR1_uc001gtm.3_Intron	NM_021023	NP_066303	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.	90	Sushi 2.				complement activation	extracellular space		p.P90S(1)|p.F89L(1)		NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						ATGTTATTTTCCTTATTTGGA	0.299000														3			9		0	0	0.004482	0	0
LRP1B	53353	broad.mit.edu	37	2	141079576	141079576	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:141079576C>T	uc002tvj.1	-	81	13568	c.12596G>A	c.(12595-12597)gGa>gAa	p.G4199E		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4199					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)		CAAATATTTTCCTTCTGGACA	0.358000										TSP Lung(27;0.18)				31			25		0	0	0.003954	0	0
NLRP8	126205	broad.mit.edu	37	19	56490764	56490764	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:56490764G>A	uc002qmh.3	+	8	2952	c.2881G>A	c.(2881-2883)Gaa>Aaa	p.E961K	NLRP8_uc010etg.3_Missense_Mutation_p.E942K	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	961						cytoplasm	ATP binding	p.E961K(1)		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)		TCACAGGCTGGAAAACTGCCT	0.512000														63			42		0	0	0.011902	0	0
IQGAP3	128239	broad.mit.edu	37	1	156524173	156524173	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:156524173C>T	uc001fpf.3	-	12	1377	c.1302G>A	c.(1300-1302)caG>caA	p.Q434Q	IQGAP3_uc009wsb.1_Silent_p.Q391Q	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	434					small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGAGCTCCTCCTGGCCAAGCT	0.587000														21			13		0	0	0.004990	0	0
ZNF226	7769	broad.mit.edu	37	19	44681340	44681340	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:44681340C>T	uc002oys.3	+	5	2105	c.1925C>T	c.(1924-1926)cCa>cTa	p.P642L	ZNF226_uc002oyp.3_Missense_Mutation_p.P642L|ZNF226_uc002oyq.3_Missense_Mutation_p.P525L|ZNF226_uc002oyr.3_Missense_Mutation_p.P525L|ZNF226_uc002oyt.3_Missense_Mutation_p.P642L	NM_001032372	NP_001027545	Q9NYT6	ZN226_HUMAN	Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA.	642					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				GGAGAAAAACCATTCAAATGT	0.458000														45			29		0	0	0.003271	0	0
C15orf2	23742	broad.mit.edu	37	15	24921998	24921998	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:24921998G>A	uc001ywo.3	+	0	1458	c.984G>A	c.(982-984)agG>agA	p.R328R		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	328	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis			p.R328K(1)		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)		CCTGCAAAAGGAAAATGTCGA	0.587000														38			22		0	0	0.002780	0	0
DOCK3	1795	broad.mit.edu	37	3	51393867	51393867	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:51393867C>T	uc011bds.2	+	42	4469	c.4446C>T	c.(4444-4446)acC>acT	p.T1482T		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1482	DHR-2.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCACACTGACCCTGACCCACA	0.542000														93			29		0	0	0.012213	0	0
SRRM2	23524	broad.mit.edu	37	16	2814308	2814308	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:2814308T>C	uc002crk.3	+	10	4328	c.3779T>C	c.(3778-3780)cTt>cCt	p.L1260P	SRRM2_uc002crj.1_Missense_Mutation_p.L1164P|SRRM2_uc002crl.1_Missense_Mutation_p.L1260P|SRRM2_uc010bsu.1_Missense_Mutation_p.L1164P	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1260	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						TCTTCAGAACTTAAAGAAATG	0.443000														138			40		0	0	0.006230	0	0
ODZ3	55714	broad.mit.edu	37	4	183714840	183714840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:183714840C>T	uc003ivd.1	+	24	7090	c.7015C>T	c.(7015-7017)Cat>Tat	p.H2339Y		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2339					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AATTGGATTTCATGGTGGCCT	0.403000														64			45		0	0	0.014410	0	0
ME1	4199	broad.mit.edu	37	6	84117513	84117513	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:84117513G>A	uc003pjy.3	-	1	451	c.186C>T	c.(184-186)ttC>ttT	p.F62F	ME1_uc011dzb.2_Intron|ME1_uc011dzc.2_Intron	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	62					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TCAGATGCTCGAAATTTTTTA	0.383000														67			44		0	0	0.013114	0	0
OLR1	4973	broad.mit.edu	37	12	10313505	10313505	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:10313505C>T	uc001qxo.1	-	3	558	c.444G>A	c.(442-444)tgG>tgA	p.W148*	OLR1_uc010sgz.1_Intron|OLR1_uc021qvb.1_Nonsense_Mutation_p.W148*|OLR1_uc010sha.1_Intron	NM_002543	NP_002534	P78380	OLR1_HUMAN	Homo sapiens oxidized low density lipoprotein (lectin-like) receptor 1 (OLR1), transcript variant 1, mRNA.	148	Neck.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CATGCCAGATCCAGTCTTGCG	0.423000														66			37		0	0	0.006230	0	0
HTR2C	3358	broad.mit.edu	37	X	114141243	114141243	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:114141243C>T	uc004epu.1	+	5	1370	c.642C>T	c.(640-642)ttC>ttT	p.F214F	HTR2C_uc010nqc.1_Silent_p.F214F|HTR2C_uc004epv.1_Missense_Mutation_p.R183C	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	214					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	ACCCAAATTTCGTTCTTATTG	0.468000														51			115		0	0	0.014410	0	0
POT1	25913	broad.mit.edu	37	7	124481086	124481086	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:124481086T>G	uc003vlm.3	-	13	1911	c.1310A>C	c.(1309-1311)cAt>cCt	p.H437P	POT1_uc011koe.2_Non-coding_Transcript|POT1_uc003vlk.3_Non-coding_Transcript|POT1_uc003vll.3_Non-coding_Transcript|POT1_uc003vln.3_Non-coding_Transcript|POT1_uc003vlo.3_Missense_Mutation_p.H306P	NM_015450	NP_001036059	Q9NUX5	POTE1_HUMAN	Homo sapiens protection of telomeres 1 homolog (S. pombe) (POT1), transcript variant 1, mRNA.	437					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TTTCACAAAATGAACTGCTAC	0.318000														72			31		0	0	0.010818	0	0
MYO5C	55930	broad.mit.edu	37	15	52539675	52539675	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:52539675G>A	uc010bff.3	-	14	2023	c.1861C>T	c.(1861-1863)Cgg>Tgg	p.R621W	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	621	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ACTGTGGTCCGGAAATGCTTG	0.498000														83			58		0	0	0.014410	0	0
CMKLR1	1240	broad.mit.edu	37	12	108685807	108685807	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:108685807C>T	uc009zuw.3	-	2	1124	c.933G>A	c.(931-933)atG>atA	p.M311I	CMKLR1_uc001tmw.3_Missense_Mutation_p.M311I|CMKLR1_uc001tmv.3_Missense_Mutation_p.M309I|CMKLR1_uc009zuv.3_Missense_Mutation_p.M311I|CMKLR1_uc021rdj.1_Missense_Mutation_p.M309I	NM_001142345	NP_004063	Q99788	CML1_HUMAN	Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA.	311					chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GAATGGGGTTCATGCAGCTGT	0.542000														61			12		0	0	0.001855	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74905258	74905258	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:74905258C>T	uc001dge.2	+	21	2333	c.2266C>T	c.(2266-2268)Ctg>Ttg	p.L756L	FPGT-TNNI3K_uc001dgd.3_Silent_p.L756L|FPGT-TNNI3K_uc001dgf.2_Silent_p.L655L	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	655						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										TGCTCTGTGTCTGTGGGAAAT	0.468000														41			25		0	0	0.003954	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41032918	41032918	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:41032918G>A	uc003jmj.4	-	23	2857	c.2367C>T	c.(2365-2367)ttC>ttT	p.F789F	HEATR7B2_uc003jmi.4_Silent_p.F344F	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	789							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CGTCTCTAATGAAGTCCTGAA	0.428000														13			9		0	0	0.004482	0	0
THBS2	7058	broad.mit.edu	37	6	169648776	169648776	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:169648776G>A	uc003qwt.3	-	3	593	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	115	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.I115I(2)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CGTTGGAGACGATCTCGAACT	0.657000														73			28		0	0	0.008361	0	0
GLT8D2	83468	broad.mit.edu	37	12	104408855	104408855	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:104408855G>A	uc001tkh.1	-	3	605	c.48C>T	c.(46-48)atC>atT	p.I16I	GLT8D2_uc001tki.1_Silent_p.I16I	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	Homo sapiens glycosyltransferase 8 domain containing 2 (GLT8D2), mRNA.	16						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						AGAGGGTCACGATCAGAAGGA	0.418000														24			11		0	0	0.013537	0	0
CAMTA2	23125	broad.mit.edu	37	17	4889558	4889558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:4889558G>A	uc010cku.2	-	1	441	c.29C>T	c.(28-30)cCc>cTc	p.P10L	CAMTA2_uc002gag.2_Missense_Mutation_p.P10L|CAMTA2_uc002gah.2_5'UTR|CAMTA2_uc002gai.2_Intron|CAMTA2_uc010vsu.2_Intron	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	475					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CGGCCTGAGGGGCCGGGGGGA	0.592000														4			7		0	0	0.004482	0	0
IGFN1	91156	broad.mit.edu	37	1	201195228	201195228	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:201195228C>T	uc001gwc.3	+	21	10893	c.10763C>T	c.(10762-10764)cCc>cTc	p.P3588L	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACCAGCCAGCCCTGGTGCATC	0.662000														18			10		0	0	0.001855	0	0
SLC7A4	6545	broad.mit.edu	37	22	21384585	21384585	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:21384585G>A	uc002zud.3	-	2	1106	c.1038C>T	c.(1036-1038)gcC>gcT	p.A346A	SLC7A4_uc002zue.3_Silent_p.A346A	NM_004173	NP_004164	O43246	CTR4_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 4 (SLC7A4), mRNA.	346					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CGGCGGCCATGGCATAGACAA	0.642000														56			7		0	0	0.003080	0	0
ENPP6	133121	broad.mit.edu	37	4	185039019	185039019	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:185039019C>T	uc003iwc.3	-	3	710	c.568G>A	c.(568-570)Gag>Aag	p.E190K		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	190					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TCAATGCGCTCATGGTATATG	0.607000														42			27		0	0	0.003954	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138808	126138808	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:126138808G>A	uc001uhe.1	+	8	2797	c.2789G>A	c.(2788-2790)aGg>aAg	p.R930K	TMEM132B_uc001uhf.1_Missense_Mutation_p.R442K	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	930						integral to membrane		p.R930M(2)|p.R930T(2)		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)		AGACACAAAAGGTTTGCTGTG	0.502000														80			49		0	0	0.014410	0	0
NRG2	9542	broad.mit.edu	37	5	139251314	139251314	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:139251314G>A	uc003lev.2	-	3	1334	c.1104C>T	c.(1102-1104)ctC>ctT	p.L368L	NRG2_uc003lew.2_Silent_p.L368L|NRG2_uc003lex.2_Silent_p.L368L|NRG2_uc003ley.2_Silent_p.L368L|NRG2_uc021yed.1_Intron	NM_013982	NP_053585	O14511	NRG2_HUMAN	Homo sapiens neuregulin 2 (NRG2), transcript variant 3, mRNA.	368	EGF-like.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTGCAGGAGAGCTGGTTGA	0.567000														66			24		0	0	0.003954	0	0
KRT33B	3884	broad.mit.edu	37	17	39522799	39522799	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:39522799G>A	uc002hwl.3	-	2	556	c.511C>T	c.(511-513)Ctg>Ttg	p.L171L		NM_002279	NP_002270	Q14525	KT33B_HUMAN	Homo sapiens keratin 33B (KRT33B), mRNA.	171	Coil 1B.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GACCTGCACAGGGTCAGCTCA	0.602000														52			38		0	0	0.006230	0	0
FMO3	2328	broad.mit.edu	37	1	171086461	171086461	+	Missense_Mutation	SNP	C	T	T	rs61008738	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:171086461C>T	uc001ghi.3	+	8	1589	c.1478C>T	c.(1477-1479)tCg>tTg	p.S493L	FMO3_uc001ghh.3_Missense_Mutation_p.S493L|FMO3_uc010pmb.2_Missense_Mutation_p.S473L|FMO3_uc010pmc.2_Missense_Mutation_p.S430L	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	493					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.S493*(2)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGGACCGGTCGTTGAAACCC	0.517000														40			24		0	0	0.002780	0	0
SERPINA13	388007	broad.mit.edu	37	14	95108138	95108138	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:95108138G>A	uc001ydt.3	+	1	743	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K						Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene) (SERPINA13), non-coding RNA.											endometrium(1)|large_intestine(1)|lung(9)|skin(1)	12						ACACATTGACGAATATACAGA	0.622000														126			54		0	0	0.014410	0	0
CDK12	51755	broad.mit.edu	37	17	37681031	37681031	+	Missense_Mutation	SNP	G	A	A	rs143648695		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:37681031G>A	uc010cvv.3	+	11	3786	c.3200G>A	c.(3199-3201)cGa>cAa	p.R1067Q	CDK12_uc010wef.1_Missense_Mutation_p.R1066Q|CDK12_uc002hrw.4_Missense_Mutation_p.R1067Q	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	1067					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AAAACTTCTCGAAAAGAAACT	0.552000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)				82			52		0	0	0.014410	0	0
PDE6C	5146	broad.mit.edu	37	10	95400746	95400746	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:95400746G>A	uc001kiu.4	+	13	1945	c.1807G>A	c.(1807-1809)Gat>Aat	p.D603N		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	603					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TTTCTGCCATGATATTGACCA	0.383000														27			22		0	0	0.006320	0	0
LCT	3938	broad.mit.edu	37	2	136567040	136567040	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:136567040C>T	uc002tuu.1	-	7	2888	c.2877G>A	c.(2875-2877)ctG>ctA	p.L959L		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	959	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GATCGGCATCCAGCTGGTGAT	0.517000														67			25		0	0	0.005443	0	0
NEO1	4756	broad.mit.edu	37	15	73590734	73590734	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:73590734C>T	uc002avm.4	+	26	4139	c.3947C>T	c.(3946-3948)tCg>tTg	p.S1316L	NEO1_uc010ukx.2_Missense_Mutation_p.S1305L|NEO1_uc010uky.2_Missense_Mutation_p.S1263L|NEO1_uc002avn.4_Missense_Mutation_p.S1309L|NEO1_uc010ukz.2_Missense_Mutation_p.S729L	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	1316					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CCAGCCTCTTCGTCTCAAACA	0.493000														43			25		0	0	0.003954	0	0
FBXL16	146330	broad.mit.edu	37	16	746788	746788	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:746788C>T	uc021taa.1	-	1	946	c.618G>A	c.(616-618)acG>acA	p.T206T	FBXL16_uc002cja.3_5'Flank|FBXL16_uc002cjb.3_5'Flank	NM_153350	NP_699181	Q8N461	FXL16_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 16 (FBXL16), mRNA.	206										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GGCCTGCGTCCGTGATGGTGG	0.632000														22			11		0	0	0.010729	0	0
PAIP1	10605	broad.mit.edu	37	5	43529903	43529903	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:43529903G>A	uc003job.3	-	9	1578	c.1331C>T	c.(1330-1332)tCc>tTc	p.S444F	PAIP1_uc003joa.3_Missense_Mutation_p.S365F|PAIP1_uc003joc.3_Missense_Mutation_p.S332F	NM_006451	NP_899152	Q9H074	PAIP1_HUMAN	Homo sapiens poly(A) binding protein interacting protein 1 (PAIP1), transcript variant 1, mRNA.	444	PABPC1-interacting motif-1 (PAM1).				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	RNA binding|protein binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					ACCAGCCCCGGATAAATCTGT	0.353000														61			31		0	0	0.003271	0	0
CEP250	11190	broad.mit.edu	37	20	34091199	34091199	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:34091199C>T	uc021wco.1	+	29	5649	c.5002C>T	c.(5002-5004)Cag>Tag	p.Q1668*	CEP250_uc010zve.2_Nonsense_Mutation_p.Q1036*	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	1668	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGAGAGGATTCAGGTTCTCGA	0.572000														114			72		0	0	0.014410	0	0
DNAH11	8701	broad.mit.edu	37	7	21847502	21847502	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:21847502G>A	uc003svc.3	+	64	10218	c.10187_splice	c.e64-1	p.K3396_splice		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3396	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTCAGTCAGAGAAGATTCGCT	0.443000									Kartagener syndrome					24			9		0	0	0.008291	0	0
OR51L1	119682	broad.mit.edu	37	11	5020453	5020453	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:5020453C>T	uc010qyu.2	+	0	241	c.241C>T	c.(241-243)Ccc>Tcc	p.P81S		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCTACACTTCCCACCATGCT	0.473000														99			25		0	0	0.003330	0	0
SLC9A2	6549	broad.mit.edu	37	2	103318941	103318941	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:103318941C>T	uc002tca.3	+	8	1967	c.1825C>T	c.(1825-1827)Ctc>Ttc	p.L609F		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	609						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ATCAAGAAATCTCTATCAAAT	0.358000														46			27		0	0	0.007291	0	0
NPR2	4882	broad.mit.edu	37	9	35792846	35792846	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:35792846C>T	uc003zyd.3	+	0	441	c.441C>T	c.(439-441)ccC>ccT	p.P147P	NPR2_uc010mlb.3_Silent_p.P147P	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	147					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CCTCTGCTCCCAAGCTGGGTG	0.587000														19			44		0	0	0.011902	0	0
MILR1	284021	broad.mit.edu	37	17	62461626	62461626	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:62461626G>A	uc010wpz.2	+	0	58	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	MILR1_uc021ubp.1_Missense_Mutation_p.E14K			Q7Z6M3	MILR1_HUMAN	Homo sapiens mast cell immunoglobulin-like receptor 1 (MILR1), mRNA.	0						integral to membrane|plasma membrane											ATGGAAGTTGGAATCTATGCA	0.378000														16			7		0	0	0.003080	0	0
SPHKAP	80309	broad.mit.edu	37	2	228886515	228886515	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:228886515C>T	uc002vpq.2	-	5	656	c.609G>A	c.(607-609)acG>acA	p.T203T	SPHKAP_uc002vpp.2_Silent_p.T203T|SPHKAP_uc010zlx.1_Silent_p.T203T	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	203						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)		AGGAACAGTTCGTGTCATCCT	0.463000														38			24		0	0	0.003330	0	0
OR2T4	127074	broad.mit.edu	37	1	248524930	248524930	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:248524930C>T	uc001ieh.1	+	0	48	c.48C>T	c.(46-48)ttC>ttT	p.F16F		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F16I(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGTCGGATTTCATCCTGATGG	0.493000														45			20		0	0	0.002780	0	0
FAM135B	51059	broad.mit.edu	37	8	139164194	139164194	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:139164194G>A	uc003yuy.3	-	12	2695	c.2524C>T	c.(2524-2526)Ccc>Tcc	p.P842S	FAM135B_uc003yux.3_Missense_Mutation_p.P743S|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.P404S|FAM135B_uc003yvb.3_Missense_Mutation_p.P404S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	842										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)			ATGTATCCGGGGCCCTGCTGG	0.517000										HNSCC(54;0.14)				77			32		0	0	0.012213	0	0
ZNF676	163223	broad.mit.edu	37	19	22363612	22363612	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:22363612G>A	uc002nqs.1	-	2	1225	c.907C>T	c.(907-909)Cat>Tat	p.H303Y		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTCCAGTATGAATTCTCTTA	0.438000														53			27		0	0	0.010818	0	0
LPIN1	23175	broad.mit.edu	37	2	11911506	11911506	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:11911506C>T	uc010yjm.2	+	4	497	c.444C>T	c.(442-444)atC>atT	p.I148I	LPIN1_uc010yjn.2_Silent_p.I99I|LPIN1_uc002rbt.3_Silent_p.I99I|LPIN1_uc002rbs.3_Silent_p.I99I	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	99	Poly-Ser.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		AGGAAGTTATCCCTATGCACC	0.507000														53			7		0	0	0.003080	0	0
PRG3	10394	broad.mit.edu	37	11	57147044	57147044	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:57147044C>T	uc001njv.2	-	2	408	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K		NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN	Homo sapiens proteoglycan 3 (PRG3), mRNA.	100					basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						CCCTGCACTTCAACAATGTCT	0.517000														104			32		0	0	0.008361	0	0
LRFN5	145581	broad.mit.edu	37	14	42356771	42356771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:42356771G>A	uc001wvm.3	+	2	2141	c.943G>A	c.(943-945)Gag>Aag	p.E315K	LRFN5_uc010ana.3_Missense_Mutation_p.E315K	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	315	Ig-like.					integral to membrane				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)		GGGAGACCCTGAGCCTGCAAT	0.463000										HNSCC(30;0.082)				50			32		0	0	0.010818	0	0
OGFR	11054	broad.mit.edu	37	20	61443801	61443801	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:61443801C>T	uc002ydj.3	+	6	869	c.834C>T	c.(832-834)ttC>ttT	p.F278F	OGFR_uc002ydk.3_Silent_p.F261F|OGFR_uc002ydl.3_Silent_p.F226F	NM_007346	NP_031372	Q9NZT2	OGFR_HUMAN	Homo sapiens opioid growth factor receptor (OGFR), mRNA.	278					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GGGAGCACTTCCGGCCCCGCT	0.682000														4			4		0	0	0.009096	0	0
CYLC2	1539	broad.mit.edu	37	9	105763885	105763885	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:105763885G>A	uc004bbs.2	+	1	113	c.43G>A	c.(43-45)Gat>Aat	p.D15N		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	15					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TGGGCCATATGATAATTACAT	0.264000														5			9		0	0	0.010729	0	0
RBM12	10137	broad.mit.edu	37	20	34242055	34242055	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:34242055G>A	uc021wcr.1	-	0	1190	c.1190C>T	c.(1189-1191)cCt>cTt	p.P397L	CPNE1_uc010zvj.2_5'Flank|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_Missense_Mutation_p.P397L|RBM12_uc002xds.3_Missense_Mutation_p.P397L|RBM12_uc002xdr.3_Missense_Mutation_p.P397L|RBM12_uc021wcq.1_Missense_Mutation_p.P397L	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.	397						nucleus	RNA binding|nucleotide binding|protein binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TTGTCCAGAAGGTCCCATATT	0.483000											OREG0004044	type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		85			45		0	0	0.009718	0	0
MUC7	4589	broad.mit.edu	37	4	71346720	71346720	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:71346720C>T	uc011cat.2	+	3	547	c.259C>T	c.(259-261)Cct>Tct	p.P87S	MUC7_uc011cau.2_Missense_Mutation_p.P87S|MUC7_uc003hfj.3_Missense_Mutation_p.P87S	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	87						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ATTCCCAAATCCTCACCAGCC	0.458000														48			35		0	0	0.012213	0	0
TTC16	158248	broad.mit.edu	37	9	130486511	130486511	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:130486511C>T	uc004brq.1	+	7	1052	c.985C>T	c.(985-987)Cag>Tag	p.Q329*	PTRH1_uc011mah.2_Intron|TTC16_uc011mai.1_Nonsense_Mutation_p.Q316*|TTC16_uc004brr.1_Nonsense_Mutation_p.Q274*|TTC16_uc010mxn.1_5'UTR	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	329							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GGCACAGCGCCAGCTGTTGCT	0.642000														18			23		0	0	0.004656	0	0
OVCA2	124641	broad.mit.edu	37	17	1945386	1945386	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:1945386C>T	uc002ftx.3	+	0	110	c.45C>T	c.(43-45)ttC>ttT	p.F15F	DPH1_uc002fts.3_Intron|DPH1_uc002ftt.3_Intron|DPH1_uc010cjx.3_Intron|DPH1_uc010vqs.2_Intron|DPH1_uc002ftv.3_Intron|DPH1_uc002ftw.3_3'UTR	NM_080822	NP_543012	Q8WZ82	OVCA2_HUMAN	Homo sapiens ovarian tumor suppressor candidate 2 (OVCA2), mRNA.	15					response to retinoic acid	cytoplasm	hydrolase activity										TGGCGGGCTTCCGGCAGAGCG	0.731000											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		4			6		0	0	0.001984	0	0
GPR98	84059	broad.mit.edu	37	5	90055394	90055394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:90055394G>A	uc003kju.3	+	57	12205	c.12109G>A	c.(12109-12111)Gaa>Aaa	p.E4037K	GPR98_uc003kjt.3_Missense_Mutation_p.E1743K|GPR98_uc003kjv.3_Missense_Mutation_p.E1637K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4037					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)		ATTTGGATTTGAAGAAAAGAC	0.378000														24			7		0	0	0.004482	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508796	37508796	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:37508796C>T	uc021ppc.1	+	33	4087	c.3988C>T	c.(3988-3990)Caa>Taa	p.Q1330*	ANKRD30A_uc001iza.1_Nonsense_Mutation_p.Q1330*	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1386						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						CCGTATATATCAATATGAAAA	0.279000														3			4		0	0	0.009096	0	0
SLC35B4	84912	broad.mit.edu	37	7	133981213	133981213	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:133981213A>G	uc003vrn.3	-	8	1003	c.679T>C	c.(679-681)Tat>Cat	p.Y227H	SLC35B4_uc010lmk.3_Missense_Mutation_p.Y91H	NM_032826	NP_116215	Q969S0	S35B4_HUMAN	Homo sapiens solute carrier family 35, member B4 (SLC35B4), mRNA.	227						Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						GGAATTTCATATAACTCTGTA	0.413000														46			5		0	0	0.000602	0	0
CAST	831	broad.mit.edu	37	5	96078387	96078387	+	Missense_Mutation	SNP	C	T	T	rs138552693		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:96078387C>T	uc011cuo.1	+	14	1100	c.1016C>T	c.(1015-1017)gCt>gTt	p.A339V	CAST_uc003klt.3_Missense_Mutation_p.A280V|CAST_uc021ybr.1_Missense_Mutation_p.A341V|CAST_uc003klx.3_Missense_Mutation_p.A335V|CAST_uc003klz.1_Missense_Mutation_p.A293V|CAST_uc011cuq.2_Missense_Mutation_p.A141V|CAST_uc021ybs.1_Missense_Mutation_p.A293V|CAST_uc021ybt.1_Missense_Mutation_p.A258V|CAST_uc011cut.2_Missense_Mutation_p.A221V|CAST_uc011cur.2_Missense_Mutation_p.A279V|CAST_uc011cus.2_Missense_Mutation_p.A280V|CAST_uc003kma.2_Missense_Mutation_p.A252V|CAST_uc003kmd.3_Missense_Mutation_p.A271V|CAST_uc010jbj.3_Missense_Mutation_p.A8V|CAST_uc003kmh.3_Missense_Mutation_p.A8V|CAST_uc010jbk.2_Missense_Mutation_p.A8V|CAST_uc003kmi.3_5'Flank|CAST_uc010jbl.2_5'Flank	NM_173060	NP_775083	P20810	ICAL_HUMAN	Homo sapiens calpastatin (CAST), transcript variant 2, mRNA.	293							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		GCACTCGAGGCTCTGTCGGCT	0.453000														29			8		0	0	0.004482	0	0
ZNF831	128611	broad.mit.edu	37	20	57782063	57782063	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:57782063G>A	uc002yan.3	+	2	3979	c.3979G>A	c.(3979-3981)Gga>Aga	p.G1327R		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1327						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGCACTTGAGGGACTGAAGCC	0.572000														67			35		0	0	0.003755	0	0
PROX2	283571	broad.mit.edu	37	14	75330247	75330247	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:75330247C>T	uc021rwo.1	-	0	291	c.291G>A	c.(289-291)aaG>aaA	p.K97K	PROX2_uc001xqp.2_Silent_p.K97K|PROX2_uc001xqq.2_Silent_p.K97K	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	97					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		CTCGGGCCTTCTTTGGGCAGC	0.642000														17			8		0	0	0.003080	0	0
TNR	7143	broad.mit.edu	37	1	175355418	175355418	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:175355418C>T	uc001gkp.1	-	5	1608	c.1527G>A	c.(1525-1527)caG>caA	p.Q509Q	TNR_uc009wwu.1_Silent_p.Q509Q	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	509	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.Q509E(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GAACCAGGATCTGCGTGGGGC	0.483000														18			8		0	0	0.008291	0	0
FAM19A2	338811	broad.mit.edu	37	12	62261121	62261121	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:62261121G>T	uc001sqw.3	-	1	1668	c.86C>A	c.(85-87)tCc>tAc	p.S29Y	FAM19A2_uc001sqx.3_Missense_Mutation_p.S29Y|FAM19A2_uc001sqy.3_Non-coding_Transcript	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 (FAM19A2), mRNA.	29						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		GTTTGCACTGGATACAACTTT	0.333000														52			28		4.31634e-10	4.78394e-10	0.012213	1	0
WDR7	23335	broad.mit.edu	37	18	54339790	54339790	+	Missense_Mutation	SNP	G	A	A	rs143281590		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:54339790G>A	uc002lgk.1	+	1	255	c.44G>A	c.(43-45)cGa>cAa	p.R15Q	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Missense_Mutation_p.R15Q	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	15										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CTTTGGGGTCGAAAAGCGCCC	0.413000														21			21		0	0	0.005443	0	0
TIMM44	10469	broad.mit.edu	37	19	7998441	7998441	+	Missense_Mutation	SNP	A	C	C	rs41539862		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:7998441A>C	uc002miz.3	-	6	870	c.698T>G	c.(697-699)gTc>gGc	p.V233G	TIMM44_uc010dvx.2_Non-coding_Transcript	NM_006351	NP_006342	O43615	TIM44_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast) (TIMM44), nuclear gene encoding mitochondrial protein, mRNA.	233					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						GTGCAGCACGACCCCCAGGGC	0.652000														146			59		0	0	0.014410	0	0
PTPRB	5787	broad.mit.edu	37	12	70956662	70956662	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:70956662C>T	uc001swb.4	-	13	3506	c.3476G>A	c.(3475-3477)gGg>gAg	p.G1159E	PTPRB_uc010sto.2_Missense_Mutation_p.G1069E|PTPRB_uc010stp.2_Missense_Mutation_p.G1069E|PTPRB_uc001swc.4_Missense_Mutation_p.G1377E|PTPRB_uc001swa.4_Missense_Mutation_p.G1289E|PTPRB_uc001swd.4_Missense_Mutation_p.G1376E|PTPRB_uc009zrr.2_Missense_Mutation_p.G1256E	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1159	Fibronectin type-III 13.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGACAGCTCCCCACTGTGAGT	0.463000														60			28		0	0	0.007291	0	0
TNN	63923	broad.mit.edu	37	1	175046721	175046721	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:175046721T>C	uc001gkl.1	+	1	280	c.167T>C	c.(166-168)gTt>gCt	p.V56A	TNN_uc010pmx.1_Missense_Mutation_p.V56A	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	56					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TCTGCCTTGGTTCAGGTTGAC	0.607000														21			13		0	0	0.001855	0	0
SEL1L3	23231	broad.mit.edu	37	4	25803907	25803907	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:25803907G>A	uc003gru.4	-	10	2106	c.1954C>T	c.(1954-1956)Cag>Tag	p.Q652*	SEL1L3_uc003grv.3_Nonsense_Mutation_p.Q59*	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	652						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TCTCATACCTGATCTCCTTGC	0.498000														31			16		0	0	0.004007	0	0
RGPD4	285190	broad.mit.edu	37	2	108487252	108487252	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:108487252G>A	uc010ywk.2	+	19	2874	c.2792G>A	c.(2791-2793)gGa>gAa	p.G931E	RGPD4_uc002tdu.3_Missense_Mutation_p.G118E|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	931					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCGGAACCAGGAAATCAAGAA	0.408000														142			113		0	0	0.014410	0	0
DSG3	1830	broad.mit.edu	37	18	29049078	29049078	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:29049078G>A	uc002kws.3	+	11	1772	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	555					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGAGCCCAGGAACAGATACC	0.473000														98			34		0	0	0.003755	0	0
CPNE4	131034	broad.mit.edu	37	3	131418796	131418796	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:131418796G>A	uc011blq.2	-	3	553	c.443C>T	c.(442-444)tCc>tTc	p.S148F	CPNE4_uc003eok.3_Missense_Mutation_p.S130F|CPNE4_uc003eol.3_Missense_Mutation_p.S148F|CPNE4_uc003eom.3_Missense_Mutation_p.S130F	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	130	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CTTCAGCAAGGATTTGGACAG	0.448000														12			10		0	0	0.008291	0	0
USP26	83844	broad.mit.edu	37	X	132161263	132161263	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:132161263G>A	uc011mvf.2	-	0	1038	c.986C>T	c.(985-987)cCa>cTa	p.P329L	USP26_uc010nrm.1_Missense_Mutation_p.P329L	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	329					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TTTACCCCATGGGAAACTCTG	0.388000														13			24		0	0	0.002780	0	0
ZNF780B	163131	broad.mit.edu	37	19	40541451	40541451	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:40541451G>A	uc002omu.3	-	4	1380	c.1315C>T	c.(1315-1317)Cat>Tat	p.H439Y	ZNF780B_uc002omv.3_Missense_Mutation_p.H291Y	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	Homo sapiens zinc finger protein 780B (ZNF780B), mRNA.	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCATTGGAATGAATTTTTTGA	0.378000														86			54		0	0	0.014410	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2027550	2027550	+	Silent	SNP	G	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:2027550G>T	uc021qsx.1	-	0	321	c.90C>A	c.(88-90)tcC>tcA	p.S30S	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Silent_p.S30S	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	30						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AGCGGCTGCTGGAGCTGGGGT	0.642000														12			6		0.00198382	0.00217989	0.001984	1	0
ANKMY1	51281	broad.mit.edu	37	2	241465154	241465154	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:241465154G>A	uc010fzd.1	-	6	1408	c.1283C>T	c.(1282-1284)cCc>cTc	p.P428L	ANKMY1_uc002vzb.1_Missense_Mutation_p.P198L|ANKMY1_uc002vzc.1_Missense_Mutation_p.P198L|ANKMY1_uc002vyz.1_Missense_Mutation_p.P339L|ANKMY1_uc002vza.1_Missense_Mutation_p.P198L|ANKMY1_uc002vzd.1_Missense_Mutation_p.P198L|ANKMY1_uc010fze.2_Missense_Mutation_p.P8L|ANKMY1_uc002vze.3_Missense_Mutation_p.P100L	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	339							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGACTGGGCGGGGTAGTGGAG	0.577000														39			11		0	0	0.010729	0	0
KDR	3791	broad.mit.edu	37	4	55981484	55981484	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:55981484G>A	uc003has.3	-	3	755	c.453C>T	c.(451-453)ctC>ctT	p.L151L	KDR_uc003hat.1_Silent_p.L151L|KDR_uc011bzx.2_Silent_p.L151L	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	151	Ig-like C2-type 2.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.L151R(3)|p.L151L(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AAATGGACCCGAGACATGGAA	0.368000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				28			13		0	0	0.002450	0	0
OR4C16	219428	broad.mit.edu	37	11	55340347	55340347	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:55340347C>T	uc010rih.2	+	0	744	c.744C>T	c.(742-744)ttC>ttT	p.F248F		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TCATCTTGTTCTTTGGACCTT	0.403000														28			31		0	0	0.012213	0	0
C12orf40	283461	broad.mit.edu	37	12	40078685	40078685	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:40078685G>A	uc001rmc.3	+	9	1470	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	435								p.S434L(1)		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						TATACCTTCGGAAGAATTGCA	0.368000														30			14		0	0	0.003163	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52991400	52991400	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:52991400G>A	uc001cty.2	-	1	806	c.553C>T	c.(553-555)Cca>Tca	p.P185S	ZCCHC11_uc001ctx.2_Missense_Mutation_p.P185S|ZCCHC11_uc009vze.1_Missense_Mutation_p.P185S|ZCCHC11_uc009vzf.1_Intron|ZCCHC11_uc001cub.3_Missense_Mutation_p.P185S|ZCCHC11_uc001cuc.2_Non-coding_Transcript|ZCCHC11_uc001cud.3_Missense_Mutation_p.P185S	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	185					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AAGGAGCTTGGAATTTTTTTT	0.408000														151			95		0	0	0.014410	0	0
MC2R	4158	broad.mit.edu	37	18	13885413	13885413	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:13885413G>A	uc002ksp.1	-	1	282	c.105C>T	c.(103-105)tcC>tcT	p.S35S	MC2R_uc021uhs.1_Silent_p.S35S	NM_000529	NP_000520	Q01718	ACTHR_HUMAN	Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	35					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CTCCAACAATGGAAATTGTGA	0.413000														30			12		0	0	0.013537	0	0
DNAJB3	414061	broad.mit.edu	37	2	234652226	234652226	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:234652226C>T	uc002vuz.3	-	0	436	c.337G>A	c.(337-339)Gac>Aac	p.D113N	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA.	113					protein folding		heat shock protein binding|unfolded protein binding										CCCAAGAGGTCAAAGGAGAAT	0.597000														49			17		0	0	0.004990	0	0
DUS1L	64118	broad.mit.edu	37	17	80019527	80019527	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:80019527G>A	uc002kdq.3	-	5	1083	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	DUS1L_uc002kdp.3_Missense_Mutation_p.R91W|DUS1L_uc002kdr.3_Missense_Mutation_p.R222W|DUS1L_uc010wvi.1_Missense_Mutation_p.R205W	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	Homo sapiens dihydrouridine synthase 1-like (S. cerevisiae) (DUS1L), mRNA.	222					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CCCGTGTCCCGGAGGCAGCGC	0.652000														26			19		0	0	0.014323	0	0
ATG4B	23192	broad.mit.edu	37	2	242590434	242590435	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:242590434_242590435CC>TT	uc002wbv.3	+	1	123_124	c.20_21CC>TT	c.(19-21)acc>aTT	p.T7I	ATG4B_uc002wbu.3_5'UTR|ATG4B_uc002wbw.3_Missense_Mutation_p.T7I|ATG4B_uc010zox.2_5'UTR|ATG4B_uc010zoy.2_5'UTR|ATG4B_uc010fzp.3_Missense_Mutation_p.T7I|ATG4B_uc010zoz.2_5'Flank	NM_013325	NP_037457	Q9Y4P1	ATG4B_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog B (S. cerevisiae) (ATG4B), transcript variant 1, mRNA.	7					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding	p.T7T(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		GCTACTCTGACCTACGACACTC	0.426000														7			3		0	0	0.004672	0	0
CRB2	286204	broad.mit.edu	37	9	126132723	126132723	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:126132723G>A	uc004bnx.1	+	6	1483	c.1391G>A	c.(1390-1392)aGg>aAg	p.R464K	CRB2_uc004bnw.1_Missense_Mutation_p.R464K	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	464	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTGGCACTGAGGTTTCGCACC	0.607000														14			9		0	0	0.004482	0	0
MICALL2	79778	broad.mit.edu	37	7	1484874	1484874	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:1484874C>T	uc003skj.4	-	5	979	c.832G>A	c.(832-834)Gag>Aag	p.E278K	MICALL2_uc003ski.4_5'Flank	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	278						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TTGTTTGCCTCCTGGGCCTTC	0.677000														18			7		0	0	0.003080	0	0
DDX60	55601	broad.mit.edu	37	4	169176899	169176899	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:169176899G>A	uc003irp.3	-	25	3812	c.3520C>T	c.(3520-3522)Cga>Tga	p.R1174*		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1174							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTAACTTTTCGAAGTTTGTTA	0.373000														38			10		0	0	0.010729	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916831	42916831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:42916831C>T	uc003cmh.3	-	0	803	c.478G>A	c.(478-480)Gat>Aat	p.D160N	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	160					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CAACTGGCATCCAGACTCCAG	0.522000														46			31		0	0	0.008361	0	0
TDRD10	126668	broad.mit.edu	37	1	154517326	154517326	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:154517326G>A	uc009wow.3	+	10	1691	c.853G>A	c.(853-855)Gga>Aga	p.G285R	TDRD10_uc001ffd.3_Missense_Mutation_p.G285R|TDRD10_uc001ffe.3_Missense_Mutation_p.G206R	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	285	Tudor.						RNA binding|nucleotide binding	p.G285*(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CATTGATTTTGGACAGTTGGC	0.552000														45			18		0	0	0.007413	0	0
CLEC18B	497190	broad.mit.edu	37	16	74447545	74447545	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:74447545G>A	uc002fct.3	-	3	686	c.486C>T	c.(484-486)ggC>ggT	p.G162G	CLEC18B_uc002fcu.3_Silent_p.G162G|CLEC18B_uc010vmu.1_Silent_p.G82G|CLEC18B_uc010vmw.1_Silent_p.G162G|CLEC18B_uc010vmv.1_5'Flank	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	Homo sapiens C-type lectin domain family 18, member B (CLEC18B), mRNA.	162	SCP.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCCGCCCACAGCCCAGCTGGC	0.607000														98			16		0	0	0.007413	0	0
ZNF716	441234	broad.mit.edu	37	7	57522258	57522258	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:57522258G>A	uc011kdi.1	+	1	244	c.132G>A	c.(130-132)gtG>gtA	p.V44V		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						ATAGAGATGTGATGTTAGAGA	0.388000														47			18		0	0	0.012319	0	0
MYOF	26509	broad.mit.edu	37	10	95191274	95191274	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:95191274C>T	uc001kin.3	-	4	360	c.237_splice	c.e4-1	p.K79_splice	MYOF_uc001kio.3_Splice_Site_p.K79_splice|MYOF_uc001kip.4_Splice_Site_p.K79_splice|MYOF_uc009xuf.2_Splice_Site_p.K61_splice	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	79	C2 1.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCCAATTAATCTGCAGGGAAA	0.493000														25			10		0	0	0.008291	0	0
THEMIS	387357	broad.mit.edu	37	6	128150657	128150657	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:128150657G>A	uc011ebt.2	-	2	822	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F	THEMIS_uc010kfa.3_Missense_Mutation_p.L128F|THEMIS_uc021zfa.1_Missense_Mutation_p.L225F|THEMIS_uc010kfb.3_Missense_Mutation_p.L190F	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	225	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ACAGGCTTGAGAATCAGGGTA	0.368000														53			23		0	0	0.003954	0	0
FOXD4L1	200350	broad.mit.edu	37	2	114257251	114257251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:114257251C>T	uc002tjw.4	+	0	591	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	Homo sapiens forkhead box D4-like 1 (FOXD4L1), mRNA.	140					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CATTAGTGGCCGCTTCCCCTA	0.632000														217			52		0	0	0.014410	0	0
MYO18B	84700	broad.mit.edu	37	22	26173717	26173717	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:26173717G>A	uc003abz.1	+	7	2287	c.2037G>A	c.(2035-2037)ggG>ggA	p.G679G	MYO18B_uc003aca.1_Silent_p.G560G|MYO18B_uc010guy.1_Silent_p.G560G|MYO18B_uc010guz.1_Silent_p.G560G|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Silent_p.G192G	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	679	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACCTGGTGGGGATGGCAGGCA	0.622000														69			38		0	0	0.006230	0	0
GSTT1	2952	broad.mit.edu	37	22	24376534	24376534	+	Silent	SNP	C	T	T	rs76323459		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:24376534C>T	uc002zze.4	-	4	665	c.612G>A	c.(610-612)gaG>gaA	p.E204E	GSTT1_uc010gug.3_Non-coding_Transcript|GSTT1_uc011ajl.2_Silent_p.E86E|GSTT1_uc010guh.3_Non-coding_Transcript	NM_000853	NP_000844	P30711	GSTT1_HUMAN	Homo sapiens glutathione S-transferase theta 1 (GSTT1), mRNA.	204	GST C-terminal.				glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Glutathione(DB00143)	GGAAGAGGTCCTCCCCCACTG	0.632000									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial					49			23		0	0	0.003330	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738778	176738778	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:176738778G>C	uc001gkz.3	+	15	5523	c.4359G>C	c.(4357-4359)tgG>tgC	p.W1453C	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1453	Sushi 1.				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						CTGGGCACTGGGACCAGAATG	0.478000														72			26		0	0	0.003954	0	0
ADH1B	125	broad.mit.edu	37	4	100232053	100232053	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:100232053C>T	uc003hus.4	-	7	1056	c.972G>A	c.(970-972)aaG>aaA	p.K324K	ADH1B_uc003hut.4_Silent_p.K284K|ADH1B_uc011ceh.2_Silent_p.K169K|ADH1B_uc011cei.1_Silent_p.K284K	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	324					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)	CTTCTTTACTCTTAAAGCCTG	0.333000														68			49		0	0	0.014410	0	0
PRMT7	54496	broad.mit.edu	37	16	68373461	68373461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:68373461G>A	uc002evy.2	+	7	1085	c.741G>A	c.(739-741)atG>atA	p.M247I	PRMT7_uc010vlg.2_Missense_Mutation_p.M197I|PRMT7_uc002evz.2_Missense_Mutation_p.M93I	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	Homo sapiens protein arginine methyltransferase 7 (PRMT7), transcript variant 1, mRNA.	247					DNA methylation involved in gamete generation|cell differentiation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		TGCTGCCCATGTTCAGGTACC	0.522000														15			24		0	0	0.005443	0	0
MTOR	2475	broad.mit.edu	37	1	11187187	11187187	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:11187187A>T	uc001asd.3	-	44	6352	c.6231T>A	c.(6229-6231)gaT>gaA	p.D2077E	MTOR_uc001asc.3_Missense_Mutation_p.D282E	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	2077					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			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						CCTCCATTAAATCTCGACCAT	0.488000														43			19		0	0	0.008871	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968742	4968742	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrY:4968742C>T	uc004fqo.3	+	1	3857	c.3123C>T	c.(3121-3123)acC>acT	p.T1041T	PCDH11Y_uc010nwg.1_Silent_p.T1030T|PCDH11Y_uc004fql.1_Silent_p.T1030T|PCDH11Y_uc004fqm.1_Silent_p.T1030T|PCDH11Y_uc004fqn.1_Silent_p.T1041T|PCDH11Y_uc004fqp.1_Silent_p.T812T	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	1041					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCGTACACACCAGACCGGTAG	0.388000														9			49		0	0	0.014410	0	0
OR13C8	138802	broad.mit.edu	37	9	107331556	107331556	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:107331556G>A	uc011lvo.2	+	0	108	c.108G>A	c.(106-108)ctG>ctA	p.L36L		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GGATGTACCTGATGATCCTGC	0.453000														50			75		0	0	0.014410	0	0
LRRN1	57633	broad.mit.edu	37	3	3887126	3887126	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:3887126C>T	uc003bpt.4	+	1	1562	c.801C>T	c.(799-801)ttC>ttT	p.F267F	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.F267F	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	267						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)		ATTTGAAATTCTTAGACCTCA	0.408000														38			25		0	0	0.004656	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55290064	55290064	+	Splice_Site	SNP	G	A	A	rs113536578		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:55290064G>A	uc010erz.1	+	5	703	c.665_splice	c.e5-1	p.G222_splice	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qhb.1_Splice_Site_p.G222_splice	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	222					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)		CATGTTCTAGGAAACCCTTCA	0.493000														31			46		0	0	0.014410	0	0
RP1	6101	broad.mit.edu	37	8	55542352	55542352	+	Silent	SNP	G	A	A	rs67738115		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:55542352G>A	uc003xsd.1	+	3	6058	c.5910G>A	c.(5908-5910)gaG>gaA	p.E1970E	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1970					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)			TCAGGGAAGAGAACAATAAAG	0.299000														26			23		0	0	0.012319	0	0
SH3D19	152503	broad.mit.edu	37	4	152058918	152058918	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:152058918A>G	uc010ipl.1	-	14	2712	c.1622T>C	c.(1621-1623)aTt>aCt	p.I541T	SH3D19_uc003imb.2_Missense_Mutation_p.I296T|SH3D19_uc003imc.2_Missense_Mutation_p.I482T|SH3D19_uc003ime.2_Missense_Mutation_p.I518T|SH3D19_uc010ipm.2_Missense_Mutation_p.I518T	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	Homo sapiens SH3 domain containing 19 (SH3D19), transcript variant 1, mRNA.	541	SH3 2.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	Golgi apparatus|cytosol|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				AAATATGCCAATCTGGTTTCT	0.383000														50			21		0	0	0.005443	0	0
DSG3	1830	broad.mit.edu	37	18	29044228	29044228	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:29044228C>T	uc002kws.3	+	8	1263	c.1154C>T	c.(1153-1155)cCt>cTt	p.P385L		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	385					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCATTCCGTCCTGCTTCCAAG	0.393000														26			22		0	0	0.012319	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174219	150174219	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:150174219G>A	uc003whj.3	+	4	1679	c.1349G>A	c.(1348-1350)gGg>gAg	p.G450E		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	450						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)		AGCGGGACTGGGAAGAGTGCG	0.552000														68			32		0	0	0.004878	0	0
FAM47B	170062	broad.mit.edu	37	X	34961230	34961230	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:34961230G>A	uc004ddi.2	+	0	318	c.282G>A	c.(280-282)aaG>aaA	p.K94K		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	94										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AAAGCAGGAAGAAAAAGCTGC	0.527000														12			48		0	0	0.014410	0	0
SCN9A	6335	broad.mit.edu	37	2	167083152	167083152	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:167083152G>A	uc010fpl.3	-	23	4631	c.4290C>T	c.(4288-4290)atC>atT	p.I1430I	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1441						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ACCCAAAGATGATAAAGACGA	0.289000														10			3		0	0	0.004672	0	0
ADCY8	114	broad.mit.edu	37	8	131916183	131916183	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:131916183G>A	uc003ytd.4	-	6	2002	c.1746C>T	c.(1744-1746)atC>atT	p.I582I	ADCY8_uc010mds.3_Silent_p.I582I	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	582					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGTAAGTTTCGATATTATGCT	0.478000										HNSCC(32;0.087)				79			32		0	0	0.010818	0	0
AOC4	90586	broad.mit.edu	37	17	41019657	41019658	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:41019657_41019658GG>AA	uc002ibw.1	+	0	496_497	c.362_363GG>AA	c.(361-363)cgg>cAA	p.R121Q	AF047486_uc002ibx.3_5'Flank					Homo sapiens AOC3 pseudogene (AOC4), non-coding RNA.																		CCACCTGCCCGGGAGGCACTGG	0.658000														23			24		0	0	0.004672	0	0
GDF5	8200	broad.mit.edu	37	20	34025399	34025399	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:34025399G>A	uc010gfc.1	-	0	551	c.310C>T	c.(310-312)Cct>Tct	p.P104S	GDF5_uc002xck.1_Missense_Mutation_p.P104S	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	104					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TTGGGTTCAGGGCCGCCCGGT	0.632000														72			19		0	0	0.008871	0	0
CNGA3	1261	broad.mit.edu	37	2	99012514	99012514	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:99012514G>A	uc010fij.3	+	7	1034	c.893G>A	c.(892-894)aGg>aAg	p.R298K	CNGA3_uc002syt.3_Missense_Mutation_p.R294K|CNGA3_uc002syu.3_Missense_Mutation_p.R276K			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	294					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						ACAGAGACAAGGACCAACTAC	0.463000														29			16		0	0	0.003163	0	0
ESYT2	57488	broad.mit.edu	37	7	158536337	158536337	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:158536337C>T	uc003woc.1	-	15	1469	c.1230G>A	c.(1228-1230)ggG>ggA	p.G410G	ESYT2_uc003wob.1_Silent_p.G586G|ESYT2_uc003wny.1_5'Flank|ESYT2_uc003wnz.1_Silent_p.G25G|ESYT2_uc003woa.1_Silent_p.G163G	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	Homo sapiens extended synaptotagmin-like protein 2 (ESYT2), mRNA.	614	C2 1.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CCTTCAGGTTCCCCAGGGAAC	0.542000														22			15		0	0	0.002450	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779173	31779173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:31779173C>T	uc003nxh.3	-	1	760	c.577G>A	c.(577-579)Gga>Aga	p.G193R	HSPA1L_uc010jte.3_Missense_Mutation_p.G193R|HSPA1L_uc021yuz.1_Missense_Mutation_p.G193R	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	193					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGTCGTTCTCCTTGACCTCCT	0.453000														353			190		0	0	0.014410	0	0
TNNT3	7140	broad.mit.edu	37	11	1950358	1950358	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:1950358G>A	uc001luu.4	+	6	303	c.91G>A	c.(91-93)Gag>Aag	p.E31K	TNNT3_uc001lun.2_Intron|TNNT3_uc001luw.4_Intron|TNNT3_uc001luo.4_Intron|TNNT3_uc001lup.4_Intron|TNNT3_uc001luq.4_Intron|TNNT3_uc001lur.3_Intron|TNNT3_uc010qxf.2_Intron|TNNT3_uc010qxg.2_Intron|TNNT3_uc001lus.1_Intron|TNNT3_uc001lut.1_Non-coding_Transcript	NM_006757	NP_006748	P45378	TNNT3_HUMAN	Homo sapiens troponin T type 3 (skeletal, fast) (TNNT3), transcript variant 1, mRNA.	42					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		AGACACCGCAGAGGAGGACGC	0.662000														70			43		0	0	0.014410	0	0
PTPRG	5793	broad.mit.edu	37	3	62142809	62142809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:62142809C>T	uc003dlb.3	+	6	1470	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	PTPRG_uc003dlc.3_Missense_Mutation_p.R251W	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	251	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CAGCTATTATCGGTACACAGG	0.512000														74			39		0	0	0.006230	0	0
AP1M2	10053	broad.mit.edu	37	19	10685607	10685607	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:10685607G>A	uc002mpd.3	-	9	1236	c.1152C>T	c.(1150-1152)atC>atT	p.I384I	AP1M2_uc002mpc.3_Silent_p.I382I	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 2 subunit (AP1M2), mRNA.	382	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding	p.Y384H(1)		endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			TGAAGTAGGGGATCTCAAACT	0.612000														9			10		0	0	0.006214	0	0
ZBBX	79740	broad.mit.edu	37	3	167023697	167023697	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:167023697C>T	uc011bpc.2	-	16	1796	c.1459G>A	c.(1459-1461)Gat>Aat	p.D487N	ZBBX_uc003feq.3_Missense_Mutation_p.D458N|ZBBX_uc003fep.3_Missense_Mutation_p.D487N	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	487						intracellular	zinc ion binding	p.P486L(1)		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						GAATACACATCAGGATCCACG	0.289000														13			7		0	0	0.003080	0	0
RABGEF1	27342	broad.mit.edu	37	7	66270311	66270311	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:66270311C>T	uc003tvf.3	+	11	1840	c.624C>T	c.(622-624)atC>atT	p.I208I	RABGEF1_uc003tvg.3_Silent_p.I143I|RABGEF1_uc003tvh.3_Silent_p.I335I|RABGEF1_uc010lag.3_Silent_p.I335I|RABGEF1_uc011kee.2_Silent_p.I349I|RABGEF1_uc003tvi.3_Silent_p.I169I	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.	552	Interaction with ubiquitinated proteins.				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						AGTCTAATATCCAGTATATCA	0.502000														59			38		0	0	0.006999	0	0
TNXB	7148	broad.mit.edu	37	6	32065866	32065866	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:32065866G>A	uc003nzl.2	-	1	312	c.110C>T	c.(109-111)cCc>cTc	p.P37L	TNXB_uc010jts.1_Missense_Mutation_p.P36L|ATF6B_uc003nzm.1_3'UTR	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	37					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGGGGGCCGGGGGGCTGGCAG	0.642000														246			186		0	0	0.014410	0	0
ARPP21	10777	broad.mit.edu	37	3	35833997	35833997	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:35833997C>T	uc011axy.2	+	17	2371	c.2159C>T	c.(2158-2160)tCc>tTc	p.S720F	ARPP21_uc003cga.3_Missense_Mutation_p.S700F|ARPP21_uc003cgb.3_Missense_Mutation_p.S719F|ARPP21_uc003cgf.3_Missense_Mutation_p.S555F|ARPP21_uc003cgg.3_Missense_Mutation_p.S242F	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	719	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GTGATGGTTTCCTACCCAACA	0.463000														58			51		0	0	0.014410	0	0
KIF3B	9371	broad.mit.edu	37	20	30898063	30898063	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:30898063C>T	uc002wxq.3	+	1	663	c.483C>T	c.(481-483)acC>acT	p.T161T	KIF3B_uc010ztv.2_Silent_p.T161T|KIF3B_uc010ztw.2_Silent_p.T161T	NM_004798	NP_004789	O15066	KIF3B_HUMAN	Homo sapiens kinesin family member 3B (KIF3B), mRNA.	161	Kinesin-motor.				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)			AGGATCAGACCAAAAGGCTTG	0.473000														53			25		0	0	0.003330	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140308012	140308012	+	Missense_Mutation	SNP	C	T	T	rs137957181		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140308012C>T	uc003lih.2	+	0	1711	c.1535C>T	c.(1534-1536)tCc>tTc	p.S512F	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.S512F	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	536	Cadherin 5.				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)			GCCAAAACTTCCTTTGACTTT	0.493000														90			29		0	0	0.005443	0	0
CLEC3B	7123	broad.mit.edu	37	3	45077104	45077104	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:45077104C>T	uc003cok.4	+	2	393	c.297C>T	c.(295-297)atC>atT	p.I99I		NM_003278	NP_003269	P05452	TETN_HUMAN	Homo sapiens C-type lectin domain family 3, member B (CLEC3B), mRNA.	99	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGACTGCATCTCGCGCGGGG	0.642000														38			18		0	0	0.006122	0	0
COL1A1	1277	broad.mit.edu	37	17	48266534	48266534	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:48266534G>A	uc002iqm.3	-	39	3058	c.2932C>T	c.(2932-2934)Ccc>Tcc	p.P978S		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	978	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)	CTTACAGAGGGGCCAGGAAGA	0.602000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							22			22		0	0	0.012319	0	0
MDN1	23195	broad.mit.edu	37	6	90433234	90433234	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:90433234G>A	uc003pnn.1	-	38	5891	c.5775C>T	c.(5773-5775)aaC>aaT	p.N1925N		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	1925					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)		TACTTACTTGGTTATTGAAAG	0.338000														32			5		0	0	0.000602	0	0
XPOT	11260	broad.mit.edu	37	12	64828638	64828638	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:64828638C>T	uc001ssb.3	+	20	3140	c.2634C>T	c.(2632-2634)ttC>ttT	p.F878F		NM_007235	NP_009166	O43592	XPOT_HUMAN	Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA.	878	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		CCGCATGTTTCCTAGCACCTT	0.378000														63			33		0	0	0.006230	0	0
FOXR1	283150	broad.mit.edu	37	11	118851203	118851203	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:118851203G>A	uc001pui.3	+	4	840	c.615G>A	c.(613-615)aaG>aaA	p.K205K	FOXR1_uc001puj.3_Intron|FOXR1_uc001puk.3_Silent_p.K36K	NM_181721	NP_859072	Q6PIV2	FOXR1_HUMAN	Homo sapiens forkhead box R1 (FOXR1), mRNA.	205					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		TCCATAGAAAGCACTTCCCCT	0.542000														27			35		0	0	0.013726	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269605	150269605	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:150269605G>A	uc003whl.3	+	2	529	c.447G>A	c.(445-447)atG>atA	p.M149I	GIMAP4_uc011kuu.2_Missense_Mutation_p.M10I|GIMAP4_uc011kuv.2_Missense_Mutation_p.M163I	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	149							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)		GAAGTTTCATGATTCTCATAT	0.453000														38			26		0	0	0.003954	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113866	117113866	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:117113866G>A	uc003pxj.1	-	5	2242	c.2220C>T	c.(2218-2220)atC>atT	p.I740I	GPRC6A_uc003pxk.1_Silent_p.I565I|GPRC6A_uc003pxl.1_Silent_p.I669I	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	740					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ACTCCAGGATGATGACTCTGG	0.483000														22			16		0	0	0.004007	0	0
OR2T2	401992	broad.mit.edu	37	1	248616348	248616348	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:248616348C>T	uc001iek.1	+	0	250	c.250C>T	c.(250-252)Cag>Tag	p.Q84*		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAAGATGCTCCAGGACCTCCT	0.537000														194			40		0	0	0.014410	0	0
CASP2	835	broad.mit.edu	37	7	142991774	142991774	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:142991774C>T	uc003wco.3	+	5	896	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	CASP2_uc003wcp.3_3'UTR|CASP2_uc011kta.2_Missense_Mutation_p.R103C|CASP2_uc003wcq.3_Missense_Mutation_p.R188C	NM_032982	NP_116764	P42575	CASP2_HUMAN	Homo sapiens caspase 2, apoptosis-related cysteine peptidase (CASP2), transcript variant 1, mRNA.	219					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					ACTGGAATTTCGCTCTGGAGG	0.527000														62			47		0	0	0.014410	0	0
CATSPER3	347732	broad.mit.edu	37	5	134344644	134344644	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:134344644C>T	uc003lag.3	+	4	875	c.789C>T	c.(787-789)ttC>ttT	p.F263F		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	Homo sapiens cation channel, sperm associated 3 (CATSPER3), mRNA.	263					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCAACATGTTCGTGGGTGTGA	0.542000														47			32		0	0	0.010818	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432604	104432604	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:104432604C>T	uc004bbp.2	-	2	2691	c.2090G>A	c.(2089-2091)tGg>tAg	p.W697*	GRIN3A_uc004bbq.1_Nonsense_Mutation_p.W697*	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	697					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TGGACTCTTCCATTCATACAG	0.488000														40			54		0	0	0.014410	0	0
MYOCD	93649	broad.mit.edu	37	17	12666806	12666806	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:12666806G>A	uc002gno.2	+	13	3105	c.2806G>A	c.(2806-2808)Gaa>Aaa	p.E936K	MYOCD_uc002gnn.2_Missense_Mutation_p.E888K|MYOCD_uc002gnq.2_Missense_Mutation_p.E612K	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	888					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ATCTCCCTGGGAAACCATGGA	0.547000														13			17		0	0	0.004990	0	0
IMPG1	3617	broad.mit.edu	37	6	76660566	76660566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:76660566C>T	uc003pik.1	-	12	1667	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	513					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				ACCATATCTTCGCCACCTGCA	0.493000														34			18		0	0	0.004990	0	0
CSMD1	64478	broad.mit.edu	37	8	2910139	2910139	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:2910139C>T	uc022aqr.1	-	49	7895	c.7505G>A	c.(7504-7506)gGa>gAa	p.G2502E	CSMD1_uc011kwj.2_Missense_Mutation_p.G1832E|CSMD1_uc010lrg.3_Missense_Mutation_p.G571E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2503	Sushi 15.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGAACCGTTTCCTGGGGATTC	0.418000														19			13		0	0	0.007413	0	0
HDGFL1	154150	broad.mit.edu	37	6	22570498	22570498	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:22570498G>A	uc003nds.3	+	0	821	c.694G>A	c.(694-696)Gag>Aag	p.E232K		NM_138574	NP_612641	Q5TGJ6	HDGL1_HUMAN	Homo sapiens hepatoma derived growth factor-like 1 (HDGFL1), mRNA.	232	Glu-rich.							p.E232*(2)		kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					AGTCGCGGACGAGGAGGCCTC	0.697000														6			3		0	0	0.004672	0	0
SCN7A	6332	broad.mit.edu	37	2	167328850	167328850	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:167328850G>A	uc002udu.2	-	4	679	c.549C>T	c.(547-549)ctC>ctT	p.L183L	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.	183					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						CGCTGAAATCGAGCCAGTTCC	0.353000														10			6		0	0	0.001984	0	0
CDH12	1010	broad.mit.edu	37	5	21854885	21854885	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:21854885G>A	uc010iuc.2	-	3	999	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	CDH12_uc011cno.1_Intron|CDH12_uc003jgk.2_Nonsense_Mutation_p.Q181*	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	181	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L180L(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GCCTTGACCTGGAGTACATAT	0.418000										HNSCC(59;0.17)				28			19		0	0	0.007413	0	0
ZNF229	7772	broad.mit.edu	37	19	44934400	44934400	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:44934400C>T	uc002oze.1	-	5	990	c.556G>A	c.(556-558)Gga>Aga	p.G186R	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.G180R	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GCCCAAGATCCTTGAATGGGG	0.423000														51			33		0	0	0.010818	0	0
PANK3	79646	broad.mit.edu	37	5	167990990	167990990	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:167990990G>A	uc003lzz.2	-	3	1042	c.716C>T	c.(715-717)tCc>tTc	p.S239F		NM_024594	NP_078870	Q9H999	PANK3_HUMAN	Homo sapiens pantothenate kinase 3 (PANK3), mRNA.	239					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		ATCACCTTTGGATGCCATTTC	0.423000														156			40		0	0	0.009718	0	0
DPEP1	1800	broad.mit.edu	37	16	89703943	89703943	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:89703943A>G	uc010cin.3	+	7	1039	c.836A>G	c.(835-837)aAc>aGc	p.N279S	DPEP1_uc002fnr.4_Missense_Mutation_p.N279S|DPEP1_uc002fns.4_Missense_Mutation_p.N279S	NM_001128141	NP_004404	P16444	DPEP1_HUMAN	Homo sapiens dipeptidase 1 (renal) (DPEP1), transcript variant 2, mRNA.	279					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	AACAAGGCCAACCTGTCCCAA	0.577000														52			51		0	0	0.014410	0	0
MYH11	4629	broad.mit.edu	37	16	15818560	15818560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:15818560C>T	uc002ddx.3	-	30	4188	c.4081G>A	c.(4081-4083)Gag>Aag	p.E1361K	MYH11_uc002ddv.3_Missense_Mutation_p.E1361K|MYH11_uc002ddw.3_Missense_Mutation_p.E1354K|MYH11_uc002ddy.3_Missense_Mutation_p.E1354K|MYH11_uc010bvg.3_Missense_Mutation_p.E1186K|NDE1_uc010uzy.2_3'UTR|NDE1_uc002dds.3_3'UTR|MYH11_uc010bvh.3_Missense_Mutation_p.E60K|NDE1_uc002ddz.1_Non-coding_Transcript	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1354					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						TCCATCTCCTCGTCCAGCTGG	0.592000			T	CBFB	AML									85			76		0	0	0.014410	0	0
LTBP2	4053	broad.mit.edu	37	14	74970008	74970008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:74970008C>T	uc001xqa.3	-	32	5189	c.4802G>A	c.(4801-4803)gGg>gAg	p.G1601E		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1601	TB 4.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.R1600C(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGTGCGGTGCCCACGCAGGGG	0.627000														35			16		0	0	0.004990	0	0
KLHL22	84861	broad.mit.edu	37	22	20819664	20819664	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:20819664G>A	uc002zsl.2	-	3	750	c.593C>T	c.(592-594)tCc>tTc	p.S198F	KLHL22_uc011ahr.2_Missense_Mutation_p.S55F	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA.	198					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCTGAGGAGGGAGTAGACCTT	0.557000														43			34		0	0	0.013726	0	0
TEAD1	7003	broad.mit.edu	37	11	12901314	12901314	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:12901314C>T	uc021qdx.1	+	5	1010	c.390C>T	c.(388-390)atC>atT	p.I130I	TEAD1_uc001mkk.4_Silent_p.I34I|TEAD1_uc009ygl.3_Silent_p.I9I	NM_021961	NP_068780	P28347	TEAD1_HUMAN	Homo sapiens TEA domain family member 1 (SV40 transcriptional enhancer factor) (TEAD1), mRNA.	130					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CAGCCCAGATCGTCTCGGCCA	0.567000														56			34		0	0	0.013726	0	0
PTCHD1	139411	broad.mit.edu	37	X	23412060	23412060	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:23412060C>T	uc004dal.4	+	2	2433	c.2425C>T	c.(2425-2427)Ctg>Ttg	p.L809L		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	809					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TATTGTTGGTCTGATTCCTCT	0.413000														9			41		0	0	0.006230	0	0
HPSE2	60495	broad.mit.edu	37	10	100249824	100249824	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:100249824A>G	uc001kpn.2	-	9	1523	c.1450T>C	c.(1450-1452)Tgc>Cgc	p.C484R	HPSE2_uc009xwc.2_Missense_Mutation_p.C484R|HPSE2_uc001kpo.2_Missense_Mutation_p.C426R|HPSE2_uc009xwd.2_Missense_Mutation_p.C372R	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA.	484					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TGGTTTGTGCAGTGAGCATAA	0.567000														119			28		0	0	0.009535	0	0
PRKDC	5591	broad.mit.edu	37	8	48809737	48809737	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:48809737G>A	uc003xqi.3	-	29	3639	c.3582C>T	c.(3580-3582)ttC>ttT	p.F1194F	PRKDC_uc003xqj.3_Silent_p.F1194F	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	1194					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.F1194F(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ATAAAGGAACGAATTTATAAA	0.368000								Non-homologous end-joining						138			71		0	0	0.014410	0	0
KIF26B	55083	broad.mit.edu	37	1	245530178	245530178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:245530178C>T	uc001ibf.1	+	2	948	c.508C>T	c.(508-510)Ccc>Tcc	p.P170S	KIF26B_uc010pyq.1_Missense_Mutation_p.P170S|KIF26B_uc010pyr.2_5'UTR	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	170					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ACTCCAGGTCCCCAACACCAT	0.547000														20			9		0	0	0.006214	0	0
OLFML1	283298	broad.mit.edu	37	11	7530740	7530740	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:7530740T>A	uc001mfi.3	+	2	1037	c.530T>A	c.(529-531)tTa>tAa	p.L177*	OLFML1_uc010raz.2_Nonsense_Mutation_p.L41*|OLFML1_uc010rba.2_Nonsense_Mutation_p.L177*	NM_198474	NP_940876	Q6UWY5	OLFL1_HUMAN	Homo sapiens olfactomedin-like 1 (OLFML1), mRNA.	177	Olfactomedin-like.					extracellular region		p.Y176*(1)|p.Y176C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AAGGTGTACTTATTAATTGGA	0.418000														58			33		0	0	0.012213	0	0
THBS1	7057	broad.mit.edu	37	15	39877740	39877740	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:39877740G>A	uc001zkh.3	+	6	1275	c.1096G>A	c.(1096-1098)Gga>Aga	p.G366R		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	366	VWFC.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	AGTTCCTGATGGAGAATGCTG	0.502000														35			30		0	0	0.004289	0	0
DENND4B	9909	broad.mit.edu	37	1	153906756	153906756	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:153906756G>A	uc001fdd.1	-	18	3197	c.2796C>T	c.(2794-2796)tcC>tcT	p.S932S		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	932										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCGAGTAGGGGAAGGGCGCT	0.587000														9			5		0	0	0.001168	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167623	140167623	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140167623G>A	uc003lhb.2	+	0	1748	c.1748G>A	c.(1747-1749)cGa>cAa	p.R583Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R583Q	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	596					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)			CTGGTGCCGCGATTGGTGGGT	0.662000														41			31		0	0	0.009535	0	0
DNAH3	55567	broad.mit.edu	37	16	20974677	20974678	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:20974677_20974678CC>TT	uc010vbe.2	-	52	10528_10529	c.10528_10529GG>AA	c.(10528-10530)gga>AAa	p.G3510K	DNAH3_uc010vbd.2_Missense_Mutation_p.G945K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3510	AAA 6 (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)		ATTGTAGGATCCCTGGAGATCG	0.505000														22			28		0	0	0.004672	0	0
RAD50	10111	broad.mit.edu	37	5	131940662	131940662	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:131940662G>A	uc003kxi.3	+	15	3090	c.2689G>A	c.(2689-2691)Gaa>Aaa	p.E897K	RAD50_uc003kxh.3_Missense_Mutation_p.E758K	NM_005732	NP_005723	Q92878	RAD50_HUMAN	Homo sapiens RAD50 homolog (S. cerevisiae) (RAD50), mRNA.	897					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTATCCACTGAAGTTCAGTC	0.299000								Homologous recombination						23			10		0	0	0.002450	0	0
ZEB1	6935	broad.mit.edu	37	10	31809938	31809938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:31809938C>T	uc001ivs.4	+	6	1738	c.1675C>T	c.(1675-1677)Cct>Tct	p.P559S	ZEB1_uc001ivr.4_Missense_Mutation_p.P341S|ZEB1_uc010qef.2_Missense_Mutation_p.P341S|ZEB1_uc009xlj.1_Missense_Mutation_p.P485S|ZEB1_uc010qeg.1_Missense_Mutation_p.P418S|ZEB1_uc009xlk.1_Missense_Mutation_p.P341S|ZEB1_uc001ivu.4_Missense_Mutation_p.P560S|ZEB1_uc010qeh.2_Missense_Mutation_p.P492S|ZEB1_uc001ivv.4_Missense_Mutation_p.P539S|ZEB1_uc001ivt.4_Missense_Mutation_p.P341S|ZEB1_uc009xlo.2_Missense_Mutation_p.P542S|ZEB1_uc009xlp.3_Missense_Mutation_p.P543S	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	559					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TACTCAGCCTCCTCCACTCCC	0.463000														44			13		0	0	0.013537	0	0
MYO1A	4640	broad.mit.edu	37	12	57441875	57441875	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:57441875T>A	uc001smw.4	-	2	368	c.128A>T	c.(127-129)aAt>aTt	p.N43I	MYO1A_uc010sqz.2_5'Flank|MYO1A_uc009zpd.3_Missense_Mutation_p.N43I	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	43	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GATCACCACATTCCCAATGTA	0.502000														35			20		0	0	0.002780	0	0
KCNQ2	3785	broad.mit.edu	37	20	62038246	62038246	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:62038246G>A	uc002yey.1	-	16	2547	c.2370C>T	c.(2368-2370)atC>atT	p.I790I	KCNQ2_uc002yez.1_Silent_p.I759I|KCNQ2_uc002yfa.1_Silent_p.I772I|KCNQ2_uc002yfb.1_Silent_p.I762I	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	790					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.I790I(2)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CCACGGACGGGATGGAGATGG	0.672000														15			7		0	0	0.004482	0	0
ALPK2	115701	broad.mit.edu	37	18	56274597	56274597	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:56274597C>T	uc002lhj.4	-	2	398	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	62	Ig-like 1.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCAAAGAATTCATAGTTGGAA	0.398000														42			39		0	0	0.005524	0	0
ACOX1	51	broad.mit.edu	37	17	73947504	73947504	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:73947504G>A	uc002jqe.3	-	7	1460	c.1099C>T	c.(1099-1101)Ctg>Ttg	p.L367L	ACOX1_uc010wsq.2_Silent_p.L329L|ACOX1_uc010wsr.2_Silent_p.L299L|ACOX1_uc002jqf.3_Silent_p.L367L	NM_004035	NP_001171968	Q15067	ACOX1_HUMAN	Homo sapiens acyl-CoA oxidase 1, palmitoyl (ACOX1), transcript variant 1, mRNA.	367					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						ACCTCAGGCAGTTCACTCAGG	0.498000														69			33		0	0	0.012213	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151214659	151214659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:151214659C>T	uc001exj.3	+	12	1876	c.1424C>T	c.(1423-1425)tCc>tTc	p.S475F	PIP5K1A_uc021oyo.1_Missense_Mutation_p.S463F|PIP5K1A_uc001exi.3_Missense_Mutation_p.S462F|PIP5K1A_uc010pcu.2_Missense_Mutation_p.S435F|PIP5K1A_uc001exk.3_Intron|PIP5K1A_uc010pcv.2_Intron	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, alpha (PIP5K1A), transcript variant 1, mRNA.	475					phospholipid biosynthetic process|signal transduction	Golgi stack|endomembrane system|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			CGAGCAGGCTCCAGTGGCAAC	0.522000														127			73		0	0	0.014410	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94650919	94650919	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:94650919G>A	uc001dqj.4	-	16	2268	c.1899C>T	c.(1897-1899)ttC>ttT	p.F633F	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Silent_p.F199F	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	633					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CAACACCTTGGAACACTACAA	0.353000														67			29		0	0	0.009535	0	0
KLF12	11278	broad.mit.edu	37	13	74420350	74420350	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:74420350G>A	uc001vjf.3	-	3	506	c.284C>T	c.(283-285)gCc>gTc	p.A95V	KLF12_uc010aeq.3_Missense_Mutation_p.A95V|KLF12_uc001vjg.3_Missense_Mutation_p.A95V	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN	Homo sapiens Kruppel-like factor 12 (KLF12), mRNA.	95					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.A95P(1)		central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		GGATGAAACGGCAGTAGGGGA	0.507000														61			37		0	0	0.006999	0	0
SCGN	10590	broad.mit.edu	37	6	25665236	25665236	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:25665236G>A	uc003nfb.3	+	3	515	c.312G>A	c.(310-312)ctG>ctA	p.L104L	SCGN_uc010jpz.3_Nonsense_Mutation_p.W14*	NM_006998	NP_008929	O76038	SEGN_HUMAN	Homo sapiens secretagogin, EF-hand calcium binding protein (SCGN), mRNA.	104						extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						AAAACCCACTGGACAGCAGCG	0.488000														53			18		0	0	0.007413	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73302721	73302721	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:73302721G>A	uc002siu.4	-	4	2131	c.1890C>T	c.(1888-1890)atC>atT	p.I630I	RAB11FIP5_uc002sis.4_Missense_Mutation_p.S9L|RAB11FIP5_uc002sit.4_Silent_p.I552I	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	630	FIP-RBD.				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GCAGCCGGTCGATGTAGCTCT	0.652000														29			20		0	0	0.010504	0	0
USP39	10713	broad.mit.edu	37	2	85866461	85866462	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:85866461_85866462CC>TT	uc002sqe.3	+	8	1267_1268	c.1231_1232CC>TT	c.(1231-1233)ccc>TTc	p.P411F	USP39_uc002sqb.3_Missense_Mutation_p.P142F|USP39_uc010ysu.2_Missense_Mutation_p.P333F|USP39_uc010ysv.2_Missense_Mutation_p.P308F|USP39_uc010fgn.1_Missense_Mutation_p.P411F|USP39_uc002sqg.3_Missense_Mutation_p.P411F|USP39_uc010fgo.3_Missense_Mutation_p.P411F	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN	Homo sapiens ubiquitin specific peptidase 39 (USP39), mRNA.	411					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						GCTCATCATTCCCCAAGTGCCA	0.525000														28			20		0	0	0.004672	0	0
FBN3	84467	broad.mit.edu	37	19	8176036	8176036	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:8176036G>A	uc002mjf.3	-	31	4133	c.4116C>T	c.(4114-4116)ctC>ctT	p.L1372L		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1372	EGF-like 21; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGTTGTCACAGAGGTCCACGT	0.657000														33			13		0	0	0.013537	0	0
C1S	716	broad.mit.edu	37	12	7172504	7172504	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:7172504C>T	uc001qsj.3	+	8	1337	c.618C>T	c.(616-618)atC>atT	p.I206I	C1S_uc001qsk.3_Silent_p.I206I|C1S_uc001qsl.3_Silent_p.I206I|C1S_uc009zfr.3_Silent_p.I39I|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	206	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	AATACCAGATCCGGTTGGAGA	0.473000														104			72		0	0	0.014410	0	0
CCNK	8812	broad.mit.edu	37	14	99959863	99959863	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:99959863C>T	uc001ygi.4	+	2	340	c.210C>T	c.(208-210)acC>acT	p.T70T		NM_001099402	NP_001092872	O75909	CCNK_HUMAN	Homo sapiens cyclin K (CCNK), mRNA.	70					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding	p.T70I(1)		NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				ACTATGATACCCTGGCAACTG	0.313000														37			19		0	0	0.007413	0	0
DSG3	1830	broad.mit.edu	37	18	29054340	29054340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:29054340G>A	uc002kws.3	+	14	2467	c.2358G>A	c.(2356-2358)atG>atA	p.M786I	DSG3_uc002kwt.3_Missense_Mutation_p.M68I	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	786					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CGATAAGCATGAATTTTCTGG	0.398000														65			19		0	0	0.012319	0	0
AARS2	57505	broad.mit.edu	37	6	44269818	44269818	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:44269818G>A	uc010jza.1	-	18	2580	c.2577C>T	c.(2575-2577)atC>atT	p.I859I	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.	859					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)	GCAGCTTACGGATGGCAGTGT	0.597000														24			11		0	0	0.008291	0	0
SCAND3	114821	broad.mit.edu	37	6	28539927	28539927	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:28539927G>A	uc003nlo.3	-	3	4357	c.3739C>T	c.(3739-3741)Cct>Tct	p.P1247S		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1247					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						caaaatgaaggaagtgatgct	0.368000														32			18		0	0	0.007413	0	0
SHCBP1	79801	broad.mit.edu	37	16	46638319	46638319	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:46638319G>T	uc002eec.4	-	5	784	c.744C>A	c.(742-744)caC>caA	p.H248Q		NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN	Homo sapiens SHC SH2-domain binding protein 1 (SHCBP1), mRNA.	248										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				ACAACAGATTGTGGTAGTCAA	0.383000														64			41		3.2641e-12	3.62331e-12	0.013114	1	0
PCLO	27445	broad.mit.edu	37	7	82545020	82545020	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:82545020G>A	uc003uhx.2	-	6	12571	c.12282C>T	c.(12280-12282)ttC>ttT	p.F4094F	PCLO_uc003uhv.2_Silent_p.F4094F|PCLO_uc010lec.3_Silent_p.F1059F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4025					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAGGTGCTAGGAAATCTGTCA	0.453000														13			15		0	0	0.002450	0	0
SERPINB13	5275	broad.mit.edu	37	18	61261698	61261698	+	Silent	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:61261698A>G	uc010xep.2	+	5	777	c.609A>G	c.(607-609)gaA>gaG	p.E203E	SERPINB13_uc002ljc.3_Silent_p.E194E|SERPINB13_uc002ljd.3_Silent_p.E58E|SERPINB13_uc010xeq.2_Silent_p.E15E|SERPINB13_uc010xer.2_Silent_p.E15E	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	194					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTAAGAAAGAAAATACTAAGG	0.398000														35			9		0	0	0.010729	0	0
STAC2	342667	broad.mit.edu	37	17	37369809	37369809	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:37369809G>A	uc002hrs.3	-	8	1229	c.944C>T	c.(943-945)cCt>cTt	p.P315L	STAC2_uc010cvt.3_Missense_Mutation_p.P173L	NM_198993	NP_945344	Q6ZMT1	STAC2_HUMAN	Homo sapiens SH3 and cysteine rich domain 2 (STAC2), mRNA.	315	SH3.				intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CCGATCTCCAGGCCTGGGGAG	0.622000														51			21		0	0	0.003330	0	0
DSG3	1830	broad.mit.edu	37	18	29044213	29044213	+	Missense_Mutation	SNP	G	A	A	rs146025709		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:29044213G>A	uc002kws.3	+	8	1248	c.1139G>A	c.(1138-1140)gGa>gAa	p.G380E		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	380	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.G380E(2)|p.E379*(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTAAGAGAAGGAATTGCATTC	0.388000														28			24		0	0	0.002780	0	0
DOK2	9046	broad.mit.edu	37	8	21766993	21766993	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:21766993G>A	uc003wzx.1	-	4	1161	c.1068C>T	c.(1066-1068)ctC>ctT	p.L356L	DOK2_uc003wzy.1_Silent_p.L356L|DOK2_uc003wzz.1_Silent_p.L202L|DOK2_uc010lth.1_Silent_p.L202L	NM_003974	NP_003965	O60496	DOK2_HUMAN	Homo sapiens docking protein 2, 56kDa (DOK2), mRNA.	356	Pro-rich.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GGCTGTCATAGAGGGACAGGG	0.667000														34			16		0	0	0.003163	0	0
ANKRD22	118932	broad.mit.edu	37	10	90582746	90582746	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:90582746C>T	uc001kfj.4	-	5	896	c.528G>A	c.(526-528)cgG>cgA	p.R176R		NM_144590	NP_653191	Q5VYY1	ANR22_HUMAN	Homo sapiens ankyrin repeat domain 22 (ANKRD22), mRNA.	176										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		ATTTTAATCTCCGTGCAATAT	0.403000														56			48		0	0	0.014410	0	0
TFRC	7037	broad.mit.edu	37	3	195798339	195798339	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:195798339C>T	uc003fvz.4	-	5	898	c.615G>A	c.(613-615)aaG>aaA	p.K205K	TFRC_uc003fwa.4_Silent_p.K205K|TFRC_uc010hzy.3_Silent_p.K124K|TFRC_uc011btr.2_5'UTR	NM_003234	NP_003225	P02786	TFR1_HUMAN	Homo sapiens transferrin receptor (p90, CD71) (TFRC), transcript variant 1, mRNA.	205					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		GTCTACCGTTCTTATCAACTA	0.388000			T	BCL6	NHL									43			27		0	0	0.006320	0	0
NLRP1	22861	broad.mit.edu	37	17	5425029	5425029	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:5425029C>T	uc002gci.3	-	12	4153	c.3598G>A	c.(3598-3600)Gtg>Atg	p.V1200M	NLRP1_uc002gcg.1_Missense_Mutation_p.V1204M|NLRP1_uc002gch.4_Missense_Mutation_p.V1200M|NLRP1_uc002gck.3_Missense_Mutation_p.V1200M|NLRP1_uc002gcj.3_Missense_Mutation_p.V1170M|NLRP1_uc002gcl.3_Missense_Mutation_p.V1170M	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1200					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TGCAGCTCCACCCTGGCTGGC	0.532000														28			31		0	0	0.010818	0	0
KIAA0528	9847	broad.mit.edu	37	12	22643080	22643080	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:22643080G>A	uc010sit.2	-	12	1569	c.1341C>T	c.(1339-1341)acC>acT	p.T447T	KIAA0528_uc010sir.2_Silent_p.T260T|KIAA0528_uc010sis.2_Silent_p.T445T|KIAA0528_uc001rfq.3_Silent_p.T445T|KIAA0528_uc010siu.2_Silent_p.T445T|KIAA0528_uc001rfr.3_Silent_p.T436T|KIAA0528_uc009ziy.1_Silent_p.T447T	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	Homo sapiens KIAA0528 (KIAA0528), mRNA.	445							protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGCCTTCCACGGTGCCATCCT	0.448000														51			32		0	0	0.003755	0	0
PDE6A	5145	broad.mit.edu	37	5	149276015	149276015	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:149276015G>A	uc003lrg.4	-	11	1644	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	PDE6A_uc021yfs.1_Silent_p.F427F	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	508					GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GTAAGTCACTGAAGTGAAATT	0.393000														41			15		0	0	0.002450	0	0
NLE1	54475	broad.mit.edu	37	17	33464139	33464139	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:33464139G>A	uc002hiy.1	-	6	737	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	NLE1_uc002hiz.1_5'UTR	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN	Homo sapiens notchless homolog 1 (Drosophila) (NLE1), transcript variant 1, mRNA.	237						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CGCTCACAGCGGCCTGCAGTT	0.627000														33			31		0	0	0.009535	0	0
CAPN10	11132	broad.mit.edu	37	2	241534054	241534054	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:241534054C>T	uc002vzk.2	+	5	1121	c.925C>T	c.(925-927)Ctc>Ttc	p.L309F	CAPN10_uc010zoh.2_Missense_Mutation_p.L309F|CAPN10_uc002vzp.2_Non-coding_Transcript|CAPN10_uc002vzm.2_Intron|CAPN10_uc002vzl.2_Missense_Mutation_p.L309F|CAPN10_uc002vzn.2_Missense_Mutation_p.L181F|CAPN10_uc002vzo.2_Non-coding_Transcript|CAPN10_uc010fzg.2_Non-coding_Transcript|CAPN10_uc002vzq.2_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA.	309	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGAGGAGTTCCTCAGGGAGTT	0.637000														46			63		0	0	0.014410	0	0
MYO5B	4645	broad.mit.edu	37	18	47566675	47566675	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:47566675A>T	uc002leb.2	-	2	436	c.148T>A	c.(148-150)Tac>Aac	p.Y50N	MYO5B_uc021ukb.1_Missense_Mutation_p.Y49N	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	50	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCAATTGGGTATTCCAGAATC	0.438000														139			96		0	0	0.014410	0	0
PSG4	5672	broad.mit.edu	37	19	43414942	43414942	+	Silent	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:43414942A>G	uc002ovj.1	-	2	595	c.496T>C	c.(496-498)Tta>Cta	p.L166L	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Silent_p.L166L	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	167	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TCACAGATTAAGCGCACAGCC	0.532000														145			77		0	0	0.014410	0	0
RP1L1	94137	broad.mit.edu	37	8	10469043	10469043	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:10469043G>A	uc003wtc.3	-	3	2794	c.2565C>T	c.(2563-2565)acC>acT	p.T855T		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	855					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCCTGGGCGGGGTGGGACAGT	0.731000														11			11		0	0	0.010729	0	0
A2ML1	144568	broad.mit.edu	37	12	9013789	9013789	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:9013789A>G	uc001quz.4	+	27	3496	c.3398A>G	c.(3397-3399)aAc>aGc	p.N1133S	A2ML1_uc001qva.1_Missense_Mutation_p.N713S|A2ML1_uc010sgm.2_Missense_Mutation_p.N633S	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	977						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						TCCACGACCAACCTCTACACA	0.458000														72			34		0	0	0.013726	0	0
TRIM11	81559	broad.mit.edu	37	1	228582615	228582615	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:228582615G>A	uc001hss.3	-	5	1453	c.1198C>T	c.(1198-1200)Cca>Tca	p.P400S	TRIM11_uc010pvx.2_Missense_Mutation_p.P399S	NM_145214	NP_660215	Q96F44	TRI11_HUMAN	Homo sapiens tripartite motif containing 11 (TRIM11), mRNA.	400	B30.2/SPRY.				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				CGCCTGGGTGGGTCCCGGAGT	0.597000														47			24		0	0	0.003954	0	0
CELSR3	1951	broad.mit.edu	37	3	48694669	48694669	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:48694669G>A	uc003cuf.1	-	3	4071	c.4071C>T	c.(4069-4071)ttC>ttT	p.F1357F	CELSR3_uc003cul.3_Silent_p.F1287F	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1287					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCGGTGACAGGAAGCGCTCCT	0.637000														12			8		0	0	0.003080	0	0
ZYX	7791	broad.mit.edu	37	7	143079436	143079436	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:143079436G>A	uc003wcx.3	+	2	462	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	ZYX_uc011ktd.2_5'UTR|ZYX_uc003wcw.3_Missense_Mutation_p.E102K|ZYX_uc011kte.2_Missense_Mutation_p.E102K|ZYX_uc011ktf.2_5'UTR	NM_003461	NP_003452	Q15942	ZYX_HUMAN	Homo sapiens zyxin (ZYX), transcript variant 1, mRNA.	102	Pro-rich.				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CCCGATCGAGGAATCATTTCC	0.697000														15			17		0	0	0.006122	0	0
GRIN2A	2903	broad.mit.edu	37	16	9916226	9916226	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:9916226C>T	uc010uym.2	-	10	2373	c.2063G>A	c.(2062-2064)gGa>gAa	p.G688E	GRIN2A_uc002czo.4_Missense_Mutation_p.G688E|GRIN2A_uc010uyn.2_Missense_Mutation_p.G531E|GRIN2A_uc002czr.4_Missense_Mutation_p.G688E	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	688					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTCCGTGCTTCCATTAGGCAC	0.443000														41			13		0	0	0.002450	0	0
AIM1L	55057	broad.mit.edu	37	1	26655269	26655269	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:26655269C>T	uc001bmd.4	-	15	4560	c.4410G>A	c.(4408-4410)gaG>gaA	p.E1470E		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	425							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TGTTGAAGCCCTCGGCTTGCA	0.602000														63			35		0	0	0.005524	0	0
PCDH18	54510	broad.mit.edu	37	4	138452734	138452734	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:138452734G>A	uc003ihe.4	-	0	896	c.509C>T	c.(508-510)tCc>tTc	p.S170F	PCDH18_uc003ihf.4_Missense_Mutation_p.S163F|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_5'UTR|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	170	Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGTGTGGAGGGAATTTTCCCC	0.458000														31			15		0	0	0.003163	0	0
NF1	4763	broad.mit.edu	37	17	29665053	29665053	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:29665053C>T	uc002hgg.3	+	44	7098	c.6715C>T	c.(6715-6717)Caa>Taa	p.Q2239*	NF1_uc002hgh.3_Nonsense_Mutation_p.Q2218*|NF1_uc010cso.3_Nonsense_Mutation_p.Q427*|NF1_uc010wbt.1_Intron|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2239					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATTTGCATTCCAATATAATCC	0.328000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				42			39		0	0	0.006230	0	0
GPC5	2262	broad.mit.edu	37	13	92101140	92101140	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:92101140A>G	uc010tif.2	+	1	655	c.289A>G	c.(289-291)Aag>Gag	p.K97E		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	97						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)				CTCTACATTAAAGTTTCTAAT	0.428000														47			28		0	0	0.007291	0	0
OR6B3	150681	broad.mit.edu	37	2	240984548	240984548	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:240984548C>T	uc010zoe.2	-	0	942	c.942G>A	c.(940-942)ggG>ggA	p.G314G	PRR21_uc010zod.2_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 3 (OR6B3), mRNA.	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		TAGAAAGCCTCCCCTCTACGG	0.458000														113			42		0	0	0.008740	0	0
LRPPRC	10128	broad.mit.edu	37	2	44153096	44153096	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:44153096G>A	uc002rtr.2	-	25	2799	c.2741C>T	c.(2740-2742)cCa>cTa	p.P914L	LRPPRC_uc010yob.1_Missense_Mutation_p.P814L	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	914					mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCTAATCCCTGGAGTCTGTAA	0.363000														161			103		0	0	0.014410	0	0
CREB5	9586	broad.mit.edu	37	7	28858881	28858881	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:28858881G>A	uc003szq.3	+	10	1902	c.1512G>A	c.(1510-1512)ctG>ctA	p.L504L	CREB5_uc003szo.3_Silent_p.L471L|CREB5_uc003szr.3_Silent_p.L497L|CREB5_uc003szs.3_Silent_p.L365L	NM_182898	NP_878902	Q02930	CREB5_HUMAN	Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA.	504					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D503Y(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GAACAGACCTGAATCCGATTC	0.473000														281			183		0	0	0.014410	0	0
UBR2	23304	broad.mit.edu	37	6	42643851	42643851	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:42643851C>T	uc011dur.2	+	38	4607	c.4309C>T	c.(4309-4311)Ctt>Ttt	p.L1437F	UBR2_uc011dus.2_Missense_Mutation_p.L1082F|UBR2_uc003osh.3_Intron|UBR2_uc011dut.2_Missense_Mutation_p.L25F	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	1437					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AGGGATCAGCCTTGGCACTGG	0.468000														102			54		0	0	0.014410	0	0
APPL2	55198	broad.mit.edu	37	12	105600949	105600949	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:105600949G>C	uc010swu.1	-	7	747	c.529C>G	c.(529-531)Cgg>Ggg	p.R177G	APPL2_uc010swt.2_Missense_Mutation_p.R128G|APPL2_uc001tlf.1_Missense_Mutation_p.R171G|APPL2_uc001tlg.1_5'UTR|APPL2_uc009zuq.3_Missense_Mutation_p.R128G	NM_001251904	NP_001238833	Q8NEU8	DP13B_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (APPL2), transcript variant 2, mRNA.	171	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGCTTCCGCCGGGCCGCGGCC	0.517000														46			25		0	0	0.005443	0	0
PARP9	83666	broad.mit.edu	37	3	122274437	122274437	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:122274437G>A	uc010hri.3	-	3	831	c.686C>T	c.(685-687)aCt>aTt	p.T229I	PARP9_uc003eff.4_Missense_Mutation_p.T194I|PARP9_uc011bjs.2_Missense_Mutation_p.T194I|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Missense_Mutation_p.T194I|PARP9_uc003efh.3_Missense_Mutation_p.T229I|PARP9_uc003efj.2_Missense_Mutation_p.T194I	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.	229	Macro 1.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CTTAATGTGAGTATTTTTATA	0.423000														25			18		0	0	0.006122	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187712479	187712479	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:187712479G>A	uc002upu.1	-	1	249	c.209C>T	c.(208-210)cCg>cTg	p.P70L		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	70					apoptosis		zinc ion binding	p.P70Q(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CCCTCCTTTCGGAAATGTGGA	0.348000														55			29		0	0	0.013726	0	0
OR5M3	219482	broad.mit.edu	37	11	56237350	56237350	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:56237350G>A	uc010rjk.2	-	0	665	c.624C>T	c.(622-624)tcC>tcT	p.S208S	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	208					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)					TTACAGTCAGGGAATATGTGA	0.443000														46			41		0	0	0.014410	0	0
FBXW9	84261	broad.mit.edu	37	19	12800063	12800063	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:12800063G>A	uc010dyx.2	-	9	1404	c.1404C>T	c.(1402-1404)gaC>gaT	p.D468D	FBXW9_uc010xmp.2_Non-coding_Transcript|AX747991_uc002mul.1_Silent_p.R107R|FBXW9_uc002mum.1_Silent_p.D448D	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	Homo sapiens F-box and WD repeat domain containing 9 (FBXW9), mRNA.	478							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CTAGCGACAGGTCTCCAGAGC	0.657000														10			15		0	0	0.004990	0	0
SBSPON	157869	broad.mit.edu	37	8	74005100	74005100	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:74005100C>T	uc003xzf.3	-	0	408	c.203G>A	c.(202-204)aGg>aAg	p.R68K		NM_153225	NP_694957	Q8IVN8	RPESP_HUMAN	Homo sapiens chromosome 8 open reading frame 84 (C8orf84), mRNA.	68	SMB.				immune response	extracellular region	polysaccharide binding|scavenger receptor activity										TGGGCACGCCCTGTCGTAGTC	0.687000														21			14		0	0	0.002450	0	0
SPHKAP	80309	broad.mit.edu	37	2	228855733	228855733	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:228855733C>T	uc002vpq.2	-	10	4989	c.4942G>A	c.(4942-4944)Gaa>Aaa	p.E1648K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E1619K|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1648						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)		ATTCTGTTTTCCTGAGATTTC	0.463000														17			14		0	0	0.004007	0	0
CDCP2	200008	broad.mit.edu	37	1	54605545	54605546	+	Nonsense_Mutation	DNP	CC	TA	TA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:54605545_54605546CC>TA	uc001cwv.1	-	3	1845_1846	c.997_998GG>TA	c.(997-999)ggg>TAg	p.G333*		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	333	CUB 3.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						ACACCAATTCCCCAGCAGGGGT	0.639000														24			19		0	0	0.004672	0	0
DUPD1	338599	broad.mit.edu	37	10	76797602	76797602	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:76797602C>T	uc001jwq.1	-	2	655	c.655G>A	c.(655-657)Gag>Aag	p.E219K		NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN	Homo sapiens dual specificity phosphatase and pro isomerase domain containing 1 (DUPD1), mRNA.	219						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCCTACAGCTCCCTGCCATCC	0.637000														48			45		0	0	0.014410	0	0
DGKI	9162	broad.mit.edu	37	7	137284650	137284650	+	Splice_Site	SNP	C	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:137284650C>A	uc003vtt.3	-	11	1169	c.1168_splice	c.e11-1	p.G390_splice	DGKI_uc003vtu.3_Splice_Site_p.G90_splice	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	390	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GACTTTGGTTCCCTGTAAAAA	0.333000														26			21		4.96729e-08	5.48341e-08	0.008871	1	0
HDC	3067	broad.mit.edu	37	15	50540490	50540490	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:50540490G>A	uc001zxz.3	-	9	1434	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	HDC_uc001zxy.3_Silent_p.F107F|HDC_uc010uff.2_Intron	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	364					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	ACCGAATCACGAACCAGAGTT	0.522000														21			16		0	0	0.008871	0	0
ADH1B	125	broad.mit.edu	37	4	100231942	100231942	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:100231942G>A	uc003hus.4	-	7	1167	c.1083C>T	c.(1081-1083)gaC>gaT	p.D361D	ADH1B_uc003hut.4_Silent_p.D321D|ADH1B_uc011ceh.2_Silent_p.D206D|ADH1B_uc011cei.1_Silent_p.D321D	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	361					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)	AGTGAAGCAGGTCAAATCCTT	0.348000														64			21		0	0	0.010504	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558802	140558802	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140558802C>A	uc011dai.2	+	0	1432	c.1187C>A	c.(1186-1188)tCt>tAt	p.S396Y	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	396	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCTGAAATCTTCTGTGGGG	0.453000														147			25		7.87624e-14	8.75924e-14	0.002780	1	0
ACMSD	130013	broad.mit.edu	37	2	135630063	135630063	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:135630063G>A	uc002ttz.3	+	7	768	c.701G>A	c.(700-702)gGa>gAa	p.G234E	ACMSD_uc002tua.3_Missense_Mutation_p.G176E|LOC100129961_uc010zbe.2_Intron	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	Homo sapiens aminocarboxymuconate semialdehyde decarboxylase (ACMSD), mRNA.	234					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TTCACAGTGGGAAGAATCTCC	0.468000														22			12		0	0	0.003163	0	0
LMOD1	25802	broad.mit.edu	37	1	201869571	201869571	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:201869571C>T	uc021phl.1	-	1	818	c.570G>A	c.(568-570)gaG>gaA	p.E190E	LMOD1_uc021phm.1_Silent_p.E190E|LMOD1_uc010ppu.2_Silent_p.E139E	NM_012134	NP_036266	P29536	LMOD1_HUMAN	Homo sapiens leiomodin 1 (smooth muscle) (LMOD1), mRNA.	190	8 X approximate tandem repeats.				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						tccctttcttctcctcttcct	0.537000														10			4		0	0	0.009096	0	0
GRM3	2913	broad.mit.edu	37	7	86468884	86468884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:86468884C>T	uc003uid.3	+	3	3153	c.2054C>T	c.(2053-2055)cCc>cTc	p.P685L	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.P557L|GRM3_uc010leh.3_Missense_Mutation_p.P277L	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	685					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TTCATCAGCCCCAGTTCTCAG	0.537000														54			27		0	0	0.008361	0	0
GUCY2C	2984	broad.mit.edu	37	12	14809543	14809543	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:14809543C>T	uc001rcd.3	-	11	1510	c.1373G>A	c.(1372-1374)aGa>aAa	p.R458K		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	458					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						ATAATCTTTTCTATATTTTCT	0.368000														49			39		0	0	0.005524	0	0
TCRA	0	broad.mit.edu	37	14	22363157	22363157	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:22363157G>A	uc021rpj.1	+	1	459	c.288G>A	c.(286-288)acG>acA	p.T96T	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron					RecName: Full=T-cell receptor alpha chain V region PY14; Flags: Precursor;																		TCCACCTGACGAAACCCTCAG	0.507000														49			29		0	0	0.012213	0	0
TMC7	79905	broad.mit.edu	37	16	19020543	19020543	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:19020543C>T	uc002dfp.2	+	1	247	c.117C>T	c.(115-117)ttC>ttT	p.F39F	TMC7_uc010vao.1_Silent_p.F39F|TMC7_uc002dfq.3_Silent_p.F39F|TMC7_uc010vap.2_5'UTR	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	39						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CTGTGAACTTCCTCCAAGAAT	0.478000														34			43		0	0	0.008740	0	0
SYS1	90196	broad.mit.edu	37	20	43995745	43995745	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:43995745C>T	uc021weh.1	+	4	704	c.461C>T	c.(460-462)tCc>tTc	p.S154F	SYS1_uc002xnv.3_Missense_Mutation_p.S154F|SYS1_uc002xnw.2_Intron|SYS1_uc010gha.3_Non-coding_Transcript|DBNDD2_uc002xnx.3_Intron	NM_001197129	NP_001184058	Q8N2H4	SYS1_HUMAN	Homo sapiens SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae) (SYS1), transcript variant 3, mRNA.	154					protein transport	Golgi membrane|integral to membrane				cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GCCCCTAAATCCAATGTCTAG	0.567000														57			26		0	0	0.005443	0	0
FLNC	2318	broad.mit.edu	37	7	128475585	128475585	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:128475585G>A	uc003vnz.4	+	1	767	c.558G>A	c.(556-558)caG>caA	p.Q186Q	FLNC_uc003voa.4_Silent_p.Q186Q	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	186	Actin-binding.|CH 2.				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						GTGACTGGCAGGACGGCAAAG	0.627000														37			20		0	0	0.010504	0	0
KCNC4	3749	broad.mit.edu	37	1	110768888	110768888	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:110768888C>T	uc009wfr.3	+	2	2693	c.1907C>T	c.(1906-1908)cCc>cTc	p.P636L	KCNC4_uc001dzh.3_Intron|KCNC4_uc001dzi.3_Intron|KCNC4_uc001dzg.3_Intron	NM_001039574	NP_001034663	Q03721	KCNC4_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA.	0					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		TCCCCCCCTCCCCTGAGACCG	0.602000														0			5		0	0	0.000602	0	0
AKR1D1	6718	broad.mit.edu	37	7	137791374	137791374	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:137791374C>T	uc003vtz.3	+	5	687	c.600C>T	c.(598-600)ttC>ttT	p.F200F	AKR1D1_uc011kqf.2_Silent_p.F159F|AKR1D1_uc011kqe.1_Silent_p.F200F|AKR1D1_uc010lmy.1_Non-coding_Transcript	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	200					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						ATCCGTATTTCACCCAGCCAA	0.403000														46			16		0	0	0.007413	0	0
MUC16	94025	broad.mit.edu	37	19	9066175	9066175	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9066175C>T	uc002mkp.3	-	2	21475	c.21271G>A	c.(21271-21273)Gaa>Aaa	p.E7091K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7093	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L7090V(1)		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						CTGGGATTTTCCAGAGAGGGA	0.502000														42			21		0	0	0.010504	0	0
PRKDC	5591	broad.mit.edu	37	8	48746891	48746891	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:48746891G>A	uc003xqi.3	-	59	8072	c.8015C>T	c.(8014-8016)cCc>cTc	p.P2672L	PRKDC_uc003xqj.3_Missense_Mutation_p.P2672L	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2673	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GTCAGATGAGGGACTGGTGTG	0.537000								Non-homologous end-joining						121			72		0	0	0.014410	0	0
CSMD3	114788	broad.mit.edu	37	8	113347561	113347561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:113347561G>A	uc003ynu.3	-	44	7321	c.7162C>T	c.(7162-7164)Cac>Tac	p.H2388Y	CSMD3_uc003yns.3_Missense_Mutation_p.H1590Y|CSMD3_uc003ynt.3_Missense_Mutation_p.H2348Y|CSMD3_uc011lhx.2_Missense_Mutation_p.H2284Y|CSMD3_uc003ynw.1_Missense_Mutation_p.H99Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2388	CUB 13.					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						TACCAACCGTGATAACTGAGC	0.338000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				27			11		0	0	0.013537	0	0
HTRA4	203100	broad.mit.edu	37	8	38839222	38839222	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:38839222C>T	uc003xmj.3	+	5	1165	c.1050C>T	c.(1048-1050)tcC>tcT	p.S350S		NM_153692	NP_710159	P83105	HTRA4_HUMAN	Homo sapiens HtrA serine peptidase 4 (HTRA4), mRNA.	350	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)			ATGGAATCTCCTTTGCAATTC	0.428000														84			36		0	0	0.005524	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21794020	21794020	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:21794020G>A	uc001wag.3	+	15	2398	c.2398G>A	c.(2398-2400)Gag>Aag	p.E800K	RPGRIP1_uc001wah.3_Missense_Mutation_p.E442K|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001wak.3_Missense_Mutation_p.E275K|RPGRIP1_uc010aim.3_Missense_Mutation_p.E183K|RPGRIP1_uc001wal.3_Missense_Mutation_p.E159K|RPGRIP1_uc001wam.3_Missense_Mutation_p.E117K	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	800					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		ACCTCAGAACGAGCTGTGGAT	0.502000														22			10		0	0	0.006214	0	0
TNFRSF4	7293	broad.mit.edu	37	1	1147087	1147087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:1147087G>A	uc001adf.3	-	4	1370	c.772C>T	c.(772-774)Cct>Tct	p.P258S	TNFRSF4_uc001ade.3_Missense_Mutation_p.P254S			P43489	TNR4_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 4 (TNFRSF4), mRNA.	253					T cell proliferation|immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACTCACCAGGGGGCTTGTGG	0.697000														11			8		0	0	0.003080	0	0
ERBB4	2066	broad.mit.edu	37	2	212248412	212248412	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:212248412G>A	uc002veg.1	-	27	3953	c.3855C>T	c.(3853-3855)ctC>ctT	p.L1285L	ERBB4_uc002veh.1_Silent_p.L1269L|ERBB4_uc010zji.1_Silent_p.L1275L|ERBB4_uc010zjj.1_Silent_p.L1259L	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.	1285					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)		AGAACTCAGAGAGGTATTCAG	0.502000										TSP Lung(8;0.080)				38			29		0	0	0.008361	0	0
PLS3	5358	broad.mit.edu	37	X	114864164	114864164	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:114864164T>A	uc004eqe.3	+	4	519	c.385T>A	c.(385-387)Ttt>Att	p.F129I	PLS3_uc010nqf.3_Non-coding_Transcript|PLS3_uc010nqg.3_Intron|PLS3_uc004eqd.3_Missense_Mutation_p.F129I|PLS3_uc011mtf.2_Missense_Mutation_p.F107I|PLS3_uc011mth.2_Missense_Mutation_p.F84I|PLS3_uc011mtg.2_Missense_Mutation_p.F102I	NM_001136025	NP_005023	P13797	PLST_HUMAN	Homo sapiens plastin 3 (PLS3), transcript variant 2, mRNA.	129	Actin-binding 1.|CH 1.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						AAAATATGCTTTTGTTAACTG	0.318000														32			77		0	0	0.014410	0	0
UNC93A	54346	broad.mit.edu	37	6	167711546	167711546	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:167711546G>A	uc003qvq.3	+	3	788	c.613G>A	c.(613-615)Ggc>Agc	p.G205S	UNC93A_uc003qvr.3_Intron	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	205						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CACCCTCCTGGGCATCTACAC	0.617000														44			29		0	0	0.012213	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74492517	74492517	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:74492517G>A	uc001dfy.4	-	7	2047	c.1855C>T	c.(1855-1857)Ccc>Tcc	p.P619S	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	619								p.P619H(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AGTCCATTGGGAACTTTAAAG	0.289000														40			22		0	0	0.005443	0	0
VCAN	1462	broad.mit.edu	37	5	82815659	82815659	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:82815659G>A	uc003kii.3	+	6	1890	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.E512K|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	512	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TCCTTCCAAGGAATTCCCTGT	0.378000														58			37		0	0	0.004878	0	0
NT5C3	51251	broad.mit.edu	37	7	33102236	33102236	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:33102236G>T	uc003tdk.3	-	0	174	c.97C>A	c.(97-99)Cag>Aag	p.Q33K	NT5C3_uc003tdj.3_5'UTR|DQ584906_uc022abp.1_5'Flank	NM_001002010	NP_001159590	Q9H0P0	5NT3_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic III (NT5C3), transcript variant 1, mRNA.	33					nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol|endoplasmic reticulum	2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14			GBM - Glioblastoma multiforme(11;0.0894)			AATATGTACTGAGCCAGCACC	0.697000														9			7		8.12818e-05	8.94798e-05	0.001984	1	0
PTPRD	5789	broad.mit.edu	37	9	8389246	8389246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:8389246C>T	uc003zkk.3	-	36	5115	c.4372G>A	c.(4372-4374)Gaa>Aaa	p.E1458K	PTPRD_uc003zkp.3_Missense_Mutation_p.E1052K|PTPRD_uc003zkq.3_Missense_Mutation_p.E1051K|PTPRD_uc003zkr.3_Missense_Mutation_p.E1042K|PTPRD_uc003zks.3_Missense_Mutation_p.E1051K|PTPRD_uc022bdj.1_Missense_Mutation_p.E1048K	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1458	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GATCTTTCTTCTAGTTTTGTC	0.388000										TSP Lung(15;0.13)				25			45		0	0	0.014410	0	0
HYDIN	54768	broad.mit.edu	37	16	70989284	70989284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:70989284C>T	uc002ezr.3	-	39	6458	c.6307G>A	c.(6307-6309)Gag>Aag	p.E2103K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2104										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)				TTACCAGCCTCCTCTCCTTCC	0.577000														51			8		0	0	0.008291	0	0
SEMA3F	6405	broad.mit.edu	37	3	50211681	50211681	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:50211681C>T	uc003cyj.3	+	4	552	c.354C>T	c.(352-354)ttC>ttT	p.F118F	SEMA3F_uc003cyk.3_Silent_p.F118F	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	118	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)		GTGGGAACTTCGTCAGGCTCA	0.647000														55			9		0	0	0.006214	0	0
DAB1	1600	broad.mit.edu	37	1	57476449	57476449	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:57476449C>T	uc009vzx.1	-	13	1907	c.1587G>A	c.(1585-1587)caG>caA	p.Q529Q	DAB1_uc001cyt.1_Silent_p.Q527Q|DAB1_uc001cyq.1_Silent_p.Q527Q|DAB1_uc001cyr.1_Silent_p.Q443Q|DAB1_uc009vzw.1_Silent_p.Q511Q|DAB1_uc001cys.1_Silent_p.Q529Q	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	562					cell differentiation|nervous system development			p.Q529H(2)|p.Q529Q(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGGATGAGGCCTGTGATCCAT	0.443000														74			37		0	0	0.005524	0	0
SLC27A6	28965	broad.mit.edu	37	5	128351643	128351643	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:128351643G>A	uc003kuy.3	+	5	1431	c.1035G>A	c.(1033-1035)tgG>tgA	p.W345*	SLC27A6_uc003kuz.3_Nonsense_Mutation_p.W345*	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	345					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GTGATGTATGGAGAGAATTTT	0.368000														64			18		0	0	0.006122	0	0
ZFPM2	23414	broad.mit.edu	37	8	106646513	106646513	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:106646513C>T	uc003ymd.3	+	4	483	c.460C>T	c.(460-462)Ccc>Tcc	p.P154S		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	154					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)			GACTGCTGGTCCCAAGTGGTT	0.423000														20			5		0	0	0.001168	0	0
GMDS	2762	broad.mit.edu	37	6	1961196	1961196	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:1961196G>A	uc003mtq.3	-	4	562	c.350C>T	c.(349-351)tCc>tTc	p.S117F	GMDS_uc021ykn.1_Missense_Mutation_p.S87F	NM_001500	NP_001491	O60547	GMDS_HUMAN	Homo sapiens GDP-mannose 4,6-dehydratase (GMDS), transcript variant 1, mRNA.	117					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		GDP-mannose 4,6-dehydratase activity|coenzyme binding		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		GAGGTCAAAGGAAATCTGGAA	0.468000														15			10		0	0	0.006214	0	0
PAQR5	54852	broad.mit.edu	37	15	69692348	69692348	+	Silent	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:69692348A>G	uc002arz.2	+	7	1023	c.645A>G	c.(643-645)gaA>gaG	p.E215E	PAQR5_uc002asa.2_Silent_p.E215E	NM_017705	NP_060175	Q9NXK6	MPRG_HUMAN	Homo sapiens progestin and adipoQ receptor family member V (PAQR5), transcript variant 2, mRNA.	215					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						CACAAAATGAAGCCACCTCGT	0.532000														69			32		0	0	0.003271	0	0
GK2	2712	broad.mit.edu	37	4	80328648	80328648	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:80328648G>A	uc003hlu.3	-	0	725	c.707C>T	c.(706-708)tCt>tTt	p.S236F		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	236					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GATCTCAGAAGAACTGAAGAC	0.413000														62			30		0	0	0.009535	0	0
RPL10L	140801	broad.mit.edu	37	14	47120662	47120662	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:47120662G>A	uc001wwg.3	-	0	367	c.278C>T	c.(277-279)cCc>cTc	p.P93L		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	Homo sapiens ribosomal protein L10-like (RPL10L), mRNA.	93					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	p.H92N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						GACATGGAAGGGATGGAGCCG	0.537000														42			23		0	0	0.014323	0	0
OR9G4	283189	broad.mit.edu	37	11	56510593	56510593	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:56510593G>A	uc010rjo.2	-	0	695	c.695C>T	c.(694-696)tCc>tTc	p.S232F		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	232					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						GTTGACATAGGAAATCAGGAT	0.483000														50			42		0	0	0.010771	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811415	5811415	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:5811415T>A	uc010ndi.3	-	6	2469	c.2005A>T	c.(2005-2007)Ata>Tta	p.I669L	NLGN4X_uc004crp.3_Missense_Mutation_p.I652L|NLGN4X_uc010ndh.3_Missense_Mutation_p.I632L|NLGN4X_uc004crq.3_Missense_Mutation_p.I632L|NLGN4X_uc004crr.3_Missense_Mutation_p.I632L|NLGN4X_uc010ndj.3_Missense_Mutation_p.I632L	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	632					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTTGGCCATATCTTGGCGGGA	0.502000														53			29		0	0	0.003755	0	0
ARPP21	10777	broad.mit.edu	37	3	35781071	35781071	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:35781071T>C	uc011axy.2	+	16	2120	c.1908_splice	c.e16+2	p.Q636_splice	ARPP21_uc003cga.3_Splice_Site_p.Q616_splice|ARPP21_uc003cgb.3_Splice_Site_p.Q635_splice|ARPP21_uc003cgf.3_Splice_Site_p.Q471_splice|ARPP21_uc003cgg.3_Splice_Site_p.Q158_splice	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	635	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CCTGCACAGGTAGGTGTGCTT	0.527000														54			18		0	0	0.014323	0	0
TTC4	7268	broad.mit.edu	37	1	55207154	55207154	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:55207154C>T	uc001cxv.3	+	9	1297	c.1165C>T	c.(1165-1167)Ctc>Ttc	p.L389F	HEATR8_uc001cxq.3_Non-coding_Transcript|TTC4_uc001cxx.4_Missense_Mutation_p.L378F			O95801	TTC4_HUMAN	Homo sapiens tetratricopeptide repeat domain 4 (TTC4), mRNA.	378							binding			breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						CAAGAATTTTCTCCGGGGGAG	0.507000														83			52		0	0	0.014410	0	0
PRIM2	5558	broad.mit.edu	37	6	57512667	57512667	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:57512667G>A	uc003pdx.3	+	14	1579	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K		NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	499					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AATGGATATGGAAGGACTAGA	0.398000														483			38		0	0	0.014410	0	0
MAEA	10296	broad.mit.edu	37	4	1305894	1305894	+	Missense_Mutation	SNP	C	T	T	rs112596236		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:1305894C>T	uc003gda.3	+	1	227	c.197C>T	c.(196-198)tCc>tTc	p.S66F	MAEA_uc010ibs.1_Missense_Mutation_p.S66F|MAEA_uc003gdd.3_Non-coding_Transcript|MAEA_uc003gdb.3_Missense_Mutation_p.S66F|MAEA_uc011bvb.2_Missense_Mutation_p.S66F|MAEA_uc003gdc.3_Missense_Mutation_p.S66F|MAEA_uc011bvc.2_Missense_Mutation_p.S65F|MAEA_uc011bvd.2_Missense_Mutation_p.S18F	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	Homo sapiens macrophage erythroblast attacher (MAEA), transcript variant 1, mRNA.	66	Extracellular and involved in cell to cell contact.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			GCCGTGGACTCCGTGGTCAGC	0.647000														30			18		0	0	0.008871	0	0
SLC6A5	9152	broad.mit.edu	37	11	20673986	20673986	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:20673986C>T	uc001mqd.3	+	14	2495	c.2222C>T	c.(2221-2223)cCt>cTt	p.P741L	SLC6A5_uc009yic.3_Missense_Mutation_p.P506L	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	741					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P741A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CATCTGGCCCCTGGAAGATTT	0.443000														69			39		0	0	0.010771	0	0
LILRA1	11024	broad.mit.edu	37	19	55105938	55105938	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:55105938G>A	uc002qgh.1	+	2	249	c.67G>A	c.(67-69)Gca>Aca	p.A23T	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.A23T	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	23					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)		CCACGTGCAGGCAGGTGAGTC	0.652000														65			26		0	0	0.010818	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396091	38396091	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:38396091C>T	uc022bgy.1	+	0	346	c.346C>T	c.(346-348)Cga>Tga	p.R116*	ALDH1B1_uc004aay.3_Nonsense_Mutation_p.R116*	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	116					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GGAGCGGGATCGAGTCTACTT	0.607000														70			21		0	0	0.002780	0	0
SDF2L1	23753	broad.mit.edu	37	22	21998284	21998284	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:21998284C>T	uc002zvf.3	+	2	570	c.486C>T	c.(484-486)ttC>ttT	p.F162F		NM_022044	NP_071327	Q9HCN8	SDF2L_HUMAN	Homo sapiens stromal cell-derived factor 2-like 1 (SDF2L1), mRNA.	162	MIR 3.			F -> L (in Ref. 1; BAB18277).		endoplasmic reticulum lumen|membrane				prostate(1)	1	Colorectal(54;0.105)					CTGTGCGCTTCCAGCATGTGG	0.627000											OREG0026342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		23			8		0	0	0.003080	0	0
POTEC	388468	broad.mit.edu	37	18	14542758	14542758	+	Missense_Mutation	SNP	C	T	T	rs145930826		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:14542758C>T	uc010dln.3	-	0	842	c.388G>A	c.(388-390)Gag>Aag	p.E130K	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	130								p.E130K(4)|p.M129I(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TACCTCGGCTCCATGAAGGCG	0.607000														104			5		0	0	0.003080	0	0
AK096395	0	broad.mit.edu	37	12	6692109	6692109	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:6692109G>A	uc001qpq.1	+	1	400	c.312G>A	c.(310-312)aaG>aaA	p.K104K	CHD4_uc001qpn.3_Intron|CHD4_uc001qpo.3_Intron|CHD4_uc001qpp.3_Intron|SCARNA11_uc001qpr.1_5'Flank					Homo sapiens cDNA FLJ39076 fis, clone NT2RP7017567.																		GGAGCTGCAAGAAGAAAAAGA	0.448000														73			46		0	0	0.010771	0	0
SAMD4A	23034	broad.mit.edu	37	14	55226996	55226996	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:55226996C>T	uc001xbb.3	+	5	1599	c.1291C>T	c.(1291-1293)Ccc>Tcc	p.P431S	SAMD4A_uc001xbc.3_Missense_Mutation_p.P344S|SAMD4A_uc001xbg.2_Missense_Mutation_p.P23S	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	Homo sapiens sterile alpha motif domain containing 4A (SAMD4A), transcript variant 1, mRNA.	432					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CCGCCGGGAGCCCCAGGCCCC	0.716000														40			24		0	0	0.002780	0	0
LPXN	9404	broad.mit.edu	37	11	58338113	58338113	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:58338113G>A	uc001nmw.3	-	1	232	c.87C>T	c.(85-87)ccC>ccT	p.P29P	LPXN_uc009ymp.3_5'UTR|LPXN_uc010rkj.2_Silent_p.P34P|LPXN_uc010rkk.2_Missense_Mutation_p.P25L	NM_004811	NP_004802	O60711	LPXN_HUMAN	Homo sapiens leupaxin (LPXN), transcript variant 2, mRNA.	29					cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GCTGATCCAGGGGAAGAGGAG	0.443000														46			17		0	0	0.004990	0	0
ITGB8	3696	broad.mit.edu	37	7	20445782	20445782	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:20445782G>A	uc003suu.3	+	11	2716	c.2011G>A	c.(2011-2013)Gac>Aac	p.D671N	ITGB8_uc011jyh.2_Missense_Mutation_p.D536N	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	671					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						GCATTATGTCGACCAAACTTC	0.423000														29			18		0	0	0.006122	0	0
RSPH4A	345895	broad.mit.edu	37	6	116938244	116938244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:116938244C>T	uc003pxe.2	+	0	603	c.458C>T	c.(457-459)tCt>tTt	p.S153F	RSPH4A_uc010kee.2_Missense_Mutation_p.S153F	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	Homo sapiens radial spoke head 4 homolog A (Chlamydomonas) (RSPH4A), transcript variant 1, mRNA.	153					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTTCAACAGTCTCAGCAACCC	0.458000									Kartagener syndrome					89			56		0	0	0.014410	0	0
CFB	629	broad.mit.edu	37	6	31915744	31915744	+	Silent	SNP	C	T	T	rs113410938		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:31915744C>T	uc003nyj.4	+	5	1061	c.783C>T	c.(781-783)atC>atT	p.I261I	CFB_uc011dor.2_Silent_p.I763I|CFB_uc003nyi.2_Silent_p.I261I	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	261					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AGCGGAAGATCGTCCTGGACC	0.542000														214			107		0	0	0.014410	0	0
SERPINA3	12	broad.mit.edu	37	14	95081262	95081262	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:95081262G>A	uc001ydp.3	+	1	643	c.484G>A	c.(484-486)Ggc>Agc	p.G162S	SERPINA3_uc001ydo.4_Missense_Mutation_p.G187S|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.G162S|SERPINA3_uc001yds.3_Missense_Mutation_p.G162S	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	162					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GAGGCTGTATGGCTCCGAGGC	0.512000														29			18		0	0	0.007413	0	0
TATDN2	9797	broad.mit.edu	37	3	10320092	10320092	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:10320092C>T	uc011atr.2	+	5	2672	c.2091C>T	c.(2089-2091)atC>atT	p.I697I	TATDN2_uc003bvg.2_Silent_p.I697I|TATDN2_uc003bvf.3_Silent_p.I697I|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript|TATDN2_uc011atu.1_5'Flank|TATDN2_uc011atv.1_5'Flank|TATDN2_uc011atw.1_5'Flank|TATDN2_uc011auf.2_5'Flank|TATDN2_uc011aug.2_5'Flank|TATDN2_uc011atx.2_5'Flank|TATDN2_uc011aty.2_5'Flank|TATDN2_uc011atz.2_5'Flank|TATDN2_uc011aua.2_5'Flank|TATDN2_uc010hdl.3_5'Flank|TATDN2_uc011aub.2_5'Flank|TATDN2_uc010hdm.3_5'Flank|TATDN2_uc011auc.2_5'Flank|TATDN2_uc011aud.2_5'Flank|TATDN2_uc011aue.2_5'Flank	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	697						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						TGAGGCAGATCCCACTGGAGA	0.592000														176			85		0	0	0.014410	0	0
DSG1	1828	broad.mit.edu	37	18	28916386	28916386	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:28916386C>T	uc002kwp.3	+	8	1287	c.1075C>T	c.(1075-1077)Cat>Tat	p.H359Y		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	359	Cadherin 3.				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)			TGAATTTCATCATTCAATTAT	0.343000														28			9		0	0	0.004482	0	0
PRDM9	56979	broad.mit.edu	37	5	23527010	23527010	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:23527010G>A	uc003jgo.3	+	10	1995	c.1813G>A	c.(1813-1815)Gag>Aag	p.E605K		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	605					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						ACACACAGGGGAGAAGCCCTA	0.602000										HNSCC(3;0.000094)				66			38		0	0	0.014410	0	0
DOCK5	80005	broad.mit.edu	37	8	25156535	25156535	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:25156535T>C	uc003xeg.3	+	7	819	c.682T>C	c.(682-684)Ttc>Ctc	p.F228L	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_5'UTR|DOCK5_uc003xef.3_Missense_Mutation_p.F228L	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	228						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CTATGTGAACTTCAAGAACTT	0.488000														26			5		0	0	0.000602	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140795153	140795153	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140795153C>T	uc003lkl.2	+	0	2411	c.2411C>T	c.(2410-2412)cCt>cTt	p.P804L	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_Missense_Mutation_p.P804L|PCDHGC5_uc003lkm.3_5'Flank|PCDHGC5_uc003lkn.2_5'Flank	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	810					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)			TCGAAGTTTCCTATAGAGGAT	0.393000														33			7		0	0	0.001984	0	0
ALMS1	7840	broad.mit.edu	37	2	73761968	73761968	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:73761968C>T	uc002sje.1	+	11	9907	c.9796C>T	c.(9796-9798)Cca>Tca	p.P3266S	ALMS1_uc002sjf.1_Missense_Mutation_p.P3224S|ALMS1_uc002sjg.3_Missense_Mutation_p.P2654S|ALMS1_uc002sjh.1_Missense_Mutation_p.P2654S|ALMS1_uc010fev.1_Missense_Mutation_p.P83S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	3266					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTTATTATTGCCATATAAGCC	0.348000														70			38		0	0	0.006999	0	0
TCRB	0	broad.mit.edu	37	7	142119848	142119848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:142119848C>T	uc022anf.1	-	1	363	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022ane.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		CGATACATGGCTGAGTCCCGC	0.562000														44			26		0	0	0.007291	0	0
DCD	117159	broad.mit.edu	37	12	55039462	55039462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:55039462C>T	uc001sgj.3	-	2	189	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	DCD_uc009znt.3_Missense_Mutation_p.E43K|DCD_uc009znu.3_Non-coding_Transcript	NM_053283	NP_444513	P81605	DCD_HUMAN	Homo sapiens dermcidin (DCD), mRNA.	43					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding	p.E43K(2)		large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				CCTGCATTTTCCTTTTGAGCT	0.517000														77			40		0	0	0.014410	0	0
KCNK18	338567	broad.mit.edu	37	10	118969163	118969163	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:118969163C>T	uc010qsr.2	+	2	508	c.508C>T	c.(508-510)Cct>Tct	p.P170S		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	170						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCGAAAATTCCCTTTCTTTAC	0.507000														66			58		0	0	0.014410	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050393	42050393	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:42050393C>T	uc001cgz.4	-	3	1289	c.76G>A	c.(76-78)Gcc>Acc	p.A26T	HIVEP3_uc001cha.4_Missense_Mutation_p.A26T|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.	26					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)				GTCTGAATGGCCTCTCCTTTG	0.582000														192			31		0	0	0.009535	0	0
MYOCD	93649	broad.mit.edu	37	17	12661460	12661460	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:12661460C>T	uc002gno.2	+	11	2560	c.2261C>T	c.(2260-2262)aCt>aTt	p.T754I	MYOCD_uc002gnn.2_Missense_Mutation_p.T706I|MYOCD_uc002gnp.1_Missense_Mutation_p.T658I|MYOCD_uc002gnq.2_Intron	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	706					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCATCCCCAACTTTTTCTAAG	0.403000														23			27		0	0	0.004656	0	0
FREM2	341640	broad.mit.edu	37	13	39454666	39454666	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:39454666G>A	uc001uwv.3	+	23	9561	c.9252G>A	c.(9250-9252)aaG>aaA	p.K3084K		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	3084					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)		ACCGCACCAAGAGGCAGATCC	0.587000														38			17		0	0	0.010504	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66989064	66989064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:66989064G>A	uc003xvs.1	+	3	580	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	DNAJC5B_uc003xvt.1_Non-coding_Transcript	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA.	97					protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			GTTTGGAGACGAAAACGTTAA	0.448000														81			33		0	0	0.003271	0	0
MSR1	4481	broad.mit.edu	37	8	16026357	16026357	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:16026357C>T	uc010lsu.3	-	3	358	c.294G>A	c.(292-294)acG>acA	p.T98T	MSR1_uc003wwz.3_Silent_p.T80T|MSR1_uc003wxa.3_Silent_p.T80T|MSR1_uc003wxb.3_Silent_p.T80T|MSR1_uc011kxz.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	80	Spacer (Probable).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AGCAATTCTTCGTTTCCCACT	0.383000														60			28		0	0	0.009535	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911331	230911331	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:230911331C>T	uc002vqd.2	-	3	970	c.511G>A	c.(511-513)Ggt>Agt	p.G171S	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Missense_Mutation_p.G171S|SLC16A14_uc002vqf.3_Missense_Mutation_p.G171S	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	171						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		AGGAACGTACCGAATCCGGTC	0.597000														38			29		0	0	0.003271	0	0
DMBT1	1755	broad.mit.edu	37	10	124339103	124339103	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:124339103C>T	uc001lgk.1	+	9	795	c.689C>T	c.(688-690)tCc>tTc	p.S230F	DMBT1_uc001lgl.1_Missense_Mutation_p.S230F|DMBT1_uc001lgm.1_Missense_Mutation_p.S230F|DMBT1_uc021qaf.1_Missense_Mutation_p.S230F|DMBT1_uc021qag.1_Missense_Mutation_p.S230F|DMBT1_uc021qah.1_Missense_Mutation_p.S230F|DMBT1_uc009xzz.1_Missense_Mutation_p.S230F|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.S82F	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	230					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGATCTGAATCCAGTTTGGCC	0.532000														285			80		0	0	0.014410	0	0
CPA3	1359	broad.mit.edu	37	3	148596253	148596253	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:148596253G>A	uc003ewm.3	+	3	347	c.295G>A	c.(295-297)Gag>Aag	p.E99K		NM_001870	NP_001861	P15088	CBPA3_HUMAN	Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA.	99					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TCTACAAGAAGAGATTGAGAA	0.343000														29			25		0	0	0.008361	0	0
P4HA1	5033	broad.mit.edu	37	10	74806829	74806829	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:74806829G>A	uc021ptk.1	-	6	963	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C	P4HA1_uc010qka.2_Missense_Mutation_p.R311C|P4HA1_uc001jth.3_Missense_Mutation_p.R311C|P4HA1_uc001jtg.3_Missense_Mutation_p.R311C|P4HA1_uc010qkb.2_Missense_Mutation_p.R311C|P4HA1_uc021ptj.1_Missense_Mutation_p.R311C	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide I (P4HA1), transcript variant 3, mRNA.	311						endoplasmic reticulum lumen|mitochondrion	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCATGGTAGCGGCAAAAGAGT	0.353000														24			19		0	0	0.008871	0	0
CCR5	1234	broad.mit.edu	37	3	46414449	46414449	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:46414449C>G	uc003cpo.4	+	2	178	c.56C>G	c.(55-57)cCc>cGc	p.P19R	CCR5_uc010hjd.3_Missense_Mutation_p.P19R|CCR5_uc021wxb.1_Missense_Mutation_p.P19R	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	19					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)	ACATCGGAGCCCTGCCAAAAA	0.423000														128			83		0	0	0.014410	0	0
ZNF516	9658	broad.mit.edu	37	18	74153874	74153874	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:74153874G>A	uc021ulp.1	-	2	1455	c.1137C>T	c.(1135-1137)acC>acT	p.T379T		NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AGAACTGCTTGGTGTCCGAGG	0.726000														5			4		0	0	0.009096	0	0
BAI2	576	broad.mit.edu	37	1	32196635	32196635	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:32196635G>A	uc001btn.3	-	28	4500	c.4146C>T	c.(4144-4146)ccC>ccT	p.P1382P	BAI2_uc010ogn.2_Silent_p.P352P|BAI2_uc010ogo.2_Silent_p.P991P|BAI2_uc010ogp.2_Silent_p.P1315P|BAI2_uc010ogq.2_Silent_p.P1349P|BAI2_uc001bto.3_Silent_p.P1382P|BAI2_uc001btp.1_Silent_p.P376P	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	1382					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CAGCTCGCCGGGGGGTCCCCT	0.701000														13			7		0	0	0.003080	0	0
HELQ	113510	broad.mit.edu	37	4	84339276	84339276	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:84339276G>A	uc003hom.3	-	15	3212	c.3033C>T	c.(3031-3033)atC>atT	p.I1011I	HELQ_uc010ikb.3_Silent_p.I944I|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	Homo sapiens helicase, POLQ-like (HELQ), mRNA.	1011							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CCATGAGAGGGATTAATTCTG	0.378000								Other identified genes with known or suspected DNA repair function						159			75		0	0	0.014410	0	0
DPRX	503834	broad.mit.edu	37	19	54137909	54137909	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:54137909G>A	uc002qcf.1	+	1	204	c.153G>A	c.(151-153)tcG>tcA	p.S51S		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	Homo sapiens divergent-paired related homeobox (DPRX), mRNA.	51						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		AAATGGCCTCGAAAATAGACA	0.433000														59			15		0	0	0.003163	0	0
OR52B4	143496	broad.mit.edu	37	11	4389234	4389234	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:4389234G>A	uc010qye.2	-	0	383	c.292C>T	c.(292-294)Cgt>Tgt	p.R98C		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGATGCAACGATCCAGGGAG	0.527000														48			11		0	0	0.001855	0	0
NEBL	10529	broad.mit.edu	37	10	21101729	21101729	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:21101729C>T	uc001iqi.3	-	23	2884	c.2487G>A	c.(2485-2487)gtG>gtA	p.V829V	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Silent_p.V166V|NEBL_uc021pnu.1_Silent_p.V166V	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	829					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						TGTCCATCTCCACGATGTGAG	0.532000														32			20		0	0	0.010504	0	0
ZNF497	162968	broad.mit.edu	37	19	58867538	58867538	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:58867538G>A	uc002qsh.2	-	2	1747	c.1464C>T	c.(1462-1464)caC>caT	p.H488H	A1BG_uc002qsd.4_5'Flank|A1BG_uc002qsf.2_Intron|ZNF497_uc002qsi.2_Silent_p.H488H|ZNF497_uc021vcw.1_Silent_p.H488H|BC023201_uc002qsj.1_5'Flank|BC023201_uc002qsk.1_5'Flank	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN	Homo sapiens zinc finger protein 497 (ZNF497), mRNA.	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GCCGCTTCTGGTGCTCGTTGA	0.706000														22			7		0	0	0.006214	0	0
OR5R1	219479	broad.mit.edu	37	11	56184863	56184863	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:56184863G>A	uc010rji.2	-	0	846	c.846C>T	c.(844-846)atC>atT	p.I282I	OR8U8_uc001nit.2_Intron	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V281V(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TTAACATGGGGATCACCACTG	0.383000														46			37		0	0	0.005524	0	0
KIF5A	3798	broad.mit.edu	37	12	57971793	57971793	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:57971793C>T	uc001sor.1	+	22	2570	c.2362_splice	c.e22-1	p.A788_splice	KIF5A_uc010srr.1_Splice_Site_p.A699_splice	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	788					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TCTTTCCAGGCCCGGGAACTC	0.483000														57			22		0	0	0.002780	0	0
DARC	2532	broad.mit.edu	37	1	159176032	159176032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:159176032C>T	uc001ftp.4	+	0	984	c.809C>T	c.(808-810)tCc>tTc	p.S270F	DARC_uc001fto.3_Missense_Mutation_p.S268F	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA.	268					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CTGGTGAGGTCCAAGCTGTTG	0.567000														111			68		0	0	0.014410	0	0
RLN2	6019	broad.mit.edu	37	9	5300348	5300348	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:5300348G>A	uc003zja.1	-	1	308	c.308C>T	c.(307-309)tCt>tTt	p.S103F	RLN2_uc003ziz.1_3'UTR	NM_134441	NP_604390	P04090	REL2_HUMAN	Homo sapiens relaxin 2 (RLN2), transcript variant 1, mRNA.	103					female pregnancy	extracellular region	hormone activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		CTGCATCTCAGACAGGGTTAA	0.368000														32			34		0	0	0.013726	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756815	56756815	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:56756815C>T	uc010rjp.2	+	0	427	c.427C>T	c.(427-429)Cgt>Tgt	p.R143C		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	143					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						AGTCTGCATCCGTTTGGTAGC	0.443000														49			37		0	0	0.004878	0	0
THSD4	79875	broad.mit.edu	37	15	71433893	71433893	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:71433893C>T	uc002atb.1	+	0	106	c.27C>T	c.(25-27)ctC>ctT	p.L9L		NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	9						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGGGGTCTCTCAGGTAAGTGA	0.393000														21			7		0	0	0.004482	0	0
CSNK1G2	1455	broad.mit.edu	37	19	1978940	1978940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:1978940G>A	uc002lul.4	+	5	1052	c.530G>A	c.(529-531)gGg>gAg	p.G177E	CSNK1G2_uc010dsu.3_Missense_Mutation_p.G129E	NM_001319	NP_001310	P78368	KC1G2_HUMAN	Homo sapiens casein kinase 1, gamma 2 (CSNK1G2), mRNA.	177	Protein kinase.				Wnt receptor signaling pathway|sphingolipid metabolic process	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|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)		GGCCGCCCGGGGACCAAGCGG	0.627000														38			21		0	0	0.002780	0	0
LPHN3	23284	broad.mit.edu	37	4	62775413	62775413	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:62775413C>T	uc010ihh.3	+	8	1992	c.1819C>T	c.(1819-1821)Cgg>Tgg	p.R607W	LPHN3_uc003hcq.4_Missense_Mutation_p.R607W|LPHN3_uc003hct.3_Missense_Mutation_p.R13W|LPHN3_uc003hcs.1_Missense_Mutation_p.R436W	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	607					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.R607W(4)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGTACAGCTTCGGAACTTGAC	0.512000														8			3		0	0	0.004672	0	0
SNRPN	6638	broad.mit.edu	37	15	25222117	25222117	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:25222117C>T	uc021sgb.1	+	4	1412	c.370C>T	c.(370-372)Ccc>Tcc	p.P124S	SNRPN_uc001ywp.1_Missense_Mutation_p.P121S|SNRPN_uc001ywq.1_Missense_Mutation_p.P121S|SNRPN_uc001ywr.1_Missense_Mutation_p.P121S|SNRPN_uc001yws.1_Missense_Mutation_p.P121S|SNRPN_uc001ywt.1_Missense_Mutation_p.P121S|SNRPN_uc001ywy.1_Missense_Mutation_p.P121S|SNRPN_uc001ywz.1_Intron|SNRPN_uc001yxa.1_Intron|SNRPN_uc021sga.1_Missense_Mutation_p.P121S	NM_022808	NP_073719	P63162	RSMN_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide N (SNRPN), transcript variant 5, mRNA.	121					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TGTGCCAATTCCCCAGGCCCC	0.582000									Prader-Willi syndrome					51			34		0	0	0.013726	0	0
PRMT3	10196	broad.mit.edu	37	11	20424497	20424497	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:20424497C>T	uc001mqb.3	+	7	955	c.738C>T	c.(736-738)ttC>ttT	p.F246F	PRMT3_uc001mqc.3_Silent_p.F169F|PRMT3_uc010rdn.2_Silent_p.F184F	NM_005788	NP_005779	O60678	ANM3_HUMAN	Homo sapiens protein arginine methyltransferase 3 (PRMT3), transcript variant 1, mRNA.	246							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						ACCGAGATTTCATATACCAAA	0.353000														85			22		0	0	0.003954	0	0
OR51B5	282763	broad.mit.edu	37	11	5364700	5364701	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:5364700_5364701CC>TT	uc001map.1	-	0	54_55	c.54_55GG>AA	c.(52-57)ttggag>ttAAag	p.E19K	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.E19K	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAGCTTCCTCCAAGCCTGGAA	0.426000														33			20		0	0	0.004672	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42128408	42128408	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:42128408C>T	uc001zoo.4	+	4	632	c.592C>T	c.(592-594)Cat>Tat	p.H198Y	JMJD7-PLA2G4B_uc001zom.2_Missense_Mutation_p.H98Y|JMJD7-PLA2G4B_uc001zon.2_Missense_Mutation_p.H198Y|JMJD7-PLA2G4B_uc010bcn.3_Missense_Mutation_p.H198Y|JMJD7-PLA2G4B_uc001zop.1_Missense_Mutation_p.H98Y|JMJD7-PLA2G4B_uc001zoq.4_5'Flank|JMJD7-PLA2G4B_uc010bco.3_5'Flank	NM_005090	NP_005081	P0C869	PA24B_HUMAN	Homo sapiens JMJD7-PLA2G4B readthrough (JMJD7-PLA2G4B), transcript variant 1, mRNA.	0					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						TTTCCTGTTCCATCCGCCCAG	0.617000														43			22		0	0	0.003330	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855983	12855983	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:12855983C>T	uc001auj.2	+	3	1366	c.1263C>T	c.(1261-1263)tcC>tcT	p.S421S		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	421										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)		GTTTGAATTCCTTGGTTCGTG	0.552000														140			28		0	0	0.008740	0	0
TAAR2	9287	broad.mit.edu	37	6	132938780	132938780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:132938780C>T	uc003qdl.1	-	1	565	c.565G>A	c.(565-567)Gag>Aag	p.E189K	TAAR2_uc010kfr.1_Missense_Mutation_p.E144K	NM_001033080	NP_055441	Q9P1P5	TAAR2_HUMAN	Homo sapiens trace amine associated receptor 2 (TAAR2), transcript variant 1, mRNA.	189						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		TCATAGCCCTCTATTCCATCT	0.483000														32			26		0	0	0.007291	0	0
COL11A2	1302	broad.mit.edu	37	6	33157208	33157208	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:33157208G>A	uc003ocx.1	-	1	349	c.121C>T	c.(121-123)Ccc>Tcc	p.P41S	COL11A2_uc003ocy.1_Missense_Mutation_p.P41S|COL11A2_uc003ocz.1_Missense_Mutation_p.P41S|COL11A2_uc003oda.3_Missense_Mutation_p.P41S	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	41	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGAGGGAGGGGAACCTCAGG	0.617000														41			28		0	0	0.007291	0	0
TTN	7273	broad.mit.edu	37	2	179595817	179595817	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179595817C>G	uc021vsy.1	-	56	14068	c.13843G>C	c.(13843-13845)Gat>Cat	p.D4615H	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D1276H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5542	Ig-like 26.						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)			TCTTGGCCATCTTTAAACCAT	0.413000														67			34		0	0	0.012213	0	0
RGS18	64407	broad.mit.edu	37	1	192153614	192153614	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:192153614G>T	uc001gsg.3	+	4	814	c.638G>T	c.(637-639)aGg>aTg	p.R213M		NM_130782	NP_570138	Q9NS28	RGS18_HUMAN	Homo sapiens regulator of G-protein signaling 18 (RGS18), mRNA.	213					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACAAATCTTAGGAGACGATCA	0.363000														35			32		6.04164e-23	6.73775e-23	0.010818	1	0
PTPLAD1	51495	broad.mit.edu	37	15	65851053	65851053	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:65851053C>T	uc002apc.3	+	4	548	c.405C>T	c.(403-405)agC>agT	p.S135S	PTPLAD1_uc010uiw.2_Silent_p.S80S	NM_016395	NP_057479	Q9P035	HACD3_HUMAN	Homo sapiens protein tyrosine phosphatase-like A domain containing 1 (PTPLAD1), mRNA.	135					I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction|activation of JUN kinase activity|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						GACTGGAAAGCGAAGGCTCTC	0.428000														9			12		0	0	0.002450	0	0
MED15	51586	broad.mit.edu	37	22	20929471	20929471	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:20929471C>T	uc002zsp.3	+	8	1304	c.1224C>T	c.(1222-1224)tcC>tcT	p.S408S	MED15_uc002zsq.3_Intron|MED15_uc010gso.3_Intron|MED15_uc002zsr.3_Intron|MED15_uc011ahs.2_Intron|MED15_uc002zss.3_Intron|MED15_uc011ahu.2_Silent_p.S134S|MED15_uc002zst.3_Silent_p.S24S	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	408	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CCGCTGTGTCCGCCATCCCGT	0.627000														59			38		0	0	0.004878	0	0
XIRP2	129446	broad.mit.edu	37	2	168104646	168104646	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:168104646G>A	uc002udx.3	+	8	6833	c.6744G>A	c.(6742-6744)ttG>ttA	p.L2248L	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.L2073L|XIRP2_uc010fpq.3_Silent_p.L2026L|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2073					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						ATGTTCACTTGAAAAGCCAGG	0.368000														18			9		0	0	0.004482	0	0
ADH1B	125	broad.mit.edu	37	4	100234992	100234992	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:100234992G>A	uc003hus.4	-	5	898	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	ADH1B_uc003hut.4_Missense_Mutation_p.R232W|ADH1B_uc011ceh.2_Missense_Mutation_p.R117W|ADH1B_uc011cei.1_Missense_Mutation_p.R232W	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	272					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)	GTGTCAAGCCGACCGATGACT	0.423000														154			106		0	0	0.014410	0	0
KLHL1	57626	broad.mit.edu	37	13	70535554	70535554	+	Missense_Mutation	SNP	C	T	T	rs112767369		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:70535554C>T	uc001vip.3	-	2	1497	c.703G>A	c.(703-705)Gac>Aac	p.D235N	KLHL1_uc010thm.2_Missense_Mutation_p.D174N	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	235	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.S234S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GCAAAATAGTCGGAGACTGAA	0.448000														33			5		0	0	0.000602	0	0
MC2R	4158	broad.mit.edu	37	18	13885395	13885395	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:13885395C>T	uc002ksp.1	-	1	300	c.123G>A	c.(121-123)gaG>gaA	p.E41E	MC2R_uc021uhs.1_Silent_p.E41E	NM_000529	NP_000520	Q01718	ACTHR_HUMAN	Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	41					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CGATCAGATTCTCCAAAACTC	0.433000														24			12		0	0	0.001855	0	0
HTR1F	3355	broad.mit.edu	37	3	88040765	88040765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:88040765G>A	uc003dqr.2	+	1	1024	c.866G>A	c.(865-867)cGg>cAg	p.R289Q	HTR1F_uc021xbd.1_Missense_Mutation_p.R289Q	NM_000866	NP_000857	P30939	5HT1F_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1F (HTR1F), mRNA.	289					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	p.R289R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	ACAAGAGAACGGAAAGCAGCC	0.378000														21			20		0	0	0.003330	0	0
YME1L1	10730	broad.mit.edu	37	10	27425278	27425278	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:27425278G>A	uc001iti.3	-	5	848	c.638C>T	c.(637-639)tCa>tTa	p.S213L	YME1L1_uc001itj.3_Missense_Mutation_p.S156L|YME1L1_uc010qdl.2_Missense_Mutation_p.S123L	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	Homo sapiens YME1-like 1 (S. cerevisiae) (YME1L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	213					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TCGTGTCCTTGATTTCAAAGT	0.358000														32			19		0	0	0.010504	0	0
CD163L1	283316	broad.mit.edu	37	12	7586282	7586282	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:7586282C>T	uc010sge.2	-	2	159	c.133G>A	c.(133-135)Gat>Aat	p.D45N	CD163L1_uc001qsy.3_Missense_Mutation_p.D45N	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	45						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						AACTCCAAATCTGTTCCATCT	0.448000														51			37		0	0	0.004878	0	0
ZFP112	7771	broad.mit.edu	37	19	44832211	44832211	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:44832211G>A	uc010xwy.2	-	4	2286	c.2168C>T	c.(2167-2169)tCa>tTa	p.S723L	ZFP112_uc010ejj.3_Missense_Mutation_p.S706L|ZFP112_uc002ozc.4_Missense_Mutation_p.S700L|ZFP112_uc010xwz.2_Missense_Mutation_p.S705L	NM_013380	NP_037512	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 112 homolog (mouse) (ZFP112), transcript variant 2, mRNA.	706					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K722R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						CTGAAGGTATGATCTCTGACT	0.463000														52			26		0	0	0.003954	0	0
DPPA4	55211	broad.mit.edu	37	3	109047910	109047910	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:109047910C>T	uc003dxq.4	-	5	760	c.705G>A	c.(703-705)ggG>ggA	p.G235G	DPPA4_uc011bho.2_Missense_Mutation_p.E137K	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	235						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GGAGACTTTTCCCATGGACCA	0.522000														11			8		0	0	0.006214	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336690	30336690	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:30336690C>T	uc009xle.2	-	1	189	c.52G>A	c.(52-54)Gac>Aac	p.D18N	KIAA1462_uc001iux.3_Missense_Mutation_p.D18N|KIAA1462_uc001iuy.3_Missense_Mutation_p.D18N|KIAA1462_uc001iuz.3_5'UTR	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	18										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GCTGGGGGGTCTCTTGACAGC	0.597000														38			34		0	0	0.003271	0	0
TTN	7273	broad.mit.edu	37	2	179454575	179454575	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179454575C>T	uc021vsy.1	-	252	54398	c.54173G>A	c.(54172-54174)cGa>cAa	p.R18058Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R11753Q|TTN_uc021vta.1_Missense_Mutation_p.R11686Q|TTN_uc021vtb.1_Missense_Mutation_p.R11561Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18985	Fibronectin type-III 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R18056Q(1)|p.R11686Q(1)|p.R11753Q(1)|p.R11561Q(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)			CTTGATTAATCGTTTAGTGAC	0.398000														68			51		0	0	0.014410	0	0
MCHR2	84539	broad.mit.edu	37	6	100403862	100403862	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:100403862G>A	uc003pqh.1	-	1	477	c.162C>T	c.(160-162)ctC>ctT	p.L54L	MCHR2_uc003pqi.1_Silent_p.L54L	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	54						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L54F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TGAATACAATGAGGATGTTGC	0.388000														30			17		0	0	0.006122	0	0
SLC38A8	146167	broad.mit.edu	37	16	84067033	84067033	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:84067033G>A	uc002fhg.1	-	2	430	c.430C>T	c.(430-432)Ccg>Tcg	p.P144S		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	144					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCGTACCACGGCTGCGGGGCG	0.652000														47			11		0	0	0.010729	0	0
FAM113B	91523	broad.mit.edu	37	12	47629003	47629003	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:47629003G>A	uc001rpq.3	+	1	682	c.157G>A	c.(157-159)Gag>Aag	p.E53K	FAM113B_uc001rpn.3_Missense_Mutation_p.E53K|FAM113B_uc021qxi.1_Missense_Mutation_p.E53K	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	53							hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					AGCAAGGGGGGAGCTGAACTT	0.612000														35			15		0	0	0.003163	0	0
CDKAL1	54901	broad.mit.edu	37	6	21108659	21108659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:21108659C>T	uc003ndd.2	+	12	1431	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W	CDKAL1_uc003nde.2_Intron|CDKAL1_uc021ymk.1_Missense_Mutation_p.R422W|CDKAL1_uc003ndf.2_Missense_Mutation_p.R18W	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA.	422					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	p.R422L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			AGATCTTTCTCGGGTGTTTCA	0.294000														237			139		0	0	0.014410	0	0
RASSF9	9182	broad.mit.edu	37	12	86199585	86199585	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:86199585C>T	uc001taf.1	-	1	542	c.203G>A	c.(202-204)cGa>cAa	p.R68Q		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	68	Ras-associating.				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	p.R68*(1)		endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGAAGAAATCGTTTCTCTCC	0.483000														79			28		0	0	0.009535	0	0
GRPEL2	134266	broad.mit.edu	37	5	148727972	148727972	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:148727972A>T	uc003lqj.3	+	1	341	c.215A>T	c.(214-216)gAa>gTa	p.E72V	GRPEL2_uc011dca.2_Missense_Mutation_p.E72V	NM_152407	NP_689620	Q8TAA5	GRPE2_HUMAN	Homo sapiens GrpE-like 2, mitochondrial (E. coli) (GRPEL2), nuclear gene encoding mitochondrial protein, mRNA.	72					protein folding	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAGAAAGAAGTCCAAGAT	0.398000														24			26		0	0	0.003954	0	0
SRRT	51593	broad.mit.edu	37	7	100484522	100484522	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:100484522C>T	uc003uwy.2	+	13	2021	c.1754C>T	c.(1753-1755)cCt>cTt	p.P585L	SRRT_uc010lhl.1_Missense_Mutation_p.P584L|SRRT_uc003uxa.2_Missense_Mutation_p.P584L|SRRT_uc003uwz.2_Missense_Mutation_p.P585L	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	585					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.P584S(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GGCGCTCCTCCTGAGGAGCCT	0.617000														70			41		0	0	0.011902	0	0
SLC22A3	6581	broad.mit.edu	37	6	160829824	160829824	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:160829824G>A	uc003qti.3	+	3	755	c.728G>A	c.(727-729)gGa>gAa	p.G243E	SLC22A3_uc011efx.2_Non-coding_Transcript	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	243						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		AGGATTGTGGGAATCGTGATT	0.423000														29			16		0	0	0.004990	0	0
CCDC136	64753	broad.mit.edu	37	7	128455871	128455871	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:128455871G>A	uc003vnv.2	+	15	3665	c.3249G>A	c.(3247-3249)gaG>gaA	p.E1083E	CCDC136_uc003vnu.2_Intron|CCDC136_uc003vnx.2_Silent_p.E899E|CCDC136_uc010llq.2_Silent_p.E452E|CCDC136_uc003vny.2_Intron	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.	1083	Glu-rich.					integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						aaaatgaagaggacaaagagg	0.488000														8			9		0	0	0.006214	0	0
CD300LB	124599	broad.mit.edu	37	17	72522044	72522044	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:72522044C>T	uc002jkx.2	-	1	337	c.324G>A	c.(322-324)gaG>gaA	p.E108E	CD300LB_uc010wqz.1_Silent_p.E108E	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	Homo sapiens CD300 molecule-like family member b (CD300LB), mRNA.	71	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						GGTCACTCTTCTCTCCTTGCT	0.532000														99			71		0	0	0.014410	0	0
NRG1	3084	broad.mit.edu	37	8	31498200	31498200	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:31498200C>T	uc003xip.3	+	0	933	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	NRG1_uc022ats.1_Intron	NM_013962	NP_039256	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant GGF2, mRNA.	0					Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GGAGACGGGCCGGAACCTCAA	0.692000														10			13		0	0	0.001855	0	0
PSD	5662	broad.mit.edu	37	10	104173563	104173563	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:104173563C>T	uc001kvg.1	-	4	2043	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K	PSD_uc001kvh.1_Missense_Mutation_p.E127K|PSD_uc009xxd.1_Missense_Mutation_p.E506K	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	506					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGGCTGTCCTCTGAGTGGCAG	0.622000														24			21		0	0	0.014323	0	0
MYO5B	4645	broad.mit.edu	37	18	47428972	47428972	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:47428972C>T	uc002leb.2	-	20	3091	c.2803G>A	c.(2803-2805)Gat>Aat	p.D935N	MYO5B_uc002lea.2_Missense_Mutation_p.D76N	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	935					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ACCTGCTCATCGATCTTCCGC	0.582000														54			21		0	0	0.012319	0	0
ATP12A	479	broad.mit.edu	37	13	25283526	25283526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:25283526G>A	uc010aaa.3	+	17	2869	c.2536G>A	c.(2536-2538)Gag>Aag	p.E846K	ATP12A_uc001upp.3_Missense_Mutation_p.E840K	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	840					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)	CTTGGCGTACGAGAAAGCTGA	0.562000														63			15		0	0	0.008871	0	0
TAF1L	138474	broad.mit.edu	37	9	32634687	32634687	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:32634687C>T	uc003zrg.1	-	0	981	c.891G>A	c.(889-891)gtG>gtA	p.V297V	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	297					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity	p.V297L(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTGAGCATTCCACCTCCTGGA	0.498000														33			27		0	0	0.005443	0	0
CFH	3075	broad.mit.edu	37	1	196695903	196695904	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:196695903_196695904CC>TT	uc001gtj.4	+	13	2309_2310	c.2069_2070CC>TT	c.(2068-2070)acc>aTT	p.T690I	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	690	Sushi 12.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GAGGAGAGTACCTGTGGAGATA	0.337000														39			19		0	0	0.004672	0	0
OPRK1	4986	broad.mit.edu	37	8	54147566	54147566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:54147566C>T	uc003xrh.1	-	1	738	c.363G>A	c.(361-363)atG>atA	p.M121I	OPRK1_uc022aup.1_Missense_Mutation_p.M1I|OPRK1_uc003xri.1_Missense_Mutation_p.M121I|OPRK1_uc010lyc.1_Missense_Mutation_p.M32I	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	121					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)	GCCAGGAATTCATCAAGTAGA	0.423000														59			29		0	0	0.009535	0	0
MLL3	58508	broad.mit.edu	37	7	151945168	151945168	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:151945168G>A	uc003wla.3	-	13	2570	c.2351C>T	c.(2350-2352)tCc>tTc	p.S784F		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	784					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.S783S(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AGGTGTTGGGGAGGAAGACAC	0.428000			N		medulloblastoma									475			15		0	0	0.007413	0	0
STAT6	6778	broad.mit.edu	37	12	57499302	57499302	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:57499302C>T	uc009zpg.3	-	7	910	c.908G>A	c.(907-909)cGg>cAg	p.R303Q	STAT6_uc009zpe.3_Missense_Mutation_p.R254Q|STAT6_uc001sna.3_Missense_Mutation_p.R254Q|STAT6_uc009zpf.3_Missense_Mutation_p.R254Q|STAT6_uc010srb.2_Missense_Mutation_p.R144Q|STAT6_uc010src.2_Missense_Mutation_p.R144Q|STAT6_uc010srd.2_Missense_Mutation_p.R144Q	NM_001178081	NP_001171552	P42226	STAT6_HUMAN	Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.	254					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CAGCGATGCCCGGGTCTTGGG	0.617000														33			15		0	0	0.003163	0	0
CCDC54	84692	broad.mit.edu	37	3	107097085	107097085	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:107097085G>A	uc003dwi.1	+	0	898	c.651G>A	c.(649-651)atG>atA	p.M217I		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	217								p.M217I(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CTCCCCAAATGAAAACTCTGA	0.393000														21			23		0	0	0.014323	0	0
BTBD7	55727	broad.mit.edu	37	14	93760510	93760510	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:93760510G>A	uc001ybo.3	-	2	1182	c.856C>T	c.(856-858)Cca>Tca	p.P286S	BTBD7_uc010aur.3_5'UTR|BTBD7_uc010two.2_Missense_Mutation_p.P201S|BTBD7_uc001ybp.3_Intron|BTBD7_uc001ybq.4_Missense_Mutation_p.P201S|BTBD7_uc001ybr.3_Missense_Mutation_p.P286S	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	286	BTB 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CGAAAAAATGGGGACCGTGCA	0.398000														22			16		0	0	0.006122	0	0
SORL1	6653	broad.mit.edu	37	11	121477932	121477932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:121477932C>T	uc001pxx.3	+	36	5228	c.5099C>T	c.(5098-5100)tCc>tTc	p.S1700F	SORL1_uc010rzp.1_Missense_Mutation_p.S546F|SORL1_uc010rzq.1_Missense_Mutation_p.S315F	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1700	Fibronectin type-III 2.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATGTGGGCCTCCCAGAGGGCT	0.453000														14			21		0	0	0.014323	0	0
CAPN11	11131	broad.mit.edu	37	6	44141111	44141111	+	Silent	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:44141111T>C	uc003owt.1	+	6	857	c.819T>C	c.(817-819)ggT>ggC	p.G273G		NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	273	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.M272V(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	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)			CCCTCATGGgttgctccattg	0.592000														21			14		0	0	0.001855	0	0
CTNNA3	29119	broad.mit.edu	37	10	68940116	68940116	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:68940116G>A	uc009xpn.1	-	6	1129	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C	CTNNA3_uc001jmw.2_Missense_Mutation_p.R336C|CTNNA3_uc001jmx.4_Missense_Mutation_p.R336C|CTNNA3_uc009xpo.1_Missense_Mutation_p.R196C|CTNNA3_uc001jna.2_Missense_Mutation_p.R348C	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	336					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.R336C(2)		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						AGAGCCTGGCGAATGGCGTTG	0.512000														32			42		0	0	0.009718	0	0
ELOVL2	54898	broad.mit.edu	37	6	10990062	10990062	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:10990062G>A	uc003mzp.4	-	6	800	c.639C>T	c.(637-639)ttC>ttT	p.F213F		NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	Homo sapiens ELOVL fatty acid elongase 2 (ELOVL2), mRNA.	213					fatty acid elongation, polyunsaturated 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			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TGGTGAGCACGAACTGCACCT	0.547000														43			22		0	0	0.003330	0	0
HOXB1	3211	broad.mit.edu	37	17	46607762	46607762	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:46607762G>A	uc002ink.1	-	0	511	c.505C>T	c.(505-507)Cct>Tct	p.P169S	HOXB1_uc021tzf.1_Missense_Mutation_p.P169S	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	169						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGTTCTGAAGGGCAGGGTGTT	0.587000														43			13		0	0	0.001855	0	0
ERC1	23085	broad.mit.edu	37	12	1137460	1137460	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:1137460C>T	uc001qjb.2	+	1	632	c.391C>T	c.(391-393)Cct>Tct	p.P131S	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Missense_Mutation_p.P131S|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Non-coding_Transcript|ERC1_uc001qjf.2_Missense_Mutation_p.P131S	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	131					I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GCATCACCTCCCTCCTGTGAG	0.498000														54			23		0	0	0.012319	0	0
SLC6A17	388662	broad.mit.edu	37	1	110737277	110737277	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:110737277C>T	uc009wfq.3	+	8	1837	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F	SLC6A17_uc001dze.1_Missense_Mutation_p.S57F	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	459					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	p.S459S(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CCGTTCTGGTCCGTCATGTTC	0.612000														23			18		0	0	0.008871	0	0
PARP6	56965	broad.mit.edu	37	15	72543556	72543556	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:72543556G>A	uc002auc.3	-	15	1759	c.1300C>T	c.(1300-1302)Ctc>Ttc	p.L434F	PARP6_uc002aua.3_Missense_Mutation_p.L279F|PARP6_uc002aub.3_Non-coding_Transcript|PARP6_uc002aud.4_Non-coding_Transcript|PARP6_uc002auf.1_Missense_Mutation_p.L434F	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 6 (PARP6), mRNA.	434	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						ACCCTGCTGAGAGGTAGTTTG	0.413000														55			41		0	0	0.014410	0	0
BTBD16	118663	broad.mit.edu	37	10	124050611	124050611	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:124050611G>A	uc001lgc.1	+	6	743	c.492G>A	c.(490-492)ctG>ctA	p.L164L	BTBD16_uc001lgd.1_Silent_p.L163L	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	164	BTB.									breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CCACGGCCCTGAAGAACCTCT	0.597000														89			30		0	0	0.010818	0	0
NR5A2	2494	broad.mit.edu	37	1	200017832	200017832	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:200017832C>T	uc001gvb.3	+	4	1202	c.996C>T	c.(994-996)aaC>aaT	p.N332N	NR5A2_uc001gvc.3_Silent_p.N286N|NR5A2_uc009wzh.3_Silent_p.N292N|NR5A2_uc010pph.2_Silent_p.N260N	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	332					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AGCAGGCTAACCGAAGCAAGC	0.478000														62			46		0	0	0.011902	0	0
SF3B2	10992	broad.mit.edu	37	11	65819988	65819988	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:65819988G>A	uc001ogy.1	+	1	173	c.133_splice	c.e1+1	p.G45_splice	SF3B2_uc001ogx.1_Splice_Site_p.G45_splice	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	45	SAP.				interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TCCGATCCAGGGTGAGGAACA	0.677000														22			21		0	0	0.008871	0	0
NCR3	259197	broad.mit.edu	37	6	31557865	31557865	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:31557865G>A	uc003nuv.2	-	1	346	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C	NCR3_uc003nuw.2_Missense_Mutation_p.R28C|NCR3_uc003nux.1_Missense_Mutation_p.R28C	NM_147130	NP_667341	O14931	NCTR3_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 3 (NCR3), transcript variant 1, mRNA.	28	Ig-like.				cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane	receptor activity			cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						TCCAGGGTACGAATCTCAGGG	0.572000														64			32		0	0	0.012213	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374817	8374817	+	Silent	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:8374817T>C	uc001qui.2	-	6	1555	c.996A>G	c.(994-996)caA>caG	p.Q332Q	FAM90A1_uc001quh.2_Silent_p.Q332Q	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	332							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		CTGGCGGAGGTTGGAGATTCT	0.652000														14			5		0	0	0.000602	0	0
LILRB3	11025	broad.mit.edu	37	19	54802206	54802206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:54802206G>A	uc002qfd.3	-	5	1074	c.982C>T	c.(982-984)Ctc>Ttc	p.L328F	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Missense_Mutation_p.L264F	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.	327					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)		CGCACGGAGAGGAAGGGTCTG	0.632000														35			8		0	0	0.003080	0	0
KCNT1	57582	broad.mit.edu	37	9	138675892	138675892	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:138675892A>G	uc011mdq.2	+	24	2938	c.2864A>G	c.(2863-2865)aAc>aGc	p.N955S	KCNT1_uc011mdr.2_Missense_Mutation_p.N782S|KCNT1_uc010nbf.3_Missense_Mutation_p.N910S|KCNT1_uc004cgo.1_Missense_Mutation_p.N704S	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	955						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AATGGCTCCAACCTGGCCTTC	0.662000														11			13		0	0	0.003163	0	0
CARD11	84433	broad.mit.edu	37	7	2979559	2979559	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:2979559C>T	uc003smv.3	-	5	1022	c.688G>A	c.(688-690)Gat>Aat	p.D230N		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	230					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.D223N(3)|p.N230K(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTTAGCTGATCGATCTGAAAT	0.493000			Mis		DLBCL									54			30		0	0	0.007291	0	0
FBXL18	80028	broad.mit.edu	37	7	5545201	5545201	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:5545201G>T	uc003soo.2	-	1	173	c.79C>A	c.(79-81)Cac>Aac	p.H27N	FBXL18_uc003son.4_Missense_Mutation_p.H27N	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	27	F-box.								FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CCTAGGAGGTGGACCCCGTCT	0.552000														70			36		1.30475e-32	1.45734e-32	0.009718	1	0
CSMD1	64478	broad.mit.edu	37	8	2830813	2830813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:2830813G>A	uc022aqr.1	-	56	9139	c.8749C>T	c.(8749-8751)Cct>Tct	p.P2917S	CSMD1_uc011kwj.2_Missense_Mutation_p.P2247S|CSMD1_uc010lrg.3_Missense_Mutation_p.P928S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2918						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)		CAGAATCCAGGATTATTTCCT	0.428000														181			100		0	0	0.014410	0	0
SPERT	220082	broad.mit.edu	37	13	46287917	46287917	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:46287917G>A	uc001van.1	+	2	837	c.757G>A	c.(757-759)Gag>Aag	p.E253K	SPERT_uc001vao.2_Missense_Mutation_p.E217K	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	253						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CCTCCGGGAGGAGAATCGCGC	0.682000														10			5		0	0	0.000602	0	0
COL4A4	1286	broad.mit.edu	37	2	227945175	227945175	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:227945175C>T	uc021vxr.1	-	22	1888	c.1787G>A	c.(1786-1788)gGg>gAg	p.G596E	COL4A4_uc021vxs.1_Missense_Mutation_p.G596E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	596	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)		TCCTGGATCCCCTTTTTCTCC	0.463000														76			54		0	0	0.014410	0	0
GAK	2580	broad.mit.edu	37	4	843549	843549	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:843549G>A	uc003gbm.4	-	27	4047	c.3848C>T	c.(3847-3849)cCg>cTg	p.P1283L	GAK_uc003gbn.4_Missense_Mutation_p.P1204L|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Missense_Mutation_p.P1136L	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	1283	J.				cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CTGCTCGTACGGCTGCCCCGC	0.672000														25			6		0	0	0.001984	0	0
C8A	731	broad.mit.edu	37	1	57347273	57347274	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:57347273_57347274GG>AA	uc001cyo.2	+	4	752_753	c.620_621GG>AA	c.(619-621)cgg>cAA	p.R207Q		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	207	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		p.R207W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AAATACTTTCGGAAACCCTACA	0.500000														47			30		0	0	0.004672	0	0
PRSS22	64063	broad.mit.edu	37	16	2903113	2903113	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:2903113C>T	uc002cry.1	-	5	1001	c.935G>A	c.(934-936)gGg>gAg	p.G312E		NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	Homo sapiens protease, serine, 22 (PRSS22), mRNA.	312					proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						CGCGGCGGCCCCAGAGCCCTG	0.731000														6			4		0	0	0.000602	0	0
KIAA1467	57613	broad.mit.edu	37	12	13232794	13232794	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:13232794C>T	uc001rbi.3	+	11	1737	c.1714C>T	c.(1714-1716)Cca>Tca	p.P572S	KIAA1467_uc021qvn.1_Non-coding_Transcript	NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	572						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CGAAGGCCATCCAGCAGCCCT	0.532000														38			21		0	0	0.014323	0	0
AHNAK	79026	broad.mit.edu	37	11	62287735	62287735	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:62287735G>A	uc001ntl.3	-	4	14454	c.14154C>T	c.(14152-14154)gcC>gcT	p.A4718A	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4718					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGATCTTGGGGGCTTTGATGC	0.483000														160			50		0	0	0.014410	0	0
DSG2	1829	broad.mit.edu	37	18	29122529	29122529	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:29122529G>A	uc002kwu.4	+	13	2236	c.2048G>A	c.(2047-2049)gGa>gAa	p.G683E	LOC100652770_uc002kwv.4_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	683					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AGTCTAGTAGGAAGAAATGGA	0.507000														47			27		0	0	0.004656	0	0
ABCB4	5244	broad.mit.edu	37	7	87069527	87069527	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:87069527C>T	uc003uiv.1	-	12	1624	c.1548G>A	c.(1546-1548)atG>atA	p.M516I	ABCB4_uc003uiw.1_Missense_Mutation_p.M516I|ABCB4_uc003uix.1_Missense_Mutation_p.M516I	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	516	ABC transporter 1.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			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)					GTGGTAATTTCATGATAAACT	0.368000														45			9		0	0	0.008291	0	0
IL17RC	84818	broad.mit.edu	37	3	9960203	9960203	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:9960203C>T	uc003bua.3	+	4	806	c.588C>T	c.(586-588)gtC>gtT	p.V196V	CIDEC_uc003bto.3_Intron|IL17RC_uc010hcr.3_Non-coding_Transcript|IL17RC_uc011ato.2_Non-coding_Transcript|IL17RC_uc010hcs.3_Silent_p.V100V|IL17RC_uc003btz.3_Silent_p.V125V|IL17RC_uc011atp.2_Intron|IL17RC_uc003bud.3_5'UTR|IL17RC_uc010hct.3_Silent_p.V125V|IL17RC_uc010hcu.3_Silent_p.V125V|IL17RC_uc003bub.3_Silent_p.V125V|IL17RC_uc010hcv.3_Silent_p.V125V|IL17RC_uc003buc.3_5'UTR|IL17RC_uc011atq.2_Silent_p.V125V	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA.	196						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						AGGCCCAAGTCGTGCTCTCCT	0.642000														63			28		0	0	0.012213	0	0
SLC26A8	116369	broad.mit.edu	37	6	35927293	35927293	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:35927293C>T	uc003olm.3	-	15	1918	c.1807G>A	c.(1807-1809)Gga>Aga	p.G603R	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.G185R|SLC26A8_uc003oll.3_Missense_Mutation_p.G498R|SLC26A8_uc003oln.3_Missense_Mutation_p.G603R	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	603	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			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						ATCTTTCCTCCTTGTAGATTG	0.398000														89			17		0	0	0.007413	0	0
SLAIN2	57606	broad.mit.edu	37	4	48381736	48381736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:48381736C>T	uc003gya.4	+	3	877	c.733C>T	c.(733-735)Cca>Tca	p.P245S	SLAIN2_uc003gyb.1_5'Flank	NM_020846	NP_065897	Q9P270	SLAI2_HUMAN	Homo sapiens SLAIN motif family, member 2 (SLAIN2), mRNA.	245						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						CAGAAATCCTCCACTCAGTCC	0.323000														56			26		0	0	0.003954	0	0
ADORA1	134	broad.mit.edu	37	1	203134560	203134560	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:203134560C>T	uc010pqh.1	+	2	649	c.612C>T	c.(610-612)ttC>ttT	p.F204F	ADORA1_uc001gzf.1_Silent_p.F171F|ADORA1_uc001gze.1_Silent_p.F171F|ADORA1_uc010pqg.1_Silent_p.F103F|ADORA1_uc009xak.1_Nonsense_Mutation_p.R97*	NM_001048230	NP_001041695	P30542	AA1R_HUMAN	Homo sapiens adenosine A1 receptor (ADORA1), transcript variant 2, mRNA.	171					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	AGTGCGAGTTCGAGAAGGTCA	0.572000														24			20		0	0	0.008871	0	0
NOBOX	135935	broad.mit.edu	37	7	144097249	144097249	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:144097249G>A	uc022aoj.1	-	4	1001	c.1001C>T	c.(1000-1002)aCc>aTc	p.T334I		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	334					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TGTTTCAATGGTGGGCCCTCC	0.617000														53			25		0	0	0.005443	0	0
ITGAD	3681	broad.mit.edu	37	16	31424240	31424240	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:31424240G>A	uc010cap.1	+	14	1841	c.1792G>A	c.(1792-1794)Gga>Aga	p.G598R	ITGAD_uc002ebv.1_Missense_Mutation_p.G597R	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	597					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CACCCAGGATGGACTGATGGA	0.652000														59			13		0	0	0.001855	0	0
CHRNA6	8973	broad.mit.edu	37	8	42614235	42614235	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:42614235C>T	uc003xpj.3	-	2	597	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	CHRNA6_uc011lcw.2_Intron	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 6 (CHRNA6), transcript variant 1, mRNA.	81						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AAATTGGTTTCCATGATCTGG	0.393000														56			30		0	0	0.004289	0	0
KIF26B	55083	broad.mit.edu	37	1	245852056	245852056	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:245852056C>T	uc001ibf.1	+	11	6211	c.5771C>T	c.(5770-5772)tCc>tTc	p.S1924F	KIF26B_uc001ibg.1_Missense_Mutation_p.S1542F|KIF26B_uc001ibh.1_Missense_Mutation_p.S1166F	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	1924					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AACAGCAGCTCCGTGGGCGGC	0.716000														20			6		0	0	0.001984	0	0
CLCN1	1180	broad.mit.edu	37	7	143018932	143018932	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:143018932G>A	uc003wcr.1	+	4	774	c.687G>A	c.(685-687)gtG>gtA	p.V229V	CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_Non-coding_Transcript|CLCN1_uc010lox.1_Non-coding_Transcript|CLCN1_uc010loy.1_Silent_p.V77V	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	229					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.V229A(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GCATCCCCGTGGGGAAAGAGG	0.602000														25			20		0	0	0.010504	0	0
ZNF99	7652	broad.mit.edu	37	19	22941862	22941862	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:22941862T>A	uc021urt.1	-	3	1004	c.849A>T	c.(847-849)aaA>aaT	p.K283N		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.E282*(1)|p.C283S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATTTATATGGTTTCTTCCCAG	0.358000														26			15		0	0	0.003163	0	0
OTOA	146183	broad.mit.edu	37	16	21709162	21709162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:21709162C>T	uc002djh.3	+	8	807	c.806C>T	c.(805-807)tCg>tTg	p.S269L	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.S190L	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	269					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GTTCACCTATCGTTTGAAGAA	0.348000														50			30		0	0	0.009535	0	0
CTR9	9646	broad.mit.edu	37	11	10773005	10773005	+	Splice_Site	SNP	G	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:10773005G>T	uc001mja.3	+	1	194	c.45_splice	c.e1+1	p.E15_splice		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	15					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CACTGACGAGGTAAGTGTCGT	0.622000														17			14		1.5739e-10	1.74548e-10	0.004007	1	0
GAS2L2	246176	broad.mit.edu	37	17	34071945	34071945	+	Silent	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:34071945T>C	uc002hjv.2	-	5	2599	c.2571A>G	c.(2569-2571)caA>caG	p.Q857Q		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	857					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTCTGGAGGTTGGGGGCTGC	0.602000														11			13		0	0	0.001855	0	0
FAT1	2195	broad.mit.edu	37	4	187630175	187630175	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:187630175C>A	uc003izf.3	-	1	995	c.807G>T	c.(805-807)agG>agT	p.R269S	FAT1_uc010iso.1_Missense_Mutation_p.R269S	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	269					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGCTGGGTCCCTGTCCAGTT	0.517000										HNSCC(5;0.00058)				281			8		0.00829132	0.00910802	0.008291	1	0
ATP9A	10079	broad.mit.edu	37	20	50230308	50230308	+	Silent	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:50230308A>G	uc002xwg.1	-	22	2479	c.2479T>C	c.(2479-2481)Ttg>Ctg	p.L827L	ATP9A_uc010gih.1_Silent_p.L691L|ATP9A_uc002xwf.1_5'UTR	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	827					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACCATAAGCAACCGGCCAAGA	0.507000														137			62		0	0	0.014410	0	0
ZNF778	197320	broad.mit.edu	37	16	89293871	89293871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:89293871C>T	uc021tms.1	+	6	1514	c.1175C>T	c.(1174-1176)cCc>cTc	p.P392L	ZNF778_uc010vpg.2_Missense_Mutation_p.P127L|ZNF778_uc002fmv.3_Missense_Mutation_p.P364L|ZNF778_uc002fmw.2_Missense_Mutation_p.P322L	NM_001201407	NP_001188336	Q96MU6	ZN778_HUMAN	Homo sapiens zinc finger protein 778 (ZNF778), transcript variant 1, mRNA.	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		AGGGAGAAGCCCTTTGCATGT	0.433000														57			50		0	0	0.014410	0	0
ATAD3A	55210	broad.mit.edu	37	1	1455661	1455661	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:1455661C>T	uc001afz.2	+	5	925	c.799C>T	c.(799-801)Cgt>Tgt	p.R267C	ATAD3A_uc001aga.2_Missense_Mutation_p.R219C|ATAD3A_uc001agb.2_Missense_Mutation_p.R140C	NM_018188	NP_060658	Q9NVI7	ATD3A_HUMAN	Homo sapiens ATPase family, AAA domain containing 3A (ATAD3A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	267							ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		GGCCGAGCACCGTCAGACCGT	0.701000														71			29		0	0	0.004878	0	0
CDK11B	984	broad.mit.edu	37	1	1647848	1647848	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:1647848G>A	uc001agv.1	-	5	508	c.425C>T	c.(424-426)gCt>gTt	p.A142V	CDK11B_uc001ags.1_5'UTR|CDK11B_uc001agt.1_5'UTR|CDK11B_uc001aha.1_Missense_Mutation_p.A108V|CDK11B_uc001agw.1_Missense_Mutation_p.A92V|CDK11B_uc001agy.1_Missense_Mutation_p.A126V|CDK11B_uc001agx.1_Missense_Mutation_p.A126V|CDK11B_uc001agz.1_5'UTR|SLC35E2B_uc001ahh.4_Intron|CDK11B_uc009vkr.3_Missense_Mutation_p.A132V|CDK11B_uc009vks.3_Missense_Mutation_p.A142V|CDK11B_uc010nys.2_Missense_Mutation_p.A132V|CDK11B_uc010nyt.1_Missense_Mutation_p.A142V|CDK11B_uc010nyu.1_Non-coding_Transcript|CDK11B_uc009vkt.1_Missense_Mutation_p.A132V|CDK11B_uc009vku.1_Missense_Mutation_p.A132V|CDK11B_uc009vkv.1_Missense_Mutation_p.A142V|CDK11B_uc001aht.1_Missense_Mutation_p.A132V|CDK11B_uc001ahu.1_Missense_Mutation_p.A132V|CDK11B_uc001ahv.1_Missense_Mutation_p.A142V|CDK11B_uc001ahw.1_Missense_Mutation_p.A142V	NM_033486	NP_277021	P21127	CD11B_HUMAN	Homo sapiens cyclin-dependent kinase 11B (CDK11B), transcript variant 2, mRNA.	144	Glu-rich.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						TTCCCGGCGAGCTTTATCCTG	0.468000														81			35		0	0	0.004289	0	0
GZMA	3001	broad.mit.edu	37	5	54405854	54405854	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:54405854T>G	uc003jpm.3	+	4	670	c.633T>G	c.(631-633)gaT>gaG	p.D211E		NM_006144	NP_006135	P12544	GRAA_HUMAN	Homo sapiens granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) (GZMA), mRNA.	211	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity	p.G210E(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TCCAGGGAGATTCTGGAAGCC	0.478000														12			21		0	0	0.012319	0	0
NLRP11	204801	broad.mit.edu	37	19	56303782	56303782	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:56303782G>A	uc010ygf.2	-	8	3109	c.2398C>T	c.(2398-2400)Ctg>Ttg	p.L800L	NLRP11_uc002qlz.3_Silent_p.L647L|NLRP11_uc002qmb.3_Silent_p.L701L|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.	800							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)		GGGCTGAACAGAAGCACTCTT	0.478000														64			39		0	0	0.005524	0	0
PMEL	6490	broad.mit.edu	37	12	56352320	56352320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:56352320C>T	uc001sir.3	-	3	1069	c.406G>A	c.(406-408)Gga>Aga	p.G136R	PMEL_uc001siq.3_Missense_Mutation_p.G136R|PMEL_uc010spx.2_Missense_Mutation_p.G50R|PMEL_uc001sip.3_Missense_Mutation_p.G136R	NM_006928	NP_008859	P40967	PMEL_HUMAN	Homo sapiens premelanosome protein (PMEL), transcript variant 3, mRNA.	136					melanin biosynthetic process|melanosome organization	Golgi apparatus|endoplasmic reticulum membrane|extracellular region|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGGCAAGGTCCACCATCAGGG	0.522000														32			27		0	0	0.004656	0	0
FGF3	2248	broad.mit.edu	37	11	69625426	69625426	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:69625426C>T	uc001oph.3	-	2	858	c.367G>A	c.(367-369)Gag>Aag	p.E123K		NM_005247	NP_005238	P11487	FGF3_HUMAN	Homo sapiens fibroblast growth factor 3 (FGF3), mRNA.	123					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity	p.H122Q(1)|p.H122N(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			TAGCCCAGCTCGTGGATCCGC	0.647000														32			13		0	0	0.002450	0	0
KCNK10	54207	broad.mit.edu	37	14	88729597	88729597	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:88729597G>A	uc001xwm.3	-	1	473	c.351C>T	c.(349-351)ttC>ttT	p.F117F	KCNK10_uc001xwn.3_Silent_p.F117F|KCNK10_uc001xwo.3_Silent_p.F112F	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	112					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GATCCCGCAGGAATTCCGCCT	0.582000														34			13		0	0	0.001855	0	0
MEGF8	1954	broad.mit.edu	37	19	42880018	42880019	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:42880018_42880019CC>TT	uc002otl.4	+	40	8063_8064	c.7428_7429CC>TT	c.(7426-7431)ccccgg>ccTTgg	p.R2477W	MEGF8_uc002otm.4_Missense_Mutation_p.R2085W|MEGF8_uc002otn.4_Missense_Mutation_p.R138W	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	2544						integral to membrane	calcium ion binding|structural molecule activity	p.L2477L(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ATGGTGGGCCCCGGGGGGCTGG	0.703000														10			12		0	0	0.004672	0	0
ARHGAP19	84986	broad.mit.edu	37	10	99052382	99052382	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:99052382C>A	uc001knb.3	-	0	49	c.3G>T	c.(1-3)atG>atT	p.M1I	ARHGAP19_uc001kmy.3_Non-coding_Transcript|ARHGAP19_uc009xvj.3_Missense_Mutation_p.M1I|ARHGAP19_uc009xvi.3_Non-coding_Transcript|ARHGAP19_uc009xvk.3_5'UTR	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN	Homo sapiens Rho GTPase activating protein 19 (ARHGAP19), transcript variant 1, mRNA.	1					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		CCTCAGTCGCCATCTTCGTCA	0.572000														37			8		0.000274275	0.000301476	0.004482	1	0
FGF23	8074	broad.mit.edu	37	12	4479808	4479808	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:4479808G>A	uc001qmq.1	-	2	603	c.457C>T	c.(457-459)Ccg>Tcg	p.P153S		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Homo sapiens fibroblast growth factor 23 (FGF23), mRNA.	153					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TGGGAGTACGGGGGTGGGTTC	0.617000														72			38		0	0	0.004878	0	0
MYBPC1	4604	broad.mit.edu	37	12	102054987	102054987	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:102054987G>A	uc001tii.3	+	17	2044	c.1904G>A	c.(1903-1905)tGg>tAg	p.W635*	MYBPC1_uc001tig.3_Nonsense_Mutation_p.W660*|MYBPC1_uc010svr.2_Nonsense_Mutation_p.W635*|MYBPC1_uc010svs.2_Nonsense_Mutation_p.W635*|MYBPC1_uc001tij.3_Nonsense_Mutation_p.W635*|MYBPC1_uc010svt.2_Nonsense_Mutation_p.W623*|MYBPC1_uc010svu.2_Nonsense_Mutation_p.W616*|MYBPC1_uc001tik.3_Nonsense_Mutation_p.W609*|MYBPC1_uc001tih.3_Nonsense_Mutation_p.W660*|MYBPC1_uc010svq.2_Nonsense_Mutation_p.W622*	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	635	Fibronectin type-III 1.				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						GGAGATGACTGGTGTATCATG	0.493000														32			17		0	0	0.007413	0	0
CACNA1S	779	broad.mit.edu	37	1	201029892	201029892	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:201029892G>A	uc001gvv.3	-	25	3535	c.3308C>T	c.(3307-3309)cCc>cTc	p.P1103L		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1103					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.I1102L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGGGTTTTTGGGAATGTAGCA	0.537000														170			105		0	0	0.014410	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800779	185800779	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:185800779C>T	uc002uph.3	+	3	1250	c.656C>T	c.(655-657)cCa>cTa	p.P219L		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	219						intracellular	zinc ion binding			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						TTTGCATTTCCAAAGAAAGCG	0.418000														34			25		0	0	0.005443	0	0
PRKCQ	5588	broad.mit.edu	37	10	6521089	6521089	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:6521089G>A	uc001iji.1	-	10	1401	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F	PRKCQ_uc001ijj.2_Silent_p.F406F|PRKCQ_uc009xim.2_Silent_p.F406F|PRKCQ_uc009xin.2_Silent_p.F370F|PRKCQ_uc010qax.2_Silent_p.F281F	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	406	Protein kinase.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.F406F(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CCTTTATTGCGAAAAATTGAT	0.398000														33			17		0	0	0.014323	0	0
TNXB	7148	broad.mit.edu	37	6	32052343	32052343	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:32052343C>T	uc003nzl.2	-	7	3494	c.3292G>A	c.(3292-3294)Gac>Aac	p.D1098N		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1185	Fibronectin type-III 3.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCGTCCCTGTCTTTGTACTGG	0.627000														414			238		0	0	0.014410	0	0
EFEMP2	30008	broad.mit.edu	37	11	65637595	65637595	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:65637595C>G	uc001ofy.4	-	5	863	c.604G>C	c.(604-606)Gtt>Ctt	p.V202L	EFEMP2_uc001ofz.3_Non-coding_Transcript	NM_016938	NP_058634	O95967	FBLN4_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 2 (EFEMP2), transcript variant 1, mRNA.	202	EGF-like 3; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GCCTCACCAACACAGGAGCGG	0.682000														32			15		0	0	0.002450	0	0
MS4A7	58475	broad.mit.edu	37	11	60150751	60150751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:60150751C>T	uc001npe.3	+	1	282	c.137C>T	c.(136-138)aCc>aTc	p.T46I	MS4A7_uc001npf.3_Missense_Mutation_p.T46I|MS4A7_uc001npg.3_Missense_Mutation_p.T46I|MS4A7_uc001nph.3_Missense_Mutation_p.T46I|MS4A14_uc001npi.3_Intron|MS4A7_uc009ymx.1_Missense_Mutation_p.T46I	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 7 (MS4A7), transcript variant 3, mRNA.	46						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						ACAGAAACCACCGTTCTTGGG	0.438000														37			27		0	0	0.007291	0	0
CCDC11	220136	broad.mit.edu	37	18	47765069	47765069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:47765069C>T	uc002lee.2	-	6	1311	c.1220G>A	c.(1219-1221)cGa>cAa	p.R407Q		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA.	407										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TTTAGCTTCTCGTTGCACTAA	0.353000														20			16		0	0	0.004990	0	0
ZNF684	127396	broad.mit.edu	37	1	41012272	41012272	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:41012272C>T	uc001cft.2	+	4	528	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W		NM_152373	NP_689586	Q5T5D7	ZN684_HUMAN	Homo sapiens zinc finger protein 684 (ZNF684), mRNA.	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			AGGGAAGCATCGGGAAAGCAA	0.353000														41			17		0	0	0.008871	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208807	140208807	+	Silent	SNP	C	T	T	rs147499647		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140208807C>T	uc003lho.2	+	0	1158	c.1131C>T	c.(1129-1131)ctC>ctT	p.L377L	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_uc003lhn.2_Silent_p.L377L|PCDHAC2_uc011dab.2_Silent_p.L377L	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	392	Cadherin 4.				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)			TGAACGACCTCGATTCAGGTG	0.512000														120			34		0	0	0.006230	0	0
OR8K3	219473	broad.mit.edu	37	11	56086403	56086403	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:56086403G>A	uc010rjf.2	+	0	621	c.621G>A	c.(619-621)ttG>ttA	p.L207L		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D206E(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					CTATTGATTTGATTTCATCTC	0.363000														37			15		0	0	0.003163	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99123980	99123980	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:99123980C>T	uc003uqv.3	+	5	1441	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F	ZKSCAN5_uc010lfx.3_Silent_p.F439F|ZKSCAN5_uc003uqw.3_Silent_p.F439F|ZKSCAN5_uc003uqx.3_Silent_p.F366F|ZKSCAN5_uc003uqy.3_Silent_p.F175F	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	439					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GGAAGAACTTCGGTCGCCATT	0.537000														148			102		0	0	0.014410	0	0
ZNF524	147807	broad.mit.edu	37	19	56113487	56113487	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:56113487C>T	uc002qlk.1	+	1	92	c.9C>T	c.(7-9)acC>acT	p.T3T	FIZ1_uc002qli.4_5'Flank|FIZ1_uc002qlj.4_5'Flank|ZNF524_uc021vbz.1_Silent_p.T3T	NM_153219	NP_694951	Q96C55	ZN524_HUMAN	Homo sapiens zinc finger protein 524 (ZNF524), mRNA.	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CAATGGACACCCCCAGCCCAG	0.652000														50			34		0	0	0.008740	0	0
HSD17B14	51171	broad.mit.edu	37	19	49337584	49337584	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:49337584G>A	uc002pkv.1	-	2	425	c.159C>T	c.(157-159)ctC>ctT	p.L53L	HSD17B14_uc010emk.1_Silent_p.L53L	NM_016246	NP_057330	Q9BPX1	DHB14_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 14 (HSD17B14), mRNA.	53					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		CAGCTCCAGGGAGCTCCTGCT	0.592000														72			37		0	0	0.003755	0	0
ANKS6	203286	broad.mit.edu	37	9	101542503	101542503	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:101542503G>A	uc004ayu.3	-	5	1357	c.1336C>T	c.(1336-1338)Cca>Tca	p.P446S	ANKS6_uc004ayv.2_5'Flank|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Missense_Mutation_p.P145S	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	446										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GGCAGCACTGGGATGCTCCAG	0.622000														18			20		0	0	0.003330	0	0
SDF4	51150	broad.mit.edu	37	1	1158713	1158713	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:1158713T>A	uc001adh.4	-	3	817	c.488A>T	c.(487-489)aAg>aTg	p.K163M	SDF4_uc001adg.3_5'Flank|SDF4_uc001adi.4_Missense_Mutation_p.K163M|SDF4_uc009vjw.3_Non-coding_Transcript|SDF4_uc001adj.1_Missense_Mutation_p.K41M	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN	Homo sapiens stromal cell derived factor 4 (SDF4), transcript variant 2, mRNA.	163	EF-hand 2.				UV protection|cerebellum development|fat cell differentiation|response to ethanol|zymogen granule exocytosis	Golgi lumen|bleb|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		AAACTTCACCTTATACTCGTC	0.517000														59			38		0	0	0.006999	0	0
MYH2	4620	broad.mit.edu	37	17	10432099	10432099	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:10432099G>A	uc010coi.3	-	26	3780	c.3652C>T	c.(3652-3654)Cga>Tga	p.R1218*	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Nonsense_Mutation_p.R1218*|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.	1218					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						TGCTTCACTCGCTGCAGGTTG	0.527000														27			43		0	0	0.014410	0	0
OR51I2	390064	broad.mit.edu	37	11	5475610	5475610	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:5475610G>A	uc010qzf.2	+	0	973	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 2 (OR51I2), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGACAAAGGAAATCCGCCG	0.438000														113			58		0	0	0.014410	0	0
SLAMF7	57823	broad.mit.edu	37	1	160720129	160720129	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:160720129C>T	uc001fwq.3	+	3	700	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L	SLAMF7_uc010pjn.2_Silent_p.L135L|SLAMF7_uc001fws.3_Silent_p.L122L|SLAMF7_uc001fwr.3_Silent_p.L229L|SLAMF7_uc010pjo.2_Intron|SLAMF7_uc010pjp.2_Intron|SLAMF7_uc010pjq.2_Intron|SLAMF7_uc010pjr.2_Intron	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	Homo sapiens SLAM family member 7 (SLAMF7), mRNA.	229					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CATGGTCCTCCTGTGTCTCCT	0.517000														180			50		0	0	0.014410	0	0
TNRC18	84629	broad.mit.edu	37	7	5413788	5413788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:5413788G>A	uc003soi.4	-	9	3476	c.3127C>T	c.(3127-3129)Ccg>Tcg	p.P1043S		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	1043	Pro-rich.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GTGATACCCGGGGTGGGCGGT	0.682000														13			3		0	0	0.004672	0	0
TKTL2	84076	broad.mit.edu	37	4	164393863	164393863	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:164393863G>A	uc003iqp.4	-	0	1185	c.1024C>T	c.(1024-1026)Ctg>Ttg	p.L342L		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	342						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCACCACTCAGaacaataact	0.428000														62			40		0	0	0.009718	0	0
C20orf79	140856	broad.mit.edu	37	20	18794489	18794489	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:18794489G>A	uc002wrk.3	+	0	120	c.30G>A	c.(28-30)aaG>aaA	p.K10K	C20orf78_uc002wrj.2_Intron	NM_178483	NP_848578	Q9UJQ7	CT079_HUMAN	Homo sapiens chromosome 20 open reading frame 79 (C20orf79), mRNA.	10							sterol binding			NS(1)|breast(1)|large_intestine(2)|lung(4)|skin(4)	12						ATCAACCCAAGATCAAAGCAG	0.517000														40			20		0	0	0.014323	0	0
RASA2	5922	broad.mit.edu	37	3	141291480	141291480	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:141291480C>T	uc010huq.1	+	11	1199	c.1199C>T	c.(1198-1200)tCc>tTc	p.S400F	RASA2_uc003etz.1_Missense_Mutation_p.S400F|RASA2_uc003eua.1_Missense_Mutation_p.S400F|RASA2_uc011bnc.1_5'UTR	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	400	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	Ras GTPase activator activity|metal ion binding	p.S400F(3)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AGAGGAAATTCCCTGGCTACC	0.343000														22			18		0	0	0.007413	0	0
KRT35	3886	broad.mit.edu	37	17	39633394	39633394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:39633394G>A	uc002hws.3	-	6	1325	c.1282C>T	c.(1282-1284)Cct>Tct	p.P428S		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	428	Tail.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GAGGCCGCAGGAAGACAGGGA	0.572000														67			26		0	0	0.003954	0	0
CASZ1	54897	broad.mit.edu	37	1	10708096	10708096	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:10708096G>A	uc001aro.3	-	15	3579	c.3259C>T	c.(3259-3261)Cct>Tct	p.P1087S	CASZ1_uc001arp.1_Missense_Mutation_p.P1087S	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	1087	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGGACCGGAGGGGACGAGGGG	0.692000														10			6		0	0	0.001168	0	0
FGG	2266	broad.mit.edu	37	4	155530823	155530823	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:155530823C>T	uc003ioj.3	-	5	766	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	FGG_uc003iog.3_Missense_Mutation_p.E209K	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	209	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CCATCGATTTCACAGTAGACT	0.388000														64			9		0	0	0.006214	0	0
MGAM	8972	broad.mit.edu	37	7	141763330	141763330	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:141763330G>A	uc003vwy.3	+	35	4343	c.4289G>A	c.(4288-4290)gGg>gAg	p.G1430E		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1430	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTCGTGAATGGGGCAGTTTCT	0.498000														8			6		0	0	0.001984	0	0
DMBT1	1755	broad.mit.edu	37	10	124339268	124339268	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:124339268G>A	uc001lgk.1	+	9	960	c.854G>A	c.(853-855)gGa>gAa	p.G285E	DMBT1_uc001lgl.1_Missense_Mutation_p.G285E|DMBT1_uc001lgm.1_Missense_Mutation_p.G285E|DMBT1_uc021qaf.1_Missense_Mutation_p.G285E|DMBT1_uc021qag.1_Missense_Mutation_p.G285E|DMBT1_uc021qah.1_Missense_Mutation_p.G285E|DMBT1_uc009xzz.1_Missense_Mutation_p.G285E|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.G137E	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	285	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.G285E(2)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCAGCCCCAGGAAATGCCCAG	0.612000														180			57		0	0	0.014410	0	0
CELSR1	9620	broad.mit.edu	37	22	46776758	46776758	+	Silent	SNP	G	A	A	rs142315389	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:46776758G>A	uc003bhw.1	-	21	7183	c.7183C>T	c.(7183-7185)Ctg>Ttg	p.L2395L	CELSR1_uc011arc.1_Silent_p.L716L	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2395					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AACTCCACCAGGACGGGCCTC	0.642000														47			17		0	0	0.004990	0	0
ADAM28	10863	broad.mit.edu	37	8	24196978	24196978	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:24196978G>A	uc003xdy.3	+	15	1651	c.1568_splice	c.e15-1	p.G523_splice	ADAM28_uc011laa.2_Splice_Site|ADAM28_uc010lua.3_Splice_Site_p.G210_splice	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	523	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CCTGGTCCCAGGAACTGAGGT	0.418000														13			7		0	0	0.003080	0	0
TMEM117	84216	broad.mit.edu	37	12	44770492	44770492	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:44770492C>T	uc001rod.3	+	6	949	c.883C>T	c.(883-885)Cgt>Tgt	p.R295C	TMEM117_uc001roe.3_Missense_Mutation_p.R191C|TMEM117_uc009zkc.3_Intron	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	Homo sapiens transmembrane protein 117 (TMEM117), mRNA.	295						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		GGAGGAATATCGTATTCACAT	0.368000														43			31		0	0	0.010818	0	0
DIDO1	11083	broad.mit.edu	37	20	61525205	61525205	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:61525205G>A	uc002ydr.2	-	11	3226	c.2914C>T	c.(2914-2916)Cca>Tca	p.P972S	DIDO1_uc002yds.2_Missense_Mutation_p.P972S|DIDO1_uc002ydt.2_Missense_Mutation_p.P972S|DIDO1_uc002ydu.2_Missense_Mutation_p.P972S	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	972					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)					GAACTGCTTGGAGCGGTCCTG	0.672000														75			34		0	0	0.004289	0	0
CDYL2	124359	broad.mit.edu	37	16	80638340	80638340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:80638340G>A	uc002ffs.3	-	6	1571	c.1466C>T	c.(1465-1467)tCc>tTc	p.S489F		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	489						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						AAGGCCTTTGGAGGAGCTCCA	0.547000														58			47		0	0	0.013114	0	0
ENPEP	2028	broad.mit.edu	37	4	111398065	111398065	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:111398065G>A	uc003iab.4	+	0	837	c.495G>A	c.(493-495)aaG>aaA	p.K165K		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	165					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AGTACAAAAAGCAGGAGTACG	0.622000														124			71		0	0	0.014410	0	0
RNF152	220441	broad.mit.edu	37	18	59483237	59483237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:59483237C>T	uc002lih.1	-	1	872	c.460G>A	c.(460-462)Gag>Aag	p.E154K	RNF152_uc021ula.1_Missense_Mutation_p.E154K	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	154					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				CTGTCCTGCTCCTCCTCCACC	0.652000														29			30		0	0	0.008361	0	0
ITGA1	3672	broad.mit.edu	37	5	52229771	52229771	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:52229771C>T	uc003jou.3	+	22	3323	c.2909C>T	c.(2908-2910)cCt>cTt	p.P970L	ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Missense_Mutation_p.P501L	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	970					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	p.P970S(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GAGACAGTCCCTGAAGTTATT	0.274000														38			21		0	0	0.009535	0	0
CHRNA5	1138	broad.mit.edu	37	15	78873238	78873238	+	Silent	SNP	T	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:78873238T>A	uc002bdy.3	+	1	392	c.192T>A	c.(190-192)ccT>ccA	p.P64P		NM_000745	NP_000736	P30532	ACHA5_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 5 (CHRNA5), mRNA.	64					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						GGGTTCGTCCTGTGGAACACC	0.343000														40			22		0	0	0.012319	0	0
KIAA0317	9870	broad.mit.edu	37	14	75134175	75134175	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:75134175G>A	uc001xqb.3	-	15	2542	c.2037C>T	c.(2035-2037)ttC>ttT	p.F679F	KIAA0317_uc010tut.1_Silent_p.F518F	NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	679	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.00404)		CACCTTTTAGGAAATGTTCCA	0.433000														70			31		0	0	0.013726	0	0
MDN1	23195	broad.mit.edu	37	6	90494817	90494817	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:90494817G>A	uc003pnn.1	-	8	1479	c.1363C>T	c.(1363-1365)Cga>Tga	p.R455*	MDN1_uc003pno.1_5'UTR|MDN1_uc003pnp.1_Nonsense_Mutation_p.R455*	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	455					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)		TTTAGCGGTCGATACCAATTT	0.388000														107			64		0	0	0.014410	0	0
INHBC	3626	broad.mit.edu	37	12	57843515	57843515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:57843515C>T	uc001snv.1	+	1	896	c.769C>T	c.(769-771)Cgt>Tgt	p.R257C		NM_005538	NP_005529	P55103	INHBC_HUMAN	Homo sapiens inhibin, beta C (INHBC), mRNA.	257					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						TGTGGACTTCCGTGAGATTGG	0.562000														41			18		0	0	0.006122	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	25536	25536	+	RNA	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrGL000241.1:25536C>T	uc011mgv.2	-	3		c.456G>A								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		TATATAGGTTCCCTCATCCAT	0.373000														360			47		0	0	0.014410	0	0
POTEH	23784	broad.mit.edu	37	22	16279248	16279248	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:16279248C>T	uc010gqp.2	-	3	1027	c.975G>A	c.(973-975)gtG>gtA	p.V325V	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Silent_p.V44V|POTEH_uc002zlj.1_Silent_p.V160V	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	325										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTAAAAATTTCACCACTTGCT	0.328000														582			32		0	0	0.005524	0	0
LEPREL1	55214	broad.mit.edu	37	3	189705355	189705355	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:189705355C>T	uc011bsk.2	-	4	1447	c.1059G>A	c.(1057-1059)ctG>ctA	p.L353L	LEPREL1_uc003fsg.3_Silent_p.L172L	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	353					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGCTATCATCCAGCAGACTCT	0.413000														43			14		0	0	0.003163	0	0
O3FAR1	338557	broad.mit.edu	37	10	95335855	95335855	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:95335855C>T	uc010qnt.2	+	1	631	c.575C>T	c.(574-576)tCg>tTg	p.S192L	O3FAR1_uc010qnu.2_Missense_Mutation_p.S192L	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	Homo sapiens omega-3 fatty acid receptor 1 (O3FAR1), transcript variant 1, mRNA.	192					negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding			breast(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)	12						TAGGAAATTTCGATTTGCACA	0.438000														47			36		0	0	0.006999	0	0
PDZRN4	29951	broad.mit.edu	37	12	41957359	41957359	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:41957359G>A	uc010skn.2	+	7	1383	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K	PDZRN4_uc001rmq.4_Missense_Mutation_p.E201K|PDZRN4_uc009zjz.3_Missense_Mutation_p.E199K|PDZRN4_uc001rmr.3_Missense_Mutation_p.E86K	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	459	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GATAAATGGGGAAGATGTCCA	0.418000														46			23		0	0	0.004656	0	0
COL4A2	1284	broad.mit.edu	37	13	111121656	111121656	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:111121656T>C	uc001vqx.3	+	27	2477	c.2188T>C	c.(2188-2190)Ttc>Ctc	p.F730L		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	730	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TCGTGAAGGGTTCCCAGGACC	0.577000														12			7		0	0	0.001984	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891712	18891712	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:18891712G>A	uc001rdy.3	+	0	668	c.510G>A	c.(508-510)tgG>tgA	p.W170*	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	170					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				ACGGACTTTGGAAATCTAAAT	0.388000														33			18		0	0	0.007413	0	0
KIAA1407	57577	broad.mit.edu	37	3	113737698	113737698	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:113737698G>A	uc003eax.3	-	7	1137	c.990C>T	c.(988-990)ttC>ttT	p.F330F	KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Silent_p.F308F|KIAA1407_uc011bip.1_Silent_p.F317F	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	330										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCCAGGCAGCGAAATACCGTT	0.488000														166			10		0	0	0.013537	0	0
HTR2A	3356	broad.mit.edu	37	13	47466613	47466613	+	Silent	SNP	G	A	A	rs112426939		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:47466613G>A	uc010acr.3	-	2	1214	c.525C>T	c.(523-525)gtC>gtT	p.V175V	HTR2A_uc001vbr.3_Silent_p.V91V	NM_000621	NP_000612	P28223	5HT2A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA.	175					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	p.V175V(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TCTGGATGGCGACGTAGCGGT	0.532000														268			49		0	0	0.014410	0	0
CCDC150	284992	broad.mit.edu	37	2	197586255	197586255	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:197586255C>T	uc002utp.1	+	20	2404	c.2269C>T	c.(2269-2271)Cta>Tta	p.L757L	CCDC150_uc010zgs.1_Silent_p.L404L|CCDC150_uc010zgt.1_Silent_p.L174L|CCDC150_uc002utq.1_Silent_p.L72L|CCDC150_uc002utr.1_Silent_p.L72L	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.	757										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GATTGAATCTCTACAAAAAGC	0.388000														10			4		0	0	0.009096	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204379328	204379328	+	Silent	SNP	A	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:204379328A>T	uc001hav.4	-	0	1617	c.1212T>A	c.(1210-1212)gtT>gtA	p.V404V		NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15B (PPP1R15B), mRNA.	404					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			ATGAGTAATCAACTACACTTA	0.468000														41			24		0	0	0.004656	0	0
FOXI1	2299	broad.mit.edu	37	5	169532974	169532974	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:169532974G>A	uc003mai.4	+	0	58	c.13G>A	c.(13-15)Gac>Aac	p.D5N	FOXI1_uc003maj.4_Missense_Mutation_p.D5N	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	5					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGCTCCTTCGACCTGCCGGC	0.697000									Pendred syndrome					4			7		0	0	0.001984	0	0
OR4M1	441670	broad.mit.edu	37	14	20248610	20248610	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:20248610C>T	uc010tku.2	+	0	129	c.129C>T	c.(127-129)atC>atT	p.I43I		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAGGAAATATCCTTATCATTT	0.418000														169			79		0	0	0.014410	0	0
SLIT1	6585	broad.mit.edu	37	10	98819885	98819885	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:98819885G>A	uc001kmw.2	-	9	1224	c.972C>T	c.(970-972)atC>atT	p.I324I	SLIT1_uc009xvh.1_Silent_p.I324I	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	324					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CTCCAGGAGGGATGGACTTGA	0.622000														30			25		0	0	0.004656	0	0
GABBR2	9568	broad.mit.edu	37	9	101056148	101056148	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:101056148T>A	uc004ays.3	-	17	3039	c.2579A>T	c.(2578-2580)cAa>cTa	p.Q860L		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	860					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.D859N(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CTGGGGATTTTGATCGAGGTG	0.383000														30			46		0	0	0.014410	0	0
GPR98	84059	broad.mit.edu	37	5	90024573	90024573	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:90024573G>A	uc003kju.3	+	48	10345	c.10249G>A	c.(10249-10251)Ggc>Agc	p.G3417S	GPR98_uc003kjt.3_Missense_Mutation_p.G1123S|GPR98_uc003kjv.3_Missense_Mutation_p.G1017S	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3417					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)		CAACAAGGGAGGCTCTGTGTT	0.488000														85			57		0	0	0.014410	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599060	136599060	+	Missense_Mutation	SNP	G	A	A	rs146790565		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:136599060G>A	uc003qgx.1	-	3	1212	c.959C>T	c.(958-960)tCg>tTg	p.S320L	BCLAF1_uc003qgy.1_Missense_Mutation_p.S318L|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.S318L|BCLAF1_uc003qgw.1_Missense_Mutation_p.S320L	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	320					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGGATAAAACGAGGAACGGCC	0.398000														92			26		0	0	0.009535	0	0
PRKG2	5593	broad.mit.edu	37	4	82125919	82125919	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:82125919G>A	uc003hmh.2	-	0	296	c.283C>T	c.(283-285)Cag>Tag	p.Q95*	PRKG2_uc011cch.1_Nonsense_Mutation_p.Q95*	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	95					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GGAGAGGCCTGAAGCGGGCTT	0.562000														108			51		0	0	0.014410	0	0
OLIG3	167826	broad.mit.edu	37	6	137814848	137814849	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:137814848_137814849CC>GT	uc003qhp.1	-	0	683_684	c.459_460GG>AC	c.(457-462)gggggc>ggACgc	p.G154R		NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	Homo sapiens oligodendrocyte transcription factor 3 (OLIG3), mRNA.	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GAGTGGTGGCCCCCATAGATCT	0.658000														25			13		0	0	0.004672	0	0
ADAMTSL5	339366	broad.mit.edu	37	19	1507247	1507247	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:1507247G>A	uc010xgq.1	-	9	1195	c.876C>T	c.(874-876)ctC>ctT	p.L292L	ADAMTSL5_uc010dsl.2_Silent_p.L51L|ADAMTSL5_uc002ltd.2_Silent_p.L282L	NM_213604	NP_998769	Q6ZMM2	ATL5_HUMAN	Homo sapiens ADAMTS-like 5 (ADAMTSL5), mRNA.	282						proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		GCACCTGTAGGAGCAGGTCAT	0.677000														70			40		0	0	0.006999	0	0
abParts	0	broad.mit.edu	37	22	22697958	22697958	+	RNA	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:22697958C>T	uc021wml.1	+	40		c.4503C>T								Parts of antibodies, mostly variable regions.																		GGGATGGCATCCCTGATCGCT	0.557000											OREG0026357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			11		0	0	0.008291	0	0
ERBB4	2066	broad.mit.edu	37	2	212426789	212426789	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:212426789C>T	uc002veg.1	-	19	2424	c.2326G>A	c.(2326-2328)Gat>Aat	p.D776N	ERBB4_uc002veh.1_Missense_Mutation_p.D776N|ERBB4_uc010zji.1_Missense_Mutation_p.D766N|ERBB4_uc010zjj.1_Missense_Mutation_p.D766N|ERBB4_uc010fut.1_Missense_Mutation_p.D776N	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.	776	Protein kinase.				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)		TGTGGATGATCCATACTTGCC	0.433000										TSP Lung(8;0.080)				49			18		0	0	0.007413	0	0
COL4A1	1282	broad.mit.edu	37	13	110829287	110829287	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:110829287C>T	uc001vqw.4	-	33	2936	c.2814G>A	c.(2812-2814)atG>atA	p.M938I		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	938	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCACCTTATCCATGGAGCCAG	0.587000														59			40		0	0	0.008740	0	0
MACF1	23499	broad.mit.edu	37	1	39910422	39910422	+	Missense_Mutation	SNP	C	G	G	rs680728		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:39910422C>G	uc021olw.1	+	44	14849	c.14849C>G	c.(14848-14850)tCt>tGt	p.S4950C	MACF1_uc021ols.1_Missense_Mutation_p.S4445C|MACF1_uc021olt.1_Missense_Mutation_p.S4448C	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	6517					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)			CGTGACGACTCTGGGTCTGGC	0.458000														45			26		0	0	0.003954	0	0
ADORA3	140	broad.mit.edu	37	1	112026335	112026335	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:112026335C>T	uc001ebf.3	-	5	1785	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	ADORA3_uc001ebg.4_Missense_Mutation_p.E259K	NM_020683	NP_065734	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 1, mRNA.	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GGAGCCATTTCCTTTGGAGTC	0.423000														6			10		0	0	0.008291	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256527	24256527	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:24256527G>A	uc003xdz.2	+	8	1123	c.903G>A	c.(901-903)aaG>aaA	p.K301K	ADAMDEC1_uc010lub.2_Silent_p.K222K|ADAMDEC1_uc011lab.1_Silent_p.K222K	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	301	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.K300E(1)		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)		TGGGGAAAAAGATCCACGACC	0.512000														31			10		0	0	0.010729	0	0
ZNF91	7644	broad.mit.edu	37	19	23542635	23542635	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:23542635G>A	uc002nre.3	-	3	3259	c.3146C>T	c.(3145-3147)cCt>cTt	p.P1049L	ZNF91_uc002nrd.3_5'Flank|ZNF91_uc010xrj.2_Missense_Mutation_p.P1017L	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	1049						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ACACTTGTAAGGTTTCTCTCC	0.363000														38			12		0	0	0.001855	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034562	52034562	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:52034562G>A	uc002pwy.3	-	1	487	c.279C>T	c.(277-279)ttC>ttT	p.F93F	SIGLEC6_uc002pwz.3_Silent_p.F93F|SIGLEC6_uc010ydb.2_Silent_p.F57F|SIGLEC6_uc010ydc.2_Silent_p.F93F|SIGLEC6_uc002pxa.3_Silent_p.F93F|SIGLEC6_uc010eoz.2_Silent_p.F93F|SIGLEC6_uc010epa.2_Silent_p.F82F|SIGLEC6_uc010epb.2_Silent_p.F46F	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	93	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGAGGAGGTGGAATCGGCCCC	0.552000														53			29		0	0	0.007291	0	0
TTC31	64427	broad.mit.edu	37	2	74717502	74717502	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:74717502C>T	uc002slt.2	+	3	387	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	TTC31_uc002sls.2_Missense_Mutation_p.P51S|TTC31_uc002slu.2_5'UTR	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 1, mRNA.	122							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AGAGTCTGAGCCCTGCCCTCA	0.602000														17			23		0	0	0.003330	0	0
NPAS2	4862	broad.mit.edu	37	2	101598751	101598751	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:101598751G>A	uc010yvt.1	+	15	1738	c.1736G>A	c.(1735-1737)cGg>cAg	p.R579Q	NPAS2_uc002tap.1_Missense_Mutation_p.R514Q|NPAS2_uc010fit.1_Missense_Mutation_p.R92Q	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.	514					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGCGGACGCGGATCCTGCAG	0.532000														16			19		0	0	0.008871	0	0
EPS15L1	58513	broad.mit.edu	37	19	16496019	16496019	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:16496019G>A	uc002ndx.3	-	20	2174	c.2168C>T	c.(2167-2169)cCc>cTc	p.P723L	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Missense_Mutation_p.P613L|EPS15L1_uc002ndz.1_Missense_Mutation_p.P723L|EPS15L1_uc010xpf.1_Missense_Mutation_p.P626L|EPS15L1_uc002nea.1_Missense_Mutation_p.P723L|EPS15L1_uc010eah.1_Missense_Mutation_p.P725L	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	723	15 X 3 AA repeats of D-P-F.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GGTTCCAAAGGGATCTGCAAT	0.527000														85			51		0	0	0.014410	0	0
COL4A4	1286	broad.mit.edu	37	2	227896927	227896927	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:227896927G>A	uc021vxr.1	-	37	3744	c.3643C>T	c.(3643-3645)Cct>Tct	p.P1215S	COL4A4_uc021vxs.1_Missense_Mutation_p.P1215S	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1215	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)		GGGCTCCCAGGGTCTCCTCTC	0.512000														47			37		0	0	0.003755	0	0
FAM83F	113828	broad.mit.edu	37	22	40417328	40417328	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:40417328C>T	uc003ayk.1	+	3	908	c.814C>T	c.(814-816)Ctc>Ttc	p.L272F		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.	272										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						GGACAGAAACCTCCTCCTGCT	0.602000														114			65		0	0	0.014410	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107423353	107423353	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:107423353G>A	uc002tdq.3	-	5	1490	c.1371C>T	c.(1369-1371)atC>atT	p.I457I	ST6GAL2_uc002tdr.3_Silent_p.I457I	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	457					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GCACGGATGGGATATATTCAT	0.507000														31			11		0	0	0.010729	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701654	56701654	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:56701654G>A	uc010ygh.2	-	3	1030	c.1030C>T	c.(1030-1032)Cca>Tca	p.P344S		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	344					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGGCCATCTGGGTGACTGACC	0.547000														73			50		0	0	0.014410	0	0
PKD2	5311	broad.mit.edu	37	4	88959628	88959628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:88959628C>T	uc003hre.3	+	3	1156	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S		NM_000297	NP_000288	Q13563	PKD2_HUMAN	Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.	357						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		AGATAGGGCTCCCTTTGGGCC	0.458000														69			33		0	0	0.004289	0	0
LCE1F	353137	broad.mit.edu	37	1	152748928	152748928	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:152748928G>A	uc010pdv.2	+	0	81	c.81G>A	c.(79-81)ccG>ccA	p.P27P		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	27	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			gccccacaccgaagtgccccc	0.657000														35			9		0	0	0.006214	0	0
C12orf51	283450	broad.mit.edu	37	12	112622317	112622317	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:112622317C>T	uc021reb.1	-	60	10447	c.10051G>A	c.(10051-10053)Gcc>Acc	p.A3351T		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.									p.A3313P(1)|p.A3063P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						GAGGCGGAGGCGCTGATGCTC	0.662000														14			7		0	0	0.003080	0	0
OR51I2	390064	broad.mit.edu	37	11	5474883	5474883	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:5474883C>T	uc010qzf.2	+	0	246	c.165C>T	c.(163-165)ctC>ctT	p.L55L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 2 (OR51I2), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCCCAGCCTCCATGAGCCCA	0.572000														60			36		0	0	0.004878	0	0
RAE1	8480	broad.mit.edu	37	20	55953129	55953129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:55953129G>A	uc002xyg.3	+	11	1422	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K	MIR5095_uc021wfc.1_Intron|RAE1_uc002xyi.3_Missense_Mutation_p.E361K	NM_003610	NP_003601	P78406	RAE1L_HUMAN	Homo sapiens RAE1 RNA export 1 homolog (S. pombe) (RAE1), transcript variant 1, mRNA.	361					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	RNA binding|microtubule binding			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			TGCAGCCGAAGAGCTAAAGCC	0.418000														15			11		0	0	0.001855	0	0
HPS4	89781	broad.mit.edu	37	22	26849355	26849355	+	Silent	SNP	A	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:26849355A>C	uc003acl.3	-	13	2630	c.1971T>G	c.(1969-1971)gcT>gcG	p.A657A	HPS4_uc003aci.3_Silent_p.A652A|HPS4_uc003acj.3_Silent_p.A521A|HPS4_uc003ack.3_Silent_p.A448A|HPS4_uc003acn.3_Silent_p.A503A|HPS4_uc003ach.3_Silent_p.A392A	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1, mRNA.	657					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						AGGCGTACACAGCCGTGGAGG	0.552000									Hermansky-Pudlak syndrome					63			33		0	0	0.004289	0	0
PRKG1	5592	broad.mit.edu	37	10	54041916	54041916	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:54041916G>A	uc001jjm.3	+	13	1732	c.1504G>A	c.(1504-1506)Gat>Aat	p.D502N	PRKG1_uc001jjo.3_Missense_Mutation_p.D517N|PRKG1_uc009xow.2_Missense_Mutation_p.D220N|LOC100506939_uc021pqu.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	502	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			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)		TTGTAAGGTTGATTTTGGCTT	0.333000														21			22		0	0	0.012319	0	0
OR8K3	219473	broad.mit.edu	37	11	56086643	56086643	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:56086643G>A	uc010rjf.2	+	0	861	c.861G>A	c.(859-861)ttG>ttA	p.L287L		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L287*(1)|p.L287W(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TGAATCCCTTGATCTATAGTT	0.353000														31			11		0	0	0.013537	0	0
DNAJC10	54431	broad.mit.edu	37	2	183623942	183623942	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:183623942C>T	uc002uow.1	+	20	2468	c.2053C>T	c.(2053-2055)Cta>Tta	p.L685L	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Silent_p.L639L|DNAJC10_uc010fro.1_Non-coding_Transcript	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.	685	Thioredoxin 4.				ER-associated protein catabolic process|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGAAAAAGTTCTACAAGGGAA	0.373000														29			10		0	0	0.006214	0	0
OR7D4	125958	broad.mit.edu	37	19	9324628	9324628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9324628C>T	uc002mla.2	-	0	920	c.886G>A	c.(886-888)Gat>Aat	p.D296N		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K295R(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CCCTTCACATCCTTGTTCCTC	0.567000														53			5		0	0	0.003080	0	0
TMC5	79838	broad.mit.edu	37	16	19505675	19505676	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:19505675_19505676GG>AA	uc002dgc.4	+	19	3667_3668	c.2918_2919GG>AA	c.(2917-2919)agg>aAA	p.R973K	TMC5_uc010vaq.2_Missense_Mutation_p.R921K|TMC5_uc002dgb.4_Missense_Mutation_p.R915K|TMC5_uc010var.2_Missense_Mutation_p.R973K|TMC5_uc002dge.4_Missense_Mutation_p.R727K|TMC5_uc002dgf.4_Missense_Mutation_p.R656K|TMC5_uc002dgg.4_Missense_Mutation_p.R614K	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	973						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GTTCTGGAAAGGAGAGAGGTGG	0.495000														55			18		0	0	0.004672	0	0
TMCO5A	145942	broad.mit.edu	37	15	38233393	38233393	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:38233393A>T	uc001zjw.3	+	5	533	c.431A>T	c.(430-432)aAg>aTg	p.K144M	TMCO5A_uc001zjv.1_Missense_Mutation_p.K144M|TMCO5A_uc010bbc.1_Missense_Mutation_p.K144M	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN	Homo sapiens transmembrane and coiled-coil domains 5A (TMCO5A), mRNA.	144						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						TGCCAAGAGAAGGAGCTGCTC	0.423000														34			15		0	0	0.004990	0	0
PTPN5	84867	broad.mit.edu	37	11	18754142	18754142	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:18754142G>A	uc001mpd.3	-	11	1757	c.1326C>T	c.(1324-1326)ctC>ctT	p.L442L	PTPN5_uc001mpb.3_Silent_p.L410L|PTPN5_uc001mpc.3_Silent_p.L442L|PTPN5_uc010rdj.2_Silent_p.L386L|PTPN5_uc001mpf.3_Silent_p.L418L|PTPN5_uc001mpe.3_Silent_p.L410L|PTPN5_uc010rdk.2_Silent_p.L387L	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	442	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GCCTCACCTTGAGGGAGATGA	0.587000											OREG0020824	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		117			26		0	0	0.007291	0	0
ANKS1B	56899	broad.mit.edu	37	12	99478708	99478708	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:99478708G>A	uc001tge.2	-	15	3037	c.2620C>T	c.(2620-2622)Cca>Tca	p.P874S	ANKS1B_uc001tgf.2_Missense_Mutation_p.P450S|ANKS1B_uc001tgk.3_Missense_Mutation_p.P171S|ANKS1B_uc001tgd.2_Missense_Mutation_p.P100S|ANKS1B_uc009ztr.3_Missense_Mutation_p.P100S|ANKS1B_uc001tgj.3_Missense_Mutation_p.P100S|ANKS1B_uc001tgi.3_Missense_Mutation_p.P100S|ANKS1B_uc009zts.2_Missense_Mutation_p.P100S|ANKS1B_uc001tgg.4_Missense_Mutation_p.P43S|ANKS1B_uc010svg.2_Missense_Mutation_p.P69S|5S_rRNA_uc021rcl.1_5'Flank	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	874	SAM 1.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CTCACCTTTGGAAGGAGCTGG	0.418000														14			9		0	0	0.006214	0	0
AMZ1	155185	broad.mit.edu	37	7	2752457	2752457	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:2752457G>A	uc003smr.1	+	6	1803	c.1442G>A	c.(1441-1443)cGa>cAa	p.R481Q	AMZ1_uc003sms.1_3'UTR|AMZ1_uc011jwa.1_Missense_Mutation_p.R230Q	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.	481							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CTGAGTGCCCGAAAACTCGCC	0.657000														31			29		0	0	0.013726	0	0
TC2N	123036	broad.mit.edu	37	14	92265359	92265359	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:92265359T>C	uc001xzu.4	-	5	802	c.611A>G	c.(610-612)aAt>aGt	p.N204S	TC2N_uc001xzt.4_Missense_Mutation_p.N204S|TC2N_uc010auc.3_Missense_Mutation_p.N204S|TC2N_uc001xzv.4_Missense_Mutation_p.N204S	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	204						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CCCCTGAGAATTTTTCCTTGA	0.318000														55			15		0	0	0.008871	0	0
ZNF594	84622	broad.mit.edu	37	17	5087191	5087191	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:5087191G>A	uc010cla.1	-	1	517	c.361C>T	c.(361-363)Cat>Tat	p.H121Y	ZNF594_uc021tol.1_Missense_Mutation_p.H121Y	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	Homo sapiens zinc finger protein 594 (ZNF594), mRNA.	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTTATATTATGAATTTTCTGA	0.348000														10			12		0	0	0.001855	0	0
CSMD2	114784	broad.mit.edu	37	1	34052145	34052145	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:34052145C>T	uc001bxm.1	-	45	7187	c.7010G>A	c.(7009-7011)gGa>gAa	p.G2337E	CSMD2_uc001bxn.1_Missense_Mutation_p.G2339E	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2339	Sushi 13.					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)				CAGGTAGGTTCCAAGTTTGCA	0.488000														55			21		0	0	0.014323	0	0
DAPP1	27071	broad.mit.edu	37	4	100789302	100789302	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:100789302G>A	uc003hvf.4	+	8	893	c.803G>A	c.(802-804)gGg>gAg	p.G268E	DAPP1_uc010ilh.3_3'UTR	NM_014395	NP_055210	Q9UN19	DAPP1_HUMAN	Homo sapiens dual adaptor of phosphotyrosine and 3-phosphoinositides (DAPP1), mRNA.	268					signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		CTCAACCAAGGGGAAGGCACG	0.428000														78			5		0	0	0.001168	0	0
BRDT	676	broad.mit.edu	37	1	92470044	92470044	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:92470044C>T	uc001dol.4	+	17	2880	c.2462C>T	c.(2461-2463)tCc>tTc	p.S821F	BRDT_uc010osz.2_Missense_Mutation_p.S825F|BRDT_uc001dok.4_Missense_Mutation_p.S821F|BRDT_uc009wdf.3_Missense_Mutation_p.S748F|BRDT_uc010otb.2_Missense_Mutation_p.S775F|BRDT_uc010ota.2_Missense_Mutation_p.S775F|BRDT_uc001dom.4_Missense_Mutation_p.S821F	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	821					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.S821S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GTAATGAAATCCTCAGATGAG	0.358000														70			46		0	0	0.014410	0	0
PASK	23178	broad.mit.edu	37	2	242072304	242072304	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:242072304G>A	uc002wao.2	-	8	1581	c.1448C>T	c.(1447-1449)cCt>cTt	p.P483L	PASK_uc010zol.2_Missense_Mutation_p.P297L|PASK_uc010zom.2_Missense_Mutation_p.P448L|PASK_uc010fzl.2_Missense_Mutation_p.P483L|PASK_uc010zon.2_Missense_Mutation_p.P264L|PASK_uc021vzf.1_Missense_Mutation_p.P483L|PASK_uc002wap.3_Missense_Mutation_p.P26L|PASK_uc002waq.3_Missense_Mutation_p.P483L	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	483					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)		AGCAGGCTGAGGTGAGAGGCA	0.527000														36			11		0	0	0.010729	0	0
ZNF679	168417	broad.mit.edu	37	7	63726906	63726906	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:63726906G>A	uc003tsx.3	+	4	1164	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATACACATGTGAAGAATGTGG	0.438000														13			9		0	0	0.004482	0	0
NPAS3	64067	broad.mit.edu	37	14	34270029	34270029	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:34270029C>T	uc001wru.3	+	11	2580	c.2516C>T	c.(2515-2517)gCc>gTc	p.A839V	NPAS3_uc001wrs.3_Missense_Mutation_p.A826V|NPAS3_uc001wrv.3_Missense_Mutation_p.A809V|NPAS3_uc001wrt.3_Missense_Mutation_p.A807V	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	839					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GTGACCCTGGCCATGCAGAGC	0.677000														8			5		0	0	0.000602	0	0
TMCO7	79613	broad.mit.edu	37	16	68894226	68894226	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:68894226C>T	uc002ewi.4	+	1	546	c.534C>T	c.(532-534)gtC>gtT	p.V178V	TMCO7_uc002ewh.3_Silent_p.V178V	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA.	178						integral to membrane	binding			endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2)	20		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		TTGGTGCCGTCGTTCAAGACG	0.498000														133			47		0	0	0.014410	0	0
NXPH1	30010	broad.mit.edu	37	7	8791000	8791000	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:8791000G>A	uc003srv.3	+	2	1328	c.417G>A	c.(415-417)ggG>ggA	p.G139G	NXPH1_uc011jxh.2_Silent_p.G22G	NM_152745	NP_689958	P58417	NXPH1_HUMAN	Homo sapiens neurexophilin 1 (NXPH1), mRNA.	139	III.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TGATAACTGGGAAAATTGTAG	0.398000														42			35		0	0	0.003271	0	0
SMARCD2	6603	broad.mit.edu	37	17	61910990	61910990	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:61910990G>A	uc010deb.1	-	9	1591	c.1274C>T	c.(1273-1275)gCc>gTc	p.A425V	SMARCD2_uc010wpt.1_Missense_Mutation_p.A377V|SMARCD2_uc010dea.1_Missense_Mutation_p.A350V	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 (SMARCD2), mRNA.	425					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						GGTGGTAGAGGCCAGAAAATT	0.587000														69			45		0	0	0.010771	0	0
ATP2C2	9914	broad.mit.edu	37	16	84456253	84456253	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:84456253G>T	uc010chj.3	+	8	882	c.793G>T	c.(793-795)Ggg>Tgg	p.G265W	ATP2C2_uc002fhx.3_Missense_Mutation_p.G265W|ATP2C2_uc002fhy.3_Missense_Mutation_p.G282W|ATP2C2_uc002fhz.3_Missense_Mutation_p.G114W	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	265					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						GATTGGAACAGGGGAAAGCTC	0.547000														175			33		3.93418e-24	4.38883e-24	0.004289	1	0
ADCY6	112	broad.mit.edu	37	12	49166193	49166193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:49166193C>T	uc001rsh.4	-	16	3332	c.2672G>A	c.(2671-2673)aGg>aAg	p.R891K	ADCY6_uc001rsi.4_Missense_Mutation_p.R838K|ADCY6_uc001rsj.4_Missense_Mutation_p.R891K|ADCY6_uc010slw.1_Missense_Mutation_p.R122K|MIR4701_uc021qxl.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	891					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	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GAGGGCCACCCTCCCTGCAGC	0.557000														32			19		0	0	0.012319	0	0
RAB22A	57403	broad.mit.edu	37	20	56928332	56928332	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:56928332C>T	uc002xyz.3	+	3	464	c.202C>T	c.(202-204)Cgt>Tgt	p.R68C		NM_020673	NP_065724	Q9UL26	RB22A_HUMAN	Homo sapiens RAB22A, member RAS oncogene family (RAB22A), mRNA.	68					endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			TCTGCAGTTTCGTGCCTTAGC	0.343000														48			38		0	0	0.008740	0	0
SDPR	8436	broad.mit.edu	37	2	192701046	192701046	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:192701046G>A	uc002utb.3	-	1	1236	c.881C>T	c.(880-882)cCc>cTc	p.P294L		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	294						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GAAAGTGAGGGGAGAAACCTT	0.468000														121			44		0	0	0.014410	0	0
UNC13C	440279	broad.mit.edu	37	15	54305335	54305335	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:54305335G>A	uc021smr.1	+	0	235	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	UNC13C_uc021sms.1_Missense_Mutation_p.E79K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	79					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)		ATCCACTGAGGAAGACGAGGC	0.423000														35			38		0	0	0.006230	0	0
PELO	53918	broad.mit.edu	37	5	52096558	52096558	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:52096558C>T	uc003jos.3	+	1	1315	c.330C>T	c.(328-330)ttC>ttT	p.F110F	ITGA1_uc003jou.3_Intron|ITGA1_uc003jov.3_Intron	NM_015946	NP_057030	Q9BRX2	PELO_HUMAN	Homo sapiens pelota homolog (Drosophila) (PELO), mRNA.	110					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				ACCGCCAGTTCACCCTGGCCA	0.597000														39			26		0	0	0.004656	0	0
DDX60L	91351	broad.mit.edu	37	4	169279421	169279421	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:169279421G>A	uc021xuh.1	-	36	5108	c.4998C>T	c.(4996-4998)tcC>tcT	p.S1666S	DDX60L_uc003irq.4_Silent_p.S1666S	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	1666							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GTTCACTCAAGGAGTCACTGt	0.294000														18			8		0	0	0.003080	0	0
COL17A1	1308	broad.mit.edu	37	10	105794047	105794047	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:105794047C>T	uc001kxr.3	-	51	3981	c.3812G>A	c.(3811-3813)gGg>gAg	p.G1271E	COL17A1_uc001kxq.3_5'Flank	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	1271	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TCCCTGCGGCCCAGGAGGGCC	0.652000														8			3		0	0	0.004672	0	0
EPHA6	285220	broad.mit.edu	37	3	96706657	96706657	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:96706657C>T	uc010how.1	+	2	977	c.934C>T	c.(934-936)Cct>Tct	p.P312S	EPHA6_uc003drp.1_Missense_Mutation_p.P312S	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	217						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GGCCATGTTTCCTGATACCAT	0.468000														174			9		0	0	0.006214	0	0
POPDC2	64091	broad.mit.edu	37	3	119378809	119378809	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:119378809G>A	uc003ecx.1	-	0	596	c.462C>T	c.(460-462)atC>atT	p.I154I	POPDC2_uc010hqw.1_Silent_p.I154I|POPDC2_uc003ecy.1_5'UTR	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN	Homo sapiens popeye domain containing 2 (POPDC2), mRNA.	154						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		ACAGGCGGTTGATGGGTGTCT	0.532000														35			41		0	0	0.008740	0	0
DPP10	57628	broad.mit.edu	37	2	116066836	116066837	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:116066836_116066837CC>TT	uc002tle.3	+	1	115_116	c.94_95CC>TT	c.(94-96)cca>TTa	p.P32L	DPP10_uc002tla.2_Missense_Mutation_p.P28L|DPP10_uc021vnb.1_Non-coding_Transcript|DPP10_uc002tlb.2_5'UTR|DPP10_uc002tlc.2_Missense_Mutation_p.P24L|DPP10_uc002tlf.2_Missense_Mutation_p.P21L	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	28	Mediates effects on KCND2.				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.L32M(1)		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						TAACAGCCCTCCACAGAGAAAC	0.396000														29			9		0	0	0.004672	0	0
CELSR2	1952	broad.mit.edu	37	1	109803663	109803663	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:109803663G>A	uc001dxa.4	+	3	4020	c.3959_splice	c.e3-1	p.G1320_splice		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1320	EGF-like 2; calcium-binding.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCTTGTCCAGGTGAGCACTG	0.607000														54			102		0	0	0.014410	0	0
ARMC4	55130	broad.mit.edu	37	10	28224106	28224106	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:28224106C>T	uc009xky.3	-	15	2426	c.2328G>A	c.(2326-2328)gtG>gtA	p.V776V	ARMC4_uc010qds.2_Silent_p.V301V|ARMC4_uc010qdt.2_Silent_p.V468V|ARMC4_uc001itz.3_Silent_p.V776V	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	776							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AGGCCCCAACCACATTCACAA	0.453000														49			36		0	0	0.004289	0	0
UNC79	57578	broad.mit.edu	37	14	94053162	94053162	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:94053162G>A	uc001ybv.1	+	18	2492	c.2409G>A	c.(2407-2409)aaG>aaA	p.K803K	UNC79_uc001ybs.1_Silent_p.K803K	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	980						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATTGCCTGAAGATTCTCTGTC	0.368000														89			41		0	0	0.006999	0	0
C12orf53	196500	broad.mit.edu	37	12	6806600	6806600	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:6806600C>T	uc021quc.1	-	2	715	c.376G>A	c.(376-378)Gga>Aga	p.G126R	C12orf53_uc001qqf.2_Missense_Mutation_p.G126R|C12orf53_uc001qqg.2_Missense_Mutation_p.G126R	NM_001244015	NP_001230944	Q8IYJ0	CL053_HUMAN	Homo sapiens chromosome 12 open reading frame 53 (C12orf53), transcript variant 3, mRNA.	126						integral to membrane				kidney(2)|large_intestine(1)|lung(3)	6						TCCAGAAATCCGGGATTGGCA	0.597000														43			22		0	0	0.006320	0	0
RP1L1	94137	broad.mit.edu	37	8	10470276	10470276	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:10470276C>T	uc003wtc.3	-	3	1561	c.1332G>A	c.(1330-1332)ggG>ggA	p.G444G		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	444					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)		ATCTCTCCCTCCCGGCAGTCC	0.716000														57			17		0	0	0.007413	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169539882	169539882	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:169539882A>C	uc003fgb.3	+	0	173	c.173A>C	c.(172-174)aAc>aCc	p.N58T		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	58										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTGGAGAATAACCAGATTGAA	0.448000														75			28		0	0	0.007291	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004776	75004776	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:75004776G>A	uc004ecj.2	-	0	304	c.111C>T	c.(109-111)tcC>tcT	p.S37S		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	37										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGACTAGCATGGAGGTGGGGG	0.582000														10			33		0	0	0.004289	0	0
APOB	338	broad.mit.edu	37	2	21249786	21249786	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:21249786C>T	uc002red.3	-	14	2246	c.2118G>A	c.(2116-2118)ggG>ggA	p.G706G		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	706					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATCCTTGCTTCCCAAAAAGAG	0.418000														263			75		0	0	0.014410	0	0
USP10	9100	broad.mit.edu	37	16	84797807	84797807	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:84797807C>T	uc010voe.2	+	10	2033	c.1782C>T	c.(1780-1782)tcC>tcT	p.S594S	USP10_uc002fii.3_Silent_p.S590S|USP10_uc010vof.2_Silent_p.S152S|USP10_uc002fij.3_Silent_p.S116S	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	590					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						ACAAGACTTCCGTCACCCGCC	0.488000														82			27		0	0	0.003954	0	0
GRIA1	2890	broad.mit.edu	37	5	153085405	153085405	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:153085405C>T	uc011dcy.2	+	10	1658	c.1631C>T	c.(1630-1632)cCt>cTt	p.P544L	GRIA1_uc003lva.4_Missense_Mutation_p.P534L|GRIA1_uc003luy.4_Missense_Mutation_p.P534L|GRIA1_uc003luz.4_Missense_Mutation_p.P439L|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.P454L|GRIA1_uc011dcx.2_Missense_Mutation_p.P465L|GRIA1_uc011dcz.2_Missense_Mutation_p.P544L|GRIA1_uc010jia.1_Missense_Mutation_p.P514L	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	534					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			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)	TTCCTTGATCCTTTGGCTTAT	0.433000														61			62		0	0	0.014410	0	0
ANK3	288	broad.mit.edu	37	10	61959912	61959913	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:61959912_61959913CC>TT	uc001jky.3	-	12	1803_1804	c.1465_1466GG>AA	c.(1465-1467)gga>AAa	p.G489K	ANK3_uc010qih.2_Missense_Mutation_p.G472K|ANK3_uc001jkz.4_Missense_Mutation_p.G483K|ANK3_uc001jlb.1_Missense_Mutation_p.G18K|ANK3_uc001jlc.1_Missense_Mutation_p.G150K	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	489					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						TACCTGAGCTCCGTCTTGTACC	0.431000														30			16		0	0	0.004672	0	0
NBEAL1	65065	broad.mit.edu	37	2	204034557	204034557	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:204034557G>A	uc002uzt.3	+	37	6331	c.5998G>A	c.(5998-6000)Gca>Aca	p.A2000T	NBEAL1_uc021vvj.1_Missense_Mutation_p.A703T	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2000	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GTTATTCAAAGCATCAGGATT	0.338000														251			77		0	0	0.014410	0	0
IGDCC4	57722	broad.mit.edu	37	15	65685779	65685779	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:65685779G>A	uc002aou.1	-	9	2015	c.1805C>T	c.(1804-1806)tCg>tTg	p.S602L	IGDCC4_uc002aot.1_Missense_Mutation_p.S190L	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	602	Fibronectin type-III 2.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGTACCAGCCGAAATCCGTAC	0.552000														44			25		0	0	0.004656	0	0
ZNF257	113835	broad.mit.edu	37	19	22270897	22270897	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:22270897G>A	uc010ecx.3	+	3	514	c.345G>A	c.(343-345)aaG>aaA	p.K115K	ZNF257_uc010ecy.3_Silent_p.K83K	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AATTAAGAAAGGGCTGTAAAA	0.358000														34			23		0	0	0.004656	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820755	35820755	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:35820755G>A	uc010ngt.1	+	1	721	c.442G>A	c.(442-444)Gag>Aag	p.E148K	MAGEB16_uc022bus.1_Missense_Mutation_p.E148K	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	148	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CAAAGATGATGAGAGCCACTT	0.448000														12			44		0	0	0.011902	0	0
MYH6	4624	broad.mit.edu	37	14	23855289	23855289	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:23855289C>T	uc001wjv.3	-	33	5082	c.5011G>A	c.(5011-5013)Gag>Aag	p.E1671K		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1671					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)		GCGATGTTCTCCTTCAGGTCG	0.642000														40			18		0	0	0.010504	0	0
ASB17	127247	broad.mit.edu	37	1	76397793	76397793	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:76397793C>T	uc001dhe.2	-	0	324	c.184G>A	c.(184-186)Ggt>Agt	p.G62S	ASB17_uc001dhf.2_Non-coding_Transcript	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 17 (ASB17), transcript variant 1, mRNA.	62					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						GCGTCAAAACCATCCAAGTCC	0.403000														69			52		0	0	0.014410	0	0
DPYSL5	56896	broad.mit.edu	37	2	27167592	27167592	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:27167592G>A	uc002rhu.4	+	11	1667	c.1509G>A	c.(1507-1509)ggG>ggA	p.G503G	DPYSL5_uc002rhv.4_Silent_p.G503G|DPYSL5_uc021vev.1_Silent_p.G503G	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	503					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCACCCTGGGAAAAAAGAGA	0.572000														76			14		0	0	0.003163	0	0
DNAH3	55567	broad.mit.edu	37	16	21157305	21157305	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:21157305C>T	uc010vbe.2	-	2	222	c.222_splice	c.e2+1	p.Q74_splice	DNAH3_uc002die.2_Splice_Site_p.Q45_splice	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	74	Stem (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)		GTGTGCATACCTGATAGAGTC	0.552000														44			14		0	0	0.003163	0	0
DLEC1	9940	broad.mit.edu	37	3	38104186	38104186	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:38104186C>T	uc003chp.1	+	4	1009	c.988C>T	c.(988-990)Ccc>Tcc	p.P330S	DLEC1_uc003cho.1_Missense_Mutation_p.P330S|DLEC1_uc010hgv.1_Missense_Mutation_p.P330S|DLEC1_uc010hgw.1_Missense_Mutation_p.P29S|DLEC1_uc003chq.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	330					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)		CCTAAAAAATCCCCGTTTTTT	0.458000														47			34		0	0	0.012213	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960452	73960452	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:73960452G>A	uc004eby.3	-	2	4557	c.3940C>T	c.(3940-3942)Cag>Tag	p.Q1314*		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1314					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	p.Q1314*(2)		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						GAAGGCTCCTGAAATTCCCGT	0.532000														18			50		0	0	0.014410	0	0
FRAS1	80144	broad.mit.edu	37	4	79308708	79308708	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:79308708C>T	uc003hlb.2	+	28	4268	c.3828C>T	c.(3826-3828)atC>atT	p.I1276I	FRAS1_uc003hkw.3_Silent_p.I1276I	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1275					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						CAACCCCTATCTATCAATTCC	0.488000														24			18		0	0	0.007413	0	0
KCNH7	90134	broad.mit.edu	37	2	163374419	163374419	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:163374419G>A	uc002uch.2	-	3	942	c.713C>T	c.(712-714)tCc>tTc	p.S238F	KCNH7_uc002uci.3_Missense_Mutation_p.S238F	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	238					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)	TTTGGGAGAGGAATGGTCAAG	0.488000														71			15		0	0	0.003163	0	0
USP24	23358	broad.mit.edu	37	1	55559734	55559734	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:55559734G>A	uc021onw.1	-	51	6483	c.6230C>T	c.(6229-6231)tCa>tTa	p.S2077L	USP24_uc001cyg.4_Missense_Mutation_p.S1911L	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA.	2077					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.C2077*(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TGACTGAGGTGAAATTTCTGG	0.433000														26			6		0	0	0.001168	0	0
WDR36	134430	broad.mit.edu	37	5	110428012	110428012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:110428012G>A	uc003kpd.3	+	0	143	c.26G>A	c.(25-27)cGg>cAg	p.R9Q	WDR36_uc010jbu.3_Non-coding_Transcript	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	Homo sapiens WD repeat domain 36 (WDR36), mRNA.	9					rRNA processing|response to stimulus|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GGCAGTCTCCGGAAACGCGAT	0.587000														47			51		0	0	0.014410	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105464556	105464556	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:105464556G>A	uc001tlc.3	-	2	347	c.220C>T	c.(220-222)Cct>Tct	p.P74S	ALDH1L2_uc009zup.3_Non-coding_Transcript	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L2 (ALDH1L2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	74	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TTGAACACAGGGGTCCCATCT	0.413000														69			38		0	0	0.007835	0	0
DNAH3	55567	broad.mit.edu	37	16	21011568	21011568	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:21011568C>T	uc010vbe.2	-	42	6399	c.6399G>A	c.(6397-6399)ggG>ggA	p.G2133G		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2133	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)		CTGCTTTCTTCCCTATGGGAG	0.517000														32			26		0	0	0.007291	0	0
BZW2	28969	broad.mit.edu	37	7	16734576	16734576	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:16734576G>A	uc003stj.2	+	7	931	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	BZW2_uc011jxx.1_Missense_Mutation_p.E63K|BZW2_uc003stl.2_Missense_Mutation_p.E257K|BZW2_uc003stm.2_Missense_Mutation_p.E63K|BZW2_uc003sto.1_Missense_Mutation_p.E105K	NM_014038	NP_054757	Q9Y6E2	BZW2_HUMAN	Homo sapiens basic leucine zipper and W2 domains 2 (BZW2), transcript variant 2, mRNA.	257	W2.				RNA metabolic process|cell differentiation|nervous system development		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		CACCAGGAAGGAACTGCAGAA	0.532000														38			31		0	0	0.009535	0	0
YSK4	80122	broad.mit.edu	37	2	135782196	135782196	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:135782196C>T	uc002tue.1	-	1	53	c.22_splice	c.e1+1	p.E8_splice	YSK4_uc010fne.1_Intron|YSK4_uc002tuf.1_Splice_Site_p.E8_splice|YSK4_uc010fnc.1_Splice_Site_p.E8_splice|YSK4_uc010fnd.1_Splice_Site_p.E8_splice|YSK4_uc010zbg.1_Splice_Site_p.E8_splice|YSK4_uc002tui.4_5'Flank	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	8							ATP binding|protein serine/threonine kinase activity			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)		AAGTATTTACCTGGTTTTGGC	0.328000														89			19		0	0	0.014323	0	0
abParts	0	broad.mit.edu	37	2	90249238	90249238	+	RNA	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:90249238C>T	uc010yts.2	+	39		c.5073C>T								Parts of antibodies, mostly variable regions.																		CCAGCAAAAGCCCCTAAGCTC	0.502000														111			30		0	0	0.012213	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907988	164907988	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:164907988G>A	uc003fej.4	-	1	1075	c.631C>T	c.(631-633)Ctt>Ttt	p.L211F	SLITRK3_uc003fek.3_Missense_Mutation_p.L211F|SLITRK3_uc021xgy.1_Missense_Mutation_p.L211F	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	211						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						CGGTAAAAAAGAACCTTTAAC	0.398000										HNSCC(40;0.11)				47			16		0	0	0.008871	0	0
NPY	4852	broad.mit.edu	37	7	24324907	24324907	+	Silent	SNP	G	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:24324907G>T	uc003sww.2	+	1	136	c.48G>T	c.(46-48)ctG>ctT	p.L16L		NM_000905	NP_000896	P01303	NPY_HUMAN	Homo sapiens neuropeptide Y (NPY), mRNA.	16					G-protein signaling, coupled to cyclic nucleotide second messenger|adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	G-protein coupled receptor activity|calcium channel regulator activity|neuropeptide hormone activity	p.L16L(2)		breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CCCTCGCCCTGTCCCTGCTCG	0.657000														42			21		2.32416e-17	2.58873e-17	0.014323	1	0
TTN	7273	broad.mit.edu	37	2	179425011	179425011	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179425011C>T	uc021vsy.1	-	274	78369	c.78144G>A	c.(78142-78144)cgG>cgA	p.R26048R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.R19743R|TTN_uc021vta.1_Silent_p.R19676R|TTN_uc021vtb.1_Silent_p.R19551R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26975	Ig-like 126.						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)			CACATCCTTCCCGAAGTCCTG	0.398000														36			37		0	0	0.007835	0	0
ACSM4	341392	broad.mit.edu	37	12	7463176	7463176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:7463176G>A	uc001qsx.1	+	2	454	c.454G>A	c.(454-456)Gac>Aac	p.D152N		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	152					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						GACAGCAAAAGACATCCTCTA	0.562000														9			7		0	0	0.006214	0	0
MTMR3	8897	broad.mit.edu	37	22	30416441	30416441	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:30416441C>T	uc003agv.4	+	16	3121	c.2793C>T	c.(2791-2793)gcC>gcT	p.A931A	MTMR3_uc003agu.4_Silent_p.A931A|MTMR3_uc003agw.4_Silent_p.A931A	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	931					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GCAATGGTGCCCCAGAGACTG	0.577000														48			32		0	0	0.003271	0	0
GORAB	92344	broad.mit.edu	37	1	170513928	170513928	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:170513928G>A	uc001gha.2	+	3	706	c.679G>A	c.(679-681)Gac>Aac	p.D227N	GORAB_uc001ggz.4_Missense_Mutation_p.D227N|GORAB_uc009wvx.2_Missense_Mutation_p.D47N|GORAB_uc001ghb.2_Missense_Mutation_p.D47N|GORAB_uc001ghc.2_Missense_Mutation_p.D47N|GORAB_uc001ghd.2_Missense_Mutation_p.D20N	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA.	227	Necessary for interaction with RCHY1.					Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GGTGTCAGCTGACATTGGAAT	0.433000														126			62		0	0	0.014410	0	0
DNAH7	56171	broad.mit.edu	37	2	196636518	196636518	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:196636518C>T	uc002utj.4	-	60	11400	c.11299G>A	c.(11299-11301)Gag>Aag	p.E3767K	DNAH7_uc002uti.4_Missense_Mutation_p.E250K	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3767					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						ATGGCAGCCTCGATGTCGAAG	0.453000														122			37		0	0	0.004289	0	0
ADAM19	8728	broad.mit.edu	37	5	156908821	156908821	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:156908821G>A	uc003lwz.3	-	21	2760	c.2681C>T	c.(2680-2682)cCt>cTt	p.P894L	ADAM19_uc003lww.2_Intron|ADAM19_uc003lwy.3_Missense_Mutation_p.P493L|ADAM19_uc021ygq.1_5'Flank|ADAM19_uc011ddr.1_Missense_Mutation_p.P825L	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	894					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)			TGCTGCCAGAGGCCGGGACTG	0.662000														3			5		0	0	0.001168	0	0
NIM1	167359	broad.mit.edu	37	5	43246072	43246072	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:43246072C>T	uc003jno.3	+	1	1076	c.195C>T	c.(193-195)atC>atT	p.I65I		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	Homo sapiens serine/threonine-protein kinase NIM1 (NIM1), mRNA.	65							ATP binding|magnesium ion binding|protein serine/threonine kinase activity										TGAGGGAGATCACGCTGGGGA	0.547000														44			42		0	0	0.008740	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105386875	105386875	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:105386875G>A	uc010qqu.1	-	5	501	c.434C>T	c.(433-435)tCc>tTc	p.S145F	SH3PXD2A_uc010qqr.2_Missense_Mutation_p.S92F|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.S65F|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.S107F|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.S65F|SH3PXD2A_uc001kxj.1_Missense_Mutation_p.S230F	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	230					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)		GTTGATGTCGGAGTCATCCCG	0.607000														45			36		0	0	0.005524	0	0
CTNND2	1501	broad.mit.edu	37	5	10988308	10988308	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:10988308C>T	uc003jfa.1	-	19	3403	c.3258G>A	c.(3256-3258)agG>agA	p.R1086R	CTNND2_uc010itt.2_Silent_p.R995R|CTNND2_uc011cmy.1_Silent_p.R749R|CTNND2_uc011cmz.1_Silent_p.R653R|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.R678R	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	1086					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGTCTGTTTTCCTTTCTTTGA	0.527000											OREG0016517	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		70			28		0	0	0.007291	0	0
PSAP	5660	broad.mit.edu	37	10	73587852	73587852	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:73587852C>T	uc001jsm.3	-	5	743	c.639G>A	c.(637-639)cgG>cgA	p.R213R		NM_002778	NP_002769	P07602	SAP_HUMAN	Homo sapiens prosaposin (PSAP), transcript variant 1, mRNA.	213	Saposin B-type 2.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	Golgi apparatus|extracellular space|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						TGGAGTTGGTCCGTACAGCAG	0.537000														45			50		0	0	0.014410	0	0
CDKAL1	54901	broad.mit.edu	37	6	20758841	20758841	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:20758841C>T	uc003ndd.2	+	6	651	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	CDKAL1_uc003nde.2_Missense_Mutation_p.R92C|CDKAL1_uc021ymk.1_Missense_Mutation_p.R162C	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA.	162	MTTase N-terminal.				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	p.R162C(2)|p.R162P(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GCAGATAGATCGTGTGGTAGA	0.328000														314			73		0	0	0.014410	0	0
CCDC60	160777	broad.mit.edu	37	12	119968818	119968818	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:119968818G>A	uc001txe.3	+	12	1966	c.1501G>A	c.(1501-1503)Gat>Aat	p.D501N	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	501										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GGTGCTGCAGGATCTGAGGAT	0.527000														59			41		0	0	0.013114	0	0
NAT10	55226	broad.mit.edu	37	11	34149087	34149087	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:34149087C>T	uc001mvk.3	+	11	1429	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L	NAT10_uc010ren.2_Silent_p.L323L	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.	395						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CCATCCCCCTCCCCTTGGTGA	0.522000														99			21		0	0	0.002780	0	0
OR51I1	390063	broad.mit.edu	37	11	5462353	5462353	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:5462353G>A	uc010qze.2	-	0	431	c.392C>T	c.(391-393)cCa>cTa	p.P131L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATAGCGTAATGGATAACAAAT	0.483000														50			27		0	0	0.005443	0	0
ZNF486	90649	broad.mit.edu	37	19	20308159	20308159	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:20308159G>A	uc002nou.2	+	3	697	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	Homo sapiens zinc finger protein 486 (ZNF486), mRNA.	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						CAAATGTGAAGAATGTGGCAA	0.373000														24			12		0	0	0.001855	0	0
MYO7B	4648	broad.mit.edu	37	2	128331608	128331608	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:128331608C>T	uc002top.3	+	6	759	c.706C>T	c.(706-708)Ctc>Ttc	p.L236F		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	236	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CGAGCAATTTCTCCTGGAGAA	0.597000														118			30		0	0	0.008740	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375885	93375886	+	Missense_Mutation	DNP	GG	AA	AA	rs139132864	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:93375885_93375886GG>AA	uc022bjs.1	-	0	224_225	c.224_225CC>TT	c.(223-225)tcc>tTT	p.S75F	DIRAS2_uc004aqx.1_Missense_Mutation_p.S75F	NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 2 (DIRAS2), mRNA.	75					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						CTTTGGAGATGGACAGCCGCTG	0.559000														34			35		0	0	0.004672	0	0
PES1	23481	broad.mit.edu	37	22	30984049	30984049	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:30984049G>A	uc003aij.2	-	2	324	c.217C>T	c.(217-219)Ctc>Ttc	p.L73F	PES1_uc003aik.2_Missense_Mutation_p.L73F|PES1_uc003aio.1_5'UTR|PES1_uc003ain.1_5'UTR	NM_014303	NP_055118	O00541	PESC_HUMAN	Homo sapiens pescadillo homolog 1, containing BRCT domain (zebrafish) (PES1), transcript variant 1, mRNA.	73	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	PeBoW complex|chromosome|nucleoplasm|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						TCGTGGAGGAGAAACCTGATG	0.478000														60			43		0	0	0.013114	0	0
SLC9C2	284525	broad.mit.edu	37	1	173526549	173526549	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:173526549C>T	uc001giz.2	-	9	1568	c.1145G>A	c.(1144-1146)gGa>gAa	p.G382E	SLC9C2_uc009wwe.2_5'UTR|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	382					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ATTAAAAACTCCTTTAATTCC	0.363000														114			71		0	0	0.014410	0	0
GRM1	2911	broad.mit.edu	37	6	146351045	146351045	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:146351045G>A	uc010khw.1	+	1	862	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	GRM1_uc010khu.1_Missense_Mutation_p.R131Q|GRM1_uc010khv.1_Missense_Mutation_p.R131Q|GRM1_uc003qll.2_Missense_Mutation_p.R131Q|GRM1_uc011edz.1_Missense_Mutation_p.R131Q|GRM1_uc011eea.1_Missense_Mutation_p.R131Q	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	131					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			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)	ATTTCCATTCGAGATGAGAAG	0.582000														53			41		0	0	0.008740	0	0
CACNA1F	778	broad.mit.edu	37	X	49070637	49070637	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:49070637G>A	uc004dnb.3	-	29	3785	c.3723C>T	c.(3721-3723)atC>atT	p.I1241I	CACNA1F_uc010nip.3_Silent_p.I1230I	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1241					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TGAAGGCGATGATTTTGAGCA	0.542000														11			34		0	0	0.003755	0	0
CLDN1	9076	broad.mit.edu	37	3	190026081	190026081	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:190026081C>T	uc003fsh.3	-	3	861	c.621G>A	c.(619-621)ggG>ggA	p.G207G		NM_021101	NP_066924	O95832	CLD1_HUMAN	Homo sapiens claudin 1 (CLDN1), mRNA.	207					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity	p.G207W(1)		lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		CGTAGTCTTTCCCGCTGGAAG	0.453000														90			51		0	0	0.014410	0	0
DST	667	broad.mit.edu	37	6	56495132	56495132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:56495132G>A	uc003pcy.4	-	16	2689	c.2581C>T	c.(2581-2583)Ctc>Ttc	p.L861F	DST_uc021zay.1_Missense_Mutation_p.L1227F|DST_uc021zax.1_Missense_Mutation_p.L861F|DST_uc003pdc.4_Missense_Mutation_p.L861F|DST_uc003pdd.4_Missense_Mutation_p.L861F	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	1187					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity	p.A860V(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGTTTTACGAGGGCTTCTGCA	0.318000														62			22		0	0	0.012319	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542818	133542818	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:133542818C>T	uc002ttp.3	-	13	1940	c.1566G>A	c.(1564-1566)ctG>ctA	p.L522L	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	522							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						ATGTGCCTTCCAGAAAGTGTT	0.498000														78			65		0	0	0.014410	0	0
KIRREL	55243	broad.mit.edu	37	1	158047787	158047787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:158047787C>T	uc001frn.4	+	2	613	c.209C>T	c.(208-210)cCa>cTa	p.P70L	KIRREL_uc010pib.2_Intron|KIRREL_uc009wsq.3_Missense_Mutation_p.P9L	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	Homo sapiens kin of IRRE like (Drosophila) (KIRREL), mRNA.	70	Ig-like C2-type 1.					integral to membrane		p.T69R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GCAGCCTGGCCACGGTACCGG	0.592000														60			34		0	0	0.006230	0	0
CC2D2A	57545	broad.mit.edu	37	4	15538613	15538613	+	Silent	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:15538613T>C	uc010idv.2	+	15	1923	c.1678T>C	c.(1678-1680)Tta>Cta	p.L560L	CC2D2A_uc003gnx.3_Silent_p.L511L|CC2D2A_uc003gnz.1_Non-coding_Transcript|CC2D2A_uc003goa.1_5'Flank|CC2D2A_uc003gnv.2_Silent_p.L560L	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2A (CC2D2A), transcript variant 1, mRNA.	560					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						AAGTGAACTGTTAGAAGAGCA	0.408000														33			16		0	0	0.003163	0	0
LMOD3	56203	broad.mit.edu	37	3	69168726	69168726	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:69168726C>T	uc003dns.2	-	1	989	c.780G>A	c.(778-780)ctG>ctA	p.L260L	LMOD3_uc003dnt.2_Silent_p.L260L	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	Homo sapiens leiomodin 3 (fetal) (LMOD3), mRNA.	260						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		CAATGTTGTTCAGGTTGAGTT	0.408000														135			71		0	0	0.014410	0	0
SCN7A	6332	broad.mit.edu	37	2	167298103	167298103	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:167298103C>T	uc002udu.2	-	13	2090	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K	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.	654					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						ACAAATTCTTCATAATTCTTA	0.443000														34			19		0	0	0.008871	0	0
NEFM	4741	broad.mit.edu	37	8	24773142	24773142	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:24773142G>A	uc003xed.4	+	1	1138	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	NEFM_uc011lac.1_Missense_Mutation_p.E369K|NEFM_uc010lue.3_5'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	369	Coil 2B.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GCTGGAAAATGAGCTTCGGGG	0.512000														67			32		0	0	0.012213	0	0
NFATC3	4775	broad.mit.edu	37	16	68260301	68260301	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:68260301G>A	uc002evo.2	+	9	3471	c.3155G>A	c.(3154-3156)gGa>gAa	p.G1052E	NFATC3_uc010vkm.2_Missense_Mutation_p.G573E|NFATC3_uc010vkn.2_3'UTR|NFATC3_uc010vkp.2_3'UTR|NFATC3_uc010vkq.2_Missense_Mutation_p.G573E|NFATC3_uc002evm.2_3'UTR|NFATC3_uc002evn.2_3'UTR|NFATC3_uc010vks.2_Missense_Mutation_p.G573E|NFATC3_uc010vkt.2_3'UTR|NFATC3_uc010vkv.2_Missense_Mutation_p.G573E|NFATC3_uc010vkw.2_3'UTR|NFATC3_uc010vky.2_Missense_Mutation_p.G573E|NFATC3_uc010vkz.2_3'UTR|NFATC3_uc010vlb.2_Missense_Mutation_p.G573E|NFATC3_uc010vlc.2_3'UTR	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA.	1052					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	p.E1051Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GTTTCCCAAGGAGCAGGGGTG	0.502000														59			18		0	0	0.012319	0	0
GLYCTK	132158	broad.mit.edu	37	3	52324538	52324538	+	Silent	SNP	C	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:52324538C>A	uc003ddo.3	+	1	276	c.180C>A	c.(178-180)tcC>tcA	p.S60S	GLYCTK_uc003ddq.2_Silent_p.S60S|GLYCTK_uc003ddm.3_Intron|GLYCTK_uc003ddn.3_Non-coding_Transcript|GLYCTK_uc003ddp.1_Silent_p.S60S|GLYCTK_uc003ddr.3_5'Flank	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	Homo sapiens glycerate kinase (GLYCTK), transcript variant 1, mRNA.	60					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		GGGCACTATCCTTGGACCCTG	0.622000														25			15		2.32078e-09	2.56903e-09	0.003163	1	0
C12orf50	160419	broad.mit.edu	37	12	88390364	88390364	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:88390364C>T	uc001tam.1	-	4	517	c.349G>A	c.(349-351)Gag>Aag	p.E117K	C12orf50_uc001tan.3_Missense_Mutation_p.E171K	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	117								p.E117G(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TAACACATCTCCTTTATTGCT	0.284000														32			15		0	0	0.003163	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156928584	156928584	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:156928584G>A	uc001fqo.3	-	15	2372	c.1332C>T	c.(1330-1332)ctC>ctT	p.L444L	ARHGEF11_uc001fqn.3_Silent_p.L484L|ARHGEF11_uc001fqp.1_5'Flank	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	444	RGSL.				G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGCGCTCTCGGAGAGGGTCCC	0.542000														35			18		0	0	0.004990	0	0
HMGCS2	3158	broad.mit.edu	37	1	120307109	120307109	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:120307109C>T	uc001eid.3	-	1	333	c.245G>A	c.(244-246)gGa>gAa	p.G82E	HMGCS2_uc010oxj.2_Missense_Mutation_p.G82E|HMGCS2_uc021osx.1_5'UTR	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	82					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TGTATACTTTCCTGCTTCCAC	0.552000														415			240		0	0	0.014410	0	0
GGT7	2686	broad.mit.edu	37	20	33442402	33442403	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:33442402_33442403GG>AA	uc002xay.3	-	9	1293_1294	c.1250_1251CC>TT	c.(1249-1251)gcc>gTT	p.A417V	GGT7_uc002xaz.1_Missense_Mutation_p.A434V	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	Homo sapiens gamma-glutamyltransferase 7 (GGT7), mRNA.	417					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TGCTGGCCAGGGCTAATGCAAT	0.550000														15			9		0	0	0.004672	0	0
PRMT10	90826	broad.mit.edu	37	4	148575007	148575007	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:148575007A>G	uc003ilc.3	-	8	2183	c.2041T>C	c.(2041-2043)Tcc>Ccc	p.S681P	PRMT10_uc003ilb.3_Missense_Mutation_p.S325P|PRMT10_uc003ild.3_Missense_Mutation_p.S568P	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	Homo sapiens protein arginine methyltransferase 10 (putative) (PRMT10), mRNA.	681						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TTTTACCTGGATATTGCAGCT	0.318000														40			9		0	0	0.006214	0	0
SCEL	8796	broad.mit.edu	37	13	78130048	78130048	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:78130048G>A	uc001vki.3	+	1	208	c.38G>A	c.(37-39)gGa>gAa	p.G13E	SCEL_uc010thx.2_Missense_Mutation_p.G13E|SCEL_uc001vkj.3_Missense_Mutation_p.G13E	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	13					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TCTCCCACAGGAAATGGTAAT	0.348000														51			26		0	0	0.010818	0	0
TTN	7273	broad.mit.edu	37	2	179484483	179484483	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179484483G>A	uc021vsy.1	-	198	39082	c.38857C>T	c.(38857-38859)Cag>Tag	p.Q12953*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Non-coding_Transcript|TTN_uc021vsz.1_Nonsense_Mutation_p.Q6648*|TTN_uc021vta.1_Nonsense_Mutation_p.Q6581*|TTN_uc021vtb.1_Nonsense_Mutation_p.Q6456*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13880	Ig-like 86.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V12952L(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)			TTATCACCCTGGACAACAACC	0.403000														108			76		0	0	0.014410	0	0
PCDHB6	56130	broad.mit.edu	37	5	140529993	140529993	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140529993G>A	uc003lir.3	+	0	155	c.155G>A	c.(154-156)gGa>gAa	p.G52E		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	52	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.L51L(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGGACCTGGGACTGAGGGTG	0.512000														53			41		0	0	0.009718	0	0
MYH2	4620	broad.mit.edu	37	17	10428661	10428661	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:10428661C>T	uc010coi.3	-	32	4670	c.4542G>A	c.(4540-4542)gaG>gaA	p.E1514E	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.E1514E|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.	1514					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.Q1513*(1)		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						GGTCAGAAATCTCCTCTGTTG	0.383000														8			20		0	0	0.012319	0	0
DNAH11	8701	broad.mit.edu	37	7	21678570	21678570	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:21678570G>A	uc003svc.3	+	27	4877	c.4846G>A	c.(4846-4848)Gaa>Aaa	p.E1616K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1616	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTCTCTTTGTGAAAAAGCTCT	0.398000									Kartagener syndrome					69			35		0	0	0.003271	0	0
SOBP	55084	broad.mit.edu	37	6	107955595	107955595	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:107955595C>T	uc003prx.3	+	5	2051	c.1547C>T	c.(1546-1548)cCg>cTg	p.P516L		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	Homo sapiens sine oculis binding protein homolog (Drosophila) (SOBP), mRNA.	516	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TCGCTTGCCCCGCTGGTGCCG	0.677000														2			4		0	0	0.000602	0	0
SRY	6736	broad.mit.edu	37	Y	2655550	2655550	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrY:2655550G>A	uc004fqg.1	-	0	243	c.95C>T	c.(94-96)tCt>tTt	p.S32F		NM_003140	NP_003131	Q05066	SRY_HUMAN	Homo sapiens sex determining region Y (SRY), mRNA.	32					cell differentiation|male sex determination|positive regulation of transcription, DNA-dependent|sex differentiation	cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(1)|prostate(1)	2						AAGGAAGGAAGAGCTTCTCCG	0.448000									Swyer syndrome					15			32		0	0	0.010818	0	0
OR4C13	283092	broad.mit.edu	37	11	49974126	49974126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:49974126C>T	uc010rhz.2	+	0	184	c.152C>T	c.(151-153)cCa>cTa	p.P51L		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ACTGCCAGCCCATCACTGAGA	0.428000														149			47		0	0	0.014410	0	0
ZNF582	147948	broad.mit.edu	37	19	56896388	56896388	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:56896388C>T	uc002qmy.3	-	4	784	c.491G>A	c.(490-492)gGa>gAa	p.G164E	ZNF582_uc002qmz.1_Missense_Mutation_p.G133E	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	Homo sapiens zinc finger protein 582 (ZNF582), mRNA.	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G133E(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GTCTGGATTTCCCTGTTGTCT	0.403000														76			42		0	0	0.008740	0	0
UBFD1	56061	broad.mit.edu	37	16	23581893	23581893	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:23581893G>A	uc002dlv.3	+	6	1114	c.912G>A	c.(910-912)ggG>ggA	p.G304G	UBFD1_uc021tfg.1_5'Flank	NM_019116	NP_061989	O14562	UBFD1_HUMAN	Homo sapiens ubiquitin family domain containing 1 (UBFD1), mRNA.	304										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		CTGTGCTGGGGAAATGGCAGT	0.522000														78			15		0	0	0.006122	0	0
KCNQ3	3786	broad.mit.edu	37	8	133150230	133150230	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:133150230G>A	uc003ytj.3	-	11	1827	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F	KCNQ3_uc003yti.3_Silent_p.F414F|KCNQ3_uc010mdt.3_Silent_p.F534F	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	534					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.F534I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AAGTCTCCTTGAATTTTTTTT	0.453000														57			52		0	0	0.014410	0	0
ZNF479	90827	broad.mit.edu	37	7	57200000	57200000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:57200000C>T	uc010kzo.3	-	1	303	c.32G>A	c.(31-33)cGa>cAa	p.R11Q		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CACCATTTCTCGGCTTCCAGG	0.552000														42			18		0	0	0.012319	0	0
FAM117B	150864	broad.mit.edu	37	2	203560658	203560658	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:203560658C>T	uc010zhx.2	+	1	666	c.656C>T	c.(655-657)tCc>tTc	p.S219F	FAM117B_uc010zhw.2_Missense_Mutation_p.S219F	NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	219										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						CGACGCACTTCCTCCCTGGAT	0.468000														135			126		0	0	0.014410	0	0
PDE8B	8622	broad.mit.edu	37	5	76709015	76709015	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:76709015C>T	uc003kfa.3	+	16	1837	c.1792C>T	c.(1792-1794)Cgg>Tgg	p.R598W	PDE8B_uc003kfd.3_Missense_Mutation_p.R551W|PDE8B_uc003kfe.3_Missense_Mutation_p.R501W|PDE8B_uc003kfb.3_Missense_Mutation_p.R578W|PDE8B_uc003kfc.3_Missense_Mutation_p.R543W	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	598	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	p.R598L(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		AACCACTCTTCGGGCCTGGTT	0.483000														393			226		0	0	0.014410	0	0
PF4	5196	broad.mit.edu	37	4	74847220	74847220	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:74847220C>T	uc003hhi.2	-	1	177	c.132G>A	c.(130-132)gtG>gtA	p.V44V		NM_002619	NP_002610	P02776	PLF4_HUMAN	Homo sapiens platelet factor 4 (PF4), mRNA.	44					cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of MHC class II biosynthetic process|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production	extracellular space|platelet alpha granule lumen	chemokine activity|heparin binding			kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	AGGTGGTCTTCACACACAGGC	0.602000														19			10		0	0	0.013537	0	0
MYH6	4624	broad.mit.edu	37	14	23866401	23866401	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:23866401G>A	uc001wjv.3	-	16	2099	c.2028C>T	c.(2026-2028)atC>atT	p.I676I		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	676	Actin-binding.|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)		GCTCATTGGGGATGATGCAAC	0.552000														120			53		0	0	0.014410	0	0
BRDT	676	broad.mit.edu	37	1	92470105	92470105	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:92470105G>A	uc001dol.4	+	17	2941	c.2523G>A	c.(2521-2523)cgG>cgA	p.R841R	BRDT_uc010osz.2_Silent_p.R845R|BRDT_uc001dok.4_Silent_p.R841R|BRDT_uc009wdf.3_Silent_p.R768R|BRDT_uc010otb.2_Silent_p.R795R|BRDT_uc010ota.2_Silent_p.R795R|BRDT_uc001dom.4_Silent_p.R841R	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	841					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.R841R(4)|p.R841M(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TAAAAGCTCGGACACAGGAAC	0.388000														76			36		0	0	0.004878	0	0
PIGT	51604	broad.mit.edu	37	20	44047558	44047558	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:44047558C>T	uc002xoh.2	+	2	522	c.432C>T	c.(430-432)ttC>ttT	p.F144F	PIGT_uc010ghb.2_Silent_p.F134F|PIGT_uc010zwt.2_Intron|PIGT_uc010ghd.2_Missense_Mutation_p.S85L|PIGT_uc010ghc.2_Intron|PIGT_uc010ghe.2_Intron|PIGT_uc010ghf.2_Missense_Mutation_p.S131L|PIGT_uc010zwz.2_Intron|PIGT_uc010zww.2_Intron|PIGT_uc010zwy.2_Intron|PIGT_uc002xoj.2_Silent_p.F144F|PIGT_uc010zwu.2_5'UTR|PIGT_uc002xoi.2_Non-coding_Transcript|PIGT_uc010zwv.2_5'UTR|PIGT_uc010zwx.2_Missense_Mutation_p.S13L|PIGT_uc010zxa.2_Intron|PIGT_uc002xol.1_5'UTR|PIGT_uc010zxb.1_5'Flank	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class T (PIGT), transcript variant 1, mRNA.	144					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CTCTCAACTTCATCGACTCCA	0.512000														74			54		0	0	0.014410	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46012327	46012327	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr21:46012327C>T	uc002zfm.3	-	0	60	c.39G>A	c.(37-39)ctG>ctA	p.L13L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA.	13						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						TGCCGTAGCTCAGGTCGCTGG	0.652000														14			18		0	0	0.014323	0	0
ITGA4	3676	broad.mit.edu	37	2	182340015	182340015	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:182340015G>A	uc002unu.3	+	4	1319	c.556_splice	c.e4+1	p.D186_splice	ITGA4_uc010zfl.1_Splice_Site_p.D186_splice	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	186					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)	GTGTTATCAAGGTAAGGCATG	0.358000														51			51		0	0	0.014410	0	0
SULT1E1	6783	broad.mit.edu	37	4	70709918	70709918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:70709918C>T	uc003heo.3	-	6	846	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K		NM_005420	NP_005411	P49888	ST1E1_HUMAN	Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA.	245					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TTCATAATTTCGTCTGGCAGT	0.428000														106			46		0	0	0.014410	0	0
NYAP2	57624	broad.mit.edu	37	2	226447051	226447051	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:226447051C>T	uc002voe.2	+	3	1093	c.918C>T	c.(916-918)ttC>ttT	p.F306F	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Silent_p.F76F	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	306																	ACTTGGACTTCGCCAAGGCCT	0.587000														48			11		0	0	0.008291	0	0
SELP	6403	broad.mit.edu	37	1	169586609	169586609	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:169586609G>A	uc001ggi.4	-	2	203	c.138C>T	c.(136-138)taC>taT	p.Y46Y	SELP_uc001ggh.3_5'UTR|SELP_uc009wvr.3_Silent_p.Y46Y	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	46					platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CTTTTGTGCTGTAATGATAAG	0.418000														70			32		0	0	0.003755	0	0
DSG3	1830	broad.mit.edu	37	18	29045359	29045359	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:29045359G>A	uc002kws.3	+	9	1459	c.1350G>A	c.(1348-1350)atG>atA	p.M450I		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	450	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCAAAAATATGAACCGAGATT	0.313000														52			15		0	0	0.002450	0	0
LRP1B	53353	broad.mit.edu	37	2	141607744	141607744	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:141607744C>T	uc002tvj.1	-	28	5838	c.4866G>A	c.(4864-4866)tgG>tgA	p.W1622*	LRP1B_uc010fnl.1_Nonsense_Mutation_p.W804*	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1622					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)		TAATATCTGTCCAGTATAAAC	0.353000										TSP Lung(27;0.18)				65			17		0	0	0.007413	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770483	31770483	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:31770483C>A	uc002nsy.4	-	1	281	c.216G>T	c.(214-216)atG>atT	p.M72I		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	72					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ACTCGCTGTCCATTTCATGGC	0.597000														19			13		2.32078e-09	2.56903e-09	0.003163	1	0
ZNF441	126068	broad.mit.edu	37	19	11892195	11892195	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:11892195G>A	uc010dyj.3	+	3	1750	c.1556G>A	c.(1555-1557)cGa>cAa	p.R519Q	ZNF441_uc002msn.4_Missense_Mutation_p.R475Q	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	Homo sapiens zinc finger protein 441 (ZNF441), mRNA.	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGTTCATTTCGAAGACATGAA	0.403000														18			14		0	0	0.003163	0	0
PARP9	83666	broad.mit.edu	37	3	122255868	122255868	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:122255868G>A	uc010hri.3	-	8	2068	c.1923C>T	c.(1921-1923)atC>atT	p.I641I	PARP9_uc003eff.4_Silent_p.I606I|PARP9_uc011bjs.2_Silent_p.I606I|PARP9_uc003efg.3_Silent_p.I186I|PARP9_uc003efi.3_Silent_p.I606I|PARP9_uc003efh.3_Silent_p.I641I|PARP9_uc003efj.2_Silent_p.I606I	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.	641	PARP catalytic.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TCAGAAATATGATATTTTCTT	0.353000														55			47		0	0	0.014410	0	0
OR7G2	390882	broad.mit.edu	37	19	9212964	9212964	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9212964C>T	uc010xkk.2	-	0	1019	c.1019G>A	c.(1018-1020)gGa>gAa	p.G340E		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						AAACCTGAATCCAAAGCAAAT	0.408000														39			20		0	0	0.014323	0	0
PLAC8L1	153770	broad.mit.edu	37	5	145464078	145464078	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:145464078G>A	uc003lnv.3	-	3	523	c.451C>T	c.(451-453)Cag>Tag	p.Q151*	PLAC8L1_uc021yfd.1_Non-coding_Transcript|PLAC8L1_uc011dbp.2_Non-coding_Transcript	NM_001029869	NP_001025040	A1L4L8	PL8L1_HUMAN	Homo sapiens PLAC8-like 1 (PLAC8L1), mRNA.	151										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGGCCACCTGGCAGATGGAA	0.527000														89			43		0	0	0.007835	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324085	61324085	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:61324085C>T	uc002lji.3	-	6	892	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	SERPINB3_uc002ljg.3_Missense_Mutation_p.E250K|SERPINB3_uc010dqa.3_Intron	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	250					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CCATCGATTTCATTTGGCAGC	0.413000														34			45		0	0	0.014410	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140166766	140166766	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140166766C>T	uc003lhb.2	+	0	891	c.891C>T	c.(889-891)tcC>tcT	p.S297S	PCDHAC2_uc003lha.2_Silent_p.S297S|PCDHAC2_uc003lgz.3_Silent_p.S297S	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), 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)			AAGTTGATTCCAGCTCAGGAG	0.368000														55			13		0	0	0.001855	0	0
ANK3	288	broad.mit.edu	37	10	61833636	61833636	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:61833636C>T	uc001jky.3	-	36	7341	c.7003G>A	c.(7003-7005)Gaa>Aaa	p.E2335K	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.	2335					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						TTACCTTTTTCGATGTGGACT	0.428000														90			31		0	0	0.008361	0	0
GPR179	440435	broad.mit.edu	37	17	36499507	36499507	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:36499507C>T	uc002hpz.3	-	0	187	c.166G>A	c.(166-168)Gcc>Acc	p.A56T		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	56						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GCGGCCTCGGCCCCCTCTAGG	0.637000														51			15		0	0	0.003163	0	0
HERC1	8925	broad.mit.edu	37	15	63904509	63904509	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:63904509G>A	uc002amp.3	-	76	14489	c.14341C>T	c.(14341-14343)Cga>Tga	p.R4781*	HERC1_uc002amo.3_5'Flank	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.	4781	HECT.				protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity	p.S4780F(1)		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						GCTGGTAGTCGAGATCTTCCT	0.458000														21			17		0	0	0.004990	0	0
THEMIS	387357	broad.mit.edu	37	6	128150819	128150819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:128150819C>T	uc011ebt.2	-	2	660	c.511G>A	c.(511-513)Gga>Aga	p.G171R	THEMIS_uc010kfa.3_Missense_Mutation_p.G74R|THEMIS_uc021zfa.1_Missense_Mutation_p.G171R|THEMIS_uc010kfb.3_Missense_Mutation_p.G136R	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	171	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TAGAATTCTCCTTCTTGTGAC	0.378000														79			39		0	0	0.005524	0	0
FOSL2	2355	broad.mit.edu	37	2	28627159	28627159	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:28627159C>T	uc002rma.3	+	1	1097	c.288C>T	c.(286-288)gcC>gcT	p.A96A	FOSL2_uc021vfg.1_Silent_p.A71A|FOSL2_uc010ymi.2_Silent_p.A57A	NM_005253	NP_005244	P15408	FOSL2_HUMAN	Homo sapiens FOS-like antigen 2 (FOSL2), mRNA.	96					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					GACACATGGCCCTCCCAAGAC	0.637000														85			32		0	0	0.005524	0	0
BOD1L1	259282	broad.mit.edu	37	4	13604873	13604873	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:13604873G>A	uc003gmz.1	-	9	3768	c.3651C>T	c.(3649-3651)aaC>aaT	p.N1217N	BOD1L1_uc010idr.1_Silent_p.N554N	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	1217							DNA binding										TCTCCCCAGGGTTCATTTTGG	0.398000														157			86		0	0	0.014410	0	0
PEAR1	375033	broad.mit.edu	37	1	156882722	156882722	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:156882722G>A	uc001fqj.1	+	17	2486	c.2370G>A	c.(2368-2370)ctG>ctA	p.L790L	PEAR1_uc001fqk.1_Silent_p.L415L	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	790						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACCACCACCTGGCTGTGGCTT	0.612000														52			40		0	0	0.011902	0	0
TDGF1	6997	broad.mit.edu	37	3	46620795	46620795	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:46620795G>A	uc003cpv.3	+	2	546	c.162G>A	c.(160-162)caG>caA	p.Q54Q	LRRC2_uc003cpu.4_Intron|TDGF1_uc021wxd.1_Silent_p.Q38Q	NM_003212	NP_001167607	P13385	TDGF1_HUMAN	Homo sapiens teratocarcinoma-derived growth factor 1 (TDGF1), transcript variant 1, mRNA.	54					activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TTTGGCCCCAGGAGGAGCCTG	0.562000														38			18		0	0	0.008871	0	0
ZNF99	7652	broad.mit.edu	37	19	22941052	22941052	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:22941052C>T	uc021urt.1	-	3	1814	c.1659G>A	c.(1657-1659)atG>atA	p.M553I		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTTATGTTTCATAAGGGTTG	0.333000														22			12		0	0	0.010729	0	0
PEG10	23089	broad.mit.edu	37	7	94293171	94293171	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:94293171G>A	uc003uno.3	+	1	782	c.303G>A	c.(301-303)caG>caA	p.Q101Q	PEG10_uc011kie.2_Silent_p.Q177Q|PEG10_uc022ahn.1_Silent_p.Q101Q	NM_015068	NP_055883	Q86TG7	PEG10_HUMAN	Homo sapiens paternally expressed 10 (PEG10), transcript variant 1, mRNA.	101	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CCCAGTGCCAGATCTTCATGG	0.572000														34			21		0	0	0.012319	0	0
MYH4	4622	broad.mit.edu	37	17	10356592	10356592	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:10356592C>T	uc002gmn.3	-	23	3099	c.2988G>A	c.(2986-2988)ctG>ctA	p.L996L	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	996					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTCCTTGGTCAGCTTAGCAA	0.478000														61			74		0	0	0.014410	0	0
CPA6	57094	broad.mit.edu	37	8	68346349	68346349	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:68346349G>A	uc003xxq.4	-	8	1221	c.965C>T	c.(964-966)tCc>tTc	p.S322F	CPA6_uc003xxr.4_Intron	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	322					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)			TGCATGAAAGGAGAGATAAGC	0.413000														47			32		0	0	0.012213	0	0
ISX	91464	broad.mit.edu	37	22	35463124	35463124	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:35463124G>A	uc003anj.3	+	0	995	c.44G>A	c.(43-45)aGa>aAa	p.R15K		NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	Homo sapiens intestine-specific homeobox (ISX), mRNA.	15						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GGTATGGAGAGAAATAGCTTG	0.592000														25			10		0	0	0.008291	0	0
DCC	1630	broad.mit.edu	37	18	50866254	50866254	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:50866254G>A	uc002lfe.2	+	14	2952	c.2336G>A	c.(2335-2337)cGa>cAa	p.R779Q	DCC_uc010xdr.1_Missense_Mutation_p.R627Q|DCC_uc010dpf.2_Missense_Mutation_p.R434Q	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	779	Fibronectin type-III 4.				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)		AGCAAGCAGCGATATTATTCC	0.398000														30			7		0	0	0.001984	0	0
NCAPD3	23310	broad.mit.edu	37	11	134027867	134027867	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:134027867G>A	uc001qhd.1	-	30	4736	c.4130C>T	c.(4129-4131)cCt>cTt	p.P1377L	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript|AK095267_uc021qsm.1_5'Flank	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	1377					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)		TAAAGTGAAAGGCAGCACTCC	0.483000														60			83		0	0	0.014410	0	0
MED12L	116931	broad.mit.edu	37	3	151105621	151105621	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:151105621G>A	uc003eyp.3	+	34	5136	c.5007G>A	c.(5005-5007)caG>caA	p.Q1669Q	MED12L_uc011bnz.2_Silent_p.Q1529Q|MED12L_uc003eyy.1_Silent_p.Q832Q	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1669					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)			CTACGAAGCAGAAGGTGTCCC	0.522000														55			35		0	0	0.006999	0	0
SLC12A1	6557	broad.mit.edu	37	15	48513143	48513143	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:48513143G>A	uc001zwn.4	+	3	794	c.578G>A	c.(577-579)gGa>gAa	p.G193E	SLC12A1_uc010uew.1_5'UTR|SLC12A1_uc010bem.3_Missense_Mutation_p.G193E|SLC12A1_uc010uex.2_Missense_Mutation_p.G193E|SLC12A1_uc001zwq.4_5'Flank	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	193					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AACATCTGGGGAGTCATGCTC	0.433000														81			50		0	0	0.014410	0	0
OR8H3	390152	broad.mit.edu	37	11	55889898	55889898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:55889898G>A	uc001nii.1	+	0	50	c.50G>A	c.(49-51)gGa>gAa	p.G17E		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T16M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ATCCTTACGGGACTGTCAGAC	0.443000														56			41		0	0	0.007835	0	0
DNAH8	1769	broad.mit.edu	37	6	38802367	38802367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:38802367G>A	uc021yzh.1	+	31	4424	c.4315G>A	c.(4315-4317)Gtt>Att	p.V1439I	DNAH8_uc003ooe.2_Missense_Mutation_p.V1222I	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						AGGACCTATGGTTCCAAATAT	0.308000														58			33		0	0	0.006999	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560283	44560283	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:44560283C>T	uc002lcr.1	-	0	1706	c.1353G>A	c.(1351-1353)ccG>ccA	p.P451P	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	451					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCACCGTTTTCGGCCCGGCGG	0.602000														62			26		0	0	0.008361	0	0
CENPV	201161	broad.mit.edu	37	17	16256435	16256435	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:16256435G>A	uc002gpw.3	-	0	378	c.316C>T	c.(316-318)Ctg>Ttg	p.L106L		NM_181716	NP_859067	Q7Z7K6	CENPV_HUMAN	Homo sapiens centromere protein V (CENPV), mRNA.	109					cell division|centromeric heterochromatin formation|mitosis|positive regulation of cytokinesis|regulation of chromosome organization	condensed chromosome kinetochore|cytoplasm|nucleus|spindle midzone	carbon-sulfur lyase activity			endometrium(1)|large_intestine(2)	3						CCCAGGTCCAGGTTGGACGCC	0.731000														17			3		0	0	0.009096	0	0
TG	7038	broad.mit.edu	37	8	134042139	134042139	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:134042139C>T	uc003ytw.3	+	40	7151	c.7110C>T	c.(7108-7110)atC>atT	p.I2370I	TG_uc010mdw.3_Silent_p.I1129I|TG_uc011ljb.2_Silent_p.I739I|TG_uc011ljc.2_Silent_p.I503I	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2370					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGACCCACATCCGAGGATTTG	0.642000														31			8		0	0	0.004482	0	0
SLC13A3	64849	broad.mit.edu	37	20	45216772	45216772	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:45216772G>A	uc002xsf.2	-	7	1087	c.1047C>T	c.(1045-1047)ttC>ttT	p.F349F	SLC13A3_uc010ghn.2_Silent_p.F318F|SLC13A3_uc010zxx.2_Silent_p.F251F|SLC13A3_uc010zxw.2_Silent_p.F299F|SLC13A3_uc002xsg.2_Silent_p.F302F|SLC13A3_uc010gho.2_Intron	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	349						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	p.F349F(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CAAACATGCAGAAAAGGATGA	0.592000														60			11		0	0	0.001855	0	0
OR4D9	390199	broad.mit.edu	37	11	59283314	59283314	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:59283314G>A	uc010rkv.2	+	0	929	c.929G>A	c.(928-930)aGg>aAg	p.R310K		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E309Q(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CAATCAGAAAGGATTTTAATT	0.378000														27			10		0	0	0.008291	0	0
TRIM24	8805	broad.mit.edu	37	7	138263977	138263977	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:138263977C>T	uc003vuc.3	+	14	2500	c.2285C>T	c.(2284-2286)tCc>tTc	p.S762F	TRIM24_uc003vub.3_Missense_Mutation_p.S728F	NM_015905	NP_056989	O15164	TIF1A_HUMAN	Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.	762	Nuclear receptor binding site (NRBS).		S -> N.		cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						ATACTCACCTCCCTGCTCTTA	0.393000														78			37		0	0	0.004878	0	0
FOLR1	2348	broad.mit.edu	37	11	71903380	71903380	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:71903380G>A	uc001orz.2	+	2	439	c.163G>A	c.(163-165)Gag>Aag	p.E55K	FOLR1_uc001osa.2_Missense_Mutation_p.E55K|FOLR1_uc001osb.2_Missense_Mutation_p.E55K|FOLR1_uc001osd.2_Missense_Mutation_p.E55K	NM_016724	NP_057941	P15328	FOLR1_HUMAN	Homo sapiens folate receptor 1 (adult) (FOLR1), transcript variant 7, mRNA.	55					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						CAAGTTGCATGAGCAGGTGGG	0.562000														140			36		0	0	0.006230	0	0
FAM160B1	57700	broad.mit.edu	37	10	116620595	116620595	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:116620595C>T	uc001lcb.3	+	14	2370	c.2035C>T	c.(2035-2037)Cct>Tct	p.P679S	FAM160B1_uc001lcc.3_Missense_Mutation_p.P679S	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	Homo sapiens family with sequence similarity 160, member B1 (FAM160B1), transcript variant 1, mRNA.	679										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						CCTTTTGGATCCTTACGTGAA	0.418000														125			30		0	0	0.012213	0	0
C1S	716	broad.mit.edu	37	12	7171668	7171668	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:7171668C>T	uc001qsj.3	+	7	1208	c.489C>T	c.(487-489)ttC>ttT	p.F163F	C1S_uc001qsk.3_Silent_p.F163F|C1S_uc001qsl.3_Silent_p.F163F|C1S_uc009zfr.3_5'UTR|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	163	EGF-like; calcium-binding.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	CGGAATATTTCCTCCATGATG	0.463000														54			38		0	0	0.006999	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179548090	179548090	+	Silent	SNP	C	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:179548090C>G	uc003mlq.3	-	5	1071	c.774G>C	c.(772-774)ctG>ctC	p.L258L	RASGEF1C_uc003mlr.3_Silent_p.L258L|RASGEF1C_uc003mlp.4_Silent_p.L107L	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	Homo sapiens RasGEF domain family, member 1C (RASGEF1C), mRNA.	258	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGGTAGCACAGCCTGTTGA	0.582000														42			9		0	0	0.006214	0	0
MYH1	4619	broad.mit.edu	37	17	10408589	10408589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:10408589G>A	uc002gmo.3	-	20	2420	c.2326C>T	c.(2326-2328)Ctc>Ttc	p.L776F	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	776	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						TCCTCTAGGAGCCCCAGAAGA	0.473000														26			31		0	0	0.012213	0	0
TEP1	7011	broad.mit.edu	37	14	20872010	20872010	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:20872010G>A	uc001vxe.3	-	5	1106	c.1066C>T	c.(1066-1068)Ccc>Tcc	p.P356S	TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Intron	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	356	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCGGGCAGGGGCACCAGCTTA	0.537000														98			62		0	0	0.014410	0	0
FAM179A	165186	broad.mit.edu	37	2	29245104	29245104	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:29245104G>A	uc010ezl.3	+	10	1792	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K	FAM179A_uc010ymm.2_Missense_Mutation_p.E426K|FAM179A_uc002rmr.4_Missense_Mutation_p.E8K	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	481							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGCCTGTAAGGAGTTGAGGCC	0.537000														42			24		0	0	0.004656	0	0
FRAS1	80144	broad.mit.edu	37	4	79369340	79369340	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:79369340C>T	uc003hlb.2	+	43	6584	c.6144C>T	c.(6142-6144)gtC>gtT	p.V2048V		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2047					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						CTGGCATGGTCGTGGATGAGT	0.542000														39			21		0	0	0.004656	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43750291	43750291	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:43750291G>A	uc010skx.2	-	37	5639	c.5639C>T	c.(5638-5640)tCa>tTa	p.S1880L		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1880	GON.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACTTACCTCTGATCTTCGTAT	0.408000														11			9		0	0	0.006214	0	0
KIF18B	146909	broad.mit.edu	37	17	43011361	43011361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:43011361G>A	uc010wji.2	-	6	1093	c.992C>T	c.(991-993)tCc>tTc	p.S331F	KIF18B_uc002iht.3_Missense_Mutation_p.S331F|KIF18B_uc010wjh.2_Missense_Mutation_p.S331F	NM_001080443	NP_001073912			Homo sapiens kinesin family member 18B (KIF18B), mRNA.											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GGTCAGGCTGGAGGGGCTGAT	0.632000														21			6		0	0	0.001168	0	0
SATB2	23314	broad.mit.edu	37	2	200137114	200137114	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:200137114C>T	uc002uuy.2	-	10	2839	c.2022G>A	c.(2020-2022)ggG>ggA	p.G674G	SATB2_uc010fsq.2_Silent_p.G556G|SATB2_uc002uva.2_Silent_p.G674G|SATB2_uc002uuz.2_Silent_p.G674G	NM_001172509	NP_056080	Q9UPW6	SATB2_HUMAN	Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA.	674						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTTTCAGCTTCCCGTGGTGCT	0.577000														51			65		0	0	0.014410	0	0
SMARCA4	6597	broad.mit.edu	37	19	11097073	11097073	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:11097073G>A	uc010dxp.3	+	4	924	c.564G>A	c.(562-564)aaG>aaA	p.K188K	SMARCA4_uc010dxo.3_Silent_p.K188K|SMARCA4_uc002mqf.4_Silent_p.K188K|SMARCA4_uc002mqg.1_Silent_p.K188K|SMARCA4_uc010dxq.3_Silent_p.K188K|SMARCA4_uc010dxr.3_Silent_p.K188K|SMARCA4_uc002mqj.4_Silent_p.K188K|SMARCA4_uc010dxs.3_Silent_p.K188K|SMARCA4_uc002mqe.2_Silent_p.K188K	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.	188	Necessary for interaction with SS18L1/CREST (By similarity).				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)				TGGCCTACAAGATGCTGGCCA	0.652000			"""F, N, Mis"""		NSCLC									10			3		0	0	0.004672	0	0
SF3B4	10262	broad.mit.edu	37	1	149895501	149895501	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:149895501G>A	uc001etk.2	-	5	1701	c.1208C>T	c.(1207-1209)cCa>cTa	p.P403L		NM_005850	NP_005841	Q15427	SF3B4_HUMAN	Homo sapiens splicing factor 3b, subunit 4, 49kDa (SF3B4), mRNA.	403						U12-type spliceosomal complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|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)			GGGTCTGGGTGGAGGGAGAGG	0.622000														16			14		0	0	0.004007	0	0
DNAH8	1769	broad.mit.edu	37	6	38749036	38749036	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:38749036C>T	uc021yzh.1	+	15	2255	c.2146C>T	c.(2146-2148)Cat>Tat	p.H716Y	DNAH8_uc003ooe.2_Missense_Mutation_p.H499Y	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						ACAGCTTTATCATTCTCAGAA	0.378000														39			21		0	0	0.003330	0	0
SLC15A3	51296	broad.mit.edu	37	11	60714282	60714282	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:60714282G>A	uc001nqn.2	-	1	804	c.570C>T	c.(568-570)ctC>ctT	p.L190L	SLC15A3_uc001nqo.2_Silent_p.L190L	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	Homo sapiens solute carrier family 15, member 3 (SLC15A3), transcript variant 1, mRNA.	190					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						CGTCGCGGCCGAGATCCATCA	0.587000														59			51		0	0	0.014410	0	0
C10orf118	55088	broad.mit.edu	37	10	115895958	115895958	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:115895958G>A	uc001lbb.1	-	7	2026	c.1374C>T	c.(1372-1374)gtC>gtT	p.V458V	C10orf118_uc009xyd.1_Silent_p.V56V|C10orf118_uc009xye.1_Non-coding_Transcript|C10orf118_uc001lbc.1_Silent_p.V458V	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	Homo sapiens chromosome 10 open reading frame 118 (C10orf118), mRNA.	458										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		CTCCTTTTGTGACTCTAAGCT	0.328000														50			11		0	0	0.001855	0	0
CASS4	57091	broad.mit.edu	37	20	55027537	55027537	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:55027537G>A	uc002xxp.2	+	5	1530	c.1305G>A	c.(1303-1305)ttG>ttA	p.L435L	CASS4_uc002xxq.4_Silent_p.L435L|CASS4_uc010zze.1_Silent_p.L381L|CASS4_uc002xxr.2_Silent_p.L435L|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	435					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						AGCTCTCCTTGGACCTGGATG	0.572000														23			12		0	0	0.013537	0	0
NLRP10	338322	broad.mit.edu	37	11	7981544	7981544	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:7981544G>A	uc001mfv.1	-	1	1632	c.1615C>T	c.(1615-1617)Ccc>Tcc	p.P539S		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	539							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTAAACAGGGAGAAATTCTG	0.418000														52			18		0	0	0.004990	0	0
C15orf33	196951	broad.mit.edu	37	15	49882087	49882087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:49882087G>A	uc001zxl.2	-	3	517	c.223C>T	c.(223-225)Cct>Tct	p.P75S	C15orf33_uc001zxm.3_Missense_Mutation_p.P75S	NM_152647	NP_689860	Q96M60	CO033_HUMAN	Homo sapiens chromosome 15 open reading frame 33 (C15orf33), mRNA.	75										endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	25		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		AATATTCGAGGAACATTTTCC	0.294000														62			16		0	0	0.004007	0	0
LMAN1	3998	broad.mit.edu	37	18	57014785	57014785	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:57014785G>A	uc002lhz.3	-	6	814	c.782C>T	c.(781-783)tCt>tTt	p.S261F		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	261	L-type lectin-like.				ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	AGTCAGAAAAGAAAGGACATC	0.289000														12			19		0	0	0.010504	0	0
VEGFC	7424	broad.mit.edu	37	4	177608341	177608341	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:177608341C>T	uc003ius.1	-	6	1575	c.1145_splice	c.e6+1	p.S382_splice		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	382					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GATCTCTTACCTGCATGTTTG	0.348000														87			64		0	0	0.014410	0	0
SPTA1	6708	broad.mit.edu	37	1	158592810	158592810	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:158592810C>T	uc001fst.1	-	42	6282	c.6083G>A	c.(6082-6084)aGa>aAa	p.R2028K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2028					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.H2027H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAATTTCTGTCTGTGGACTGC	0.458000														140			83		0	0	0.014410	0	0
VSTM1	284415	broad.mit.edu	37	19	54561757	54561757	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:54561757G>A	uc002qcw.4	-	2	334	c.158C>T	c.(157-159)tCc>tTc	p.S53F	VSTM1_uc021vbe.1_Non-coding_Transcript|VSTM1_uc021vbf.1_Intron|VSTM1_uc002qcx.4_Missense_Mutation_p.S53F|VSTM1_uc010erb.3_Non-coding_Transcript|VSTM1_uc021vbg.1_Intron	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA.	53	Ig-like V-type.					integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		CACATTCTGGGAATGAGCCTG	0.557000														124			27		0	0	0.007291	0	0
PHACTR1	221692	broad.mit.edu	37	6	13228132	13228133	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:13228132_13228133GG>AA	uc003nah.2	+	8	1444_1445	c.1071_1072GG>AA	c.(1069-1074)atgggc>atAAgc	p.357_358MG>IS	PHACTR1_uc011dir.2_Missense_Mutation_p.426_427MG>IS|PHACTR1_uc010jpc.3_Missense_Mutation_p.357_358MG>IS|PHACTR1_uc003nag.2_Missense_Mutation_p.357_358MG>IS	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.	357						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CAGGACCTATGGGCCTTCCAGA	0.485000														466			252		0	0	0.004672	0	0
ZMYM1	79830	broad.mit.edu	37	1	35580054	35580054	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:35580054C>T	uc001bym.3	+	9	2769	c.2623C>T	c.(2623-2625)Ctt>Ttt	p.L875F	ZMYM1_uc001byn.3_Missense_Mutation_p.L875F|ZMYM1_uc010ohu.2_Missense_Mutation_p.L856F|ZMYM1_uc001byo.3_Missense_Mutation_p.L515F|ZMYM1_uc009vut.3_Missense_Mutation_p.L800F	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.	875						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TACAGGAATTCTTTCCAAAGA	0.318000														33			8		0	0	0.003080	0	0
OR11H6	122748	broad.mit.edu	37	14	20692516	20692516	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:20692516C>T	uc010tlc.2	+	0	648	c.648C>T	c.(646-648)atC>atT	p.I216I		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CTGAGCTTATCTGTTACACCT	0.502000														24			19		0	0	0.003954	0	0
RP1	6101	broad.mit.edu	37	8	55533846	55533846	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:55533846C>T	uc003xsd.1	+	1	468	c.320C>T	c.(319-321)tCc>tTc	p.S107F	RP1_uc011ldy.1_Missense_Mutation_p.S107F	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	107	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TACCTATGTTCCCACGGCAGG	0.677000														53			28		0	0	0.009535	0	0
HDAC9	9734	broad.mit.edu	37	7	18688209	18688209	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:18688209T>G	uc003sui.3	+	9	1411	c.1370T>G	c.(1369-1371)tTg>tGg	p.L457W	HDAC9_uc003sue.3_Missense_Mutation_p.L454W|HDAC9_uc011jyd.2_Missense_Mutation_p.L454W|HDAC9_uc003suh.3_Missense_Mutation_p.L454W|HDAC9_uc003suj.3_Missense_Mutation_p.L413W|HDAC9_uc011jya.2_Missense_Mutation_p.L452W|HDAC9_uc003sua.1_Missense_Mutation_p.L432W|HDAC9_uc003sud.2_Missense_Mutation_p.L454W|HDAC9_uc011jyc.2_Missense_Mutation_p.L413W|HDAC9_uc011jyb.2_Missense_Mutation_p.L410W|HDAC9_uc003suf.2_Missense_Mutation_p.L485W|HDAC9_uc010kud.2_Missense_Mutation_p.L457W|HDAC9_uc011jye.2_Missense_Mutation_p.L426W|HDAC9_uc011jyf.2_Missense_Mutation_p.L377W|HDAC9_uc010kue.1_Missense_Mutation_p.L197W	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	454					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TCTGCACCTTTGCCTCAGAGC	0.502000														39			19		0	0	0.007413	0	0
CUBN	8029	broad.mit.edu	37	10	16982177	16982177	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:16982177C>T	uc001ioo.3	-	36	5454	c.5402G>A	c.(5401-5403)gGa>gAa	p.G1801E		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1801	CUB 12.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGTGGCATTTCCTTCACGGAT	0.433000														116			108		0	0	0.014410	0	0
DNAH5	1767	broad.mit.edu	37	5	13721235	13721235	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:13721235C>T	uc003jfd.2	-	70	12195	c.12153G>A	c.(12151-12153)atG>atA	p.M4051I	DNAH5_uc003jfc.2_Missense_Mutation_p.M219I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4051	AAA 6 (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)					GGTCTGAGCCCATAGACAGGA	0.498000									Kartagener syndrome					94			41		0	0	0.008740	0	0
TRIM9	114088	broad.mit.edu	37	14	51448794	51448794	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:51448794G>A	uc001wyx.4	-	7	2396	c.1631C>T	c.(1630-1632)tCg>tTg	p.S544L	TRIM9_uc001wyy.2_Missense_Mutation_p.S625L	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	544	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CGAGTGCGCCGAGCCAGGGTC	0.537000														31			15		0	0	0.004007	0	0
GRIN2A	2903	broad.mit.edu	37	16	9934887	9934887	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:9934887G>A	uc010uym.2	-	6	1713	c.1403C>T	c.(1402-1404)tCc>tTc	p.S468F	GRIN2A_uc002czo.4_Missense_Mutation_p.S468F|GRIN2A_uc010uyn.2_Missense_Mutation_p.S311F|GRIN2A_uc002czr.4_Missense_Mutation_p.S468F	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	468					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CACAGTTCTGGAAAGCTTCTT	0.418000														47			20		0	0	0.008871	0	0
MUC16	94025	broad.mit.edu	37	19	9088356	9088356	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9088356G>A	uc002mkp.3	-	0	3663	c.3459C>T	c.(3457-3459)atC>atT	p.I1153I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1153	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						ATGAGGACAAGATGCCAAGCC	0.478000														65			37		0	0	0.003271	0	0
TLL1	7092	broad.mit.edu	37	4	166946521	166946521	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:166946521C>T	uc003irh.2	+	8	1743	c.1096C>T	c.(1096-1098)Ccc>Tcc	p.P366S	TLL1_uc021xud.1_Missense_Mutation_p.P366S|TLL1_uc011cjn.2_Missense_Mutation_p.P366S|TLL1_uc011cjo.2_Missense_Mutation_p.P190S	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	366	CUB 1.				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)		TCCAGGATTTCCCAATGGCTA	0.383000														76			45		0	0	0.014410	0	0
FAM135A	57579	broad.mit.edu	37	6	71236209	71236209	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:71236209G>A	uc003pfj.3	+	12	3555	c.3422G>A	c.(3421-3423)gGt>gAt	p.G1141D	FAM135A_uc003pfi.3_Missense_Mutation_p.G945D|FAM135A_uc003pfh.3_Missense_Mutation_p.G928D|FAM135A_uc003pfl.3_Missense_Mutation_p.G808D|FAM135A_uc003pfn.3_Missense_Mutation_p.G347D|FAM135A_uc003pfo.1_Missense_Mutation_p.G512D|FAM135A_uc010kan.2_5'Flank	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	1141										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CTGAGAGATGGTATAAACATG	0.358000														95			65		0	0	0.014410	0	0
SMYD5	10322	broad.mit.edu	37	2	73446039	73446039	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:73446039C>T	uc002siw.2	+	1	176	c.147C>T	c.(145-147)ttC>ttT	p.F49F	SMYD5_uc010yre.1_5'UTR	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	Homo sapiens SMYD family member 5 (SMYD5), mRNA.	49							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						AGACCATCTTCGTAGAACGGC	0.537000														25			33		0	0	0.004289	0	0
TTN	7273	broad.mit.edu	37	2	179472736	179472736	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179472736G>A	uc021vsy.1	-	224	45299	c.45074C>T	c.(45073-45075)cCa>cTa	p.P15025L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P8720L|TTN_uc021vta.1_Missense_Mutation_p.P8653L|TTN_uc021vtb.1_Missense_Mutation_p.P8528L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15952	Fibronectin type-III 9.						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)			ATTGAAAGCTGGGGGTTCCCA	0.448000														28			10		0	0	0.006214	0	0
ZNF142	7701	broad.mit.edu	37	2	219509210	219509210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:219509210C>T	uc002vin.3	-	7	2465	c.2029G>A	c.(2029-2031)Ggt>Agt	p.G677S	ZNF142_uc002vil.3_Missense_Mutation_p.G638S|ZNF142_uc010fvt.3_Missense_Mutation_p.G514S|ZNF142_uc002vim.3_Missense_Mutation_p.G514S	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	677					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCCAGGTCACCCCCATGGGGA	0.637000														34			19		0	0	0.010504	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338967	13338967	+	RNA	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:13338967G>A	uc003gms.3	+	0		c.3931G>A								Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene (HSP90AB2P), non-coding RNA.											kidney(3)|lung(1)	4						AAGCCTATTTGGACCAGAAAC	0.408000														29			7		0	0	0.001984	0	0
COL4A4	1286	broad.mit.edu	37	2	227942760	227942760	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:227942760C>T	uc021vxr.1	-	23	1938	c.1837G>A	c.(1837-1839)Gga>Aga	p.G613R	COL4A4_uc021vxs.1_Missense_Mutation_p.G613R	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	613	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.K612K(1)|p.G613E(1)		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)		CCAGGAAATCCTTTACCACCT	0.557000														39			5		0	0	0.000602	0	0
TIGD3	220359	broad.mit.edu	37	11	65124003	65124003	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:65124003C>T	uc021qlj.1	+	0	724	c.724C>T	c.(724-726)Ccc>Tcc	p.P242S	TIGD3_uc001odo.4_Missense_Mutation_p.P242S	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA.	242	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CCTGGGCATCCCCTGGTTAGA	0.662000														61			56		0	0	0.014410	0	0
CYBB	1536	broad.mit.edu	37	X	37642818	37642818	+	Nonsense_Mutation	SNP	C	T	T	rs137854588		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:37642818C>T	uc004ddr.2	+	2	278	c.217C>T	c.(217-219)Cga>Tga	p.R73*	CYBB_uc011mke.1_Non-coding_Transcript|CYBB_uc011mkf.1_Nonsense_Mutation_p.R41*|CYBB_uc011mkg.1_5'UTR	NM_000397	NP_000388	P04839	CY24B_HUMAN	Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.	73	Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						GCCAGTCTGTCGAAATCTGCT	0.498000														6			23		0	0	0.003330	0	0
CCNB3	85417	broad.mit.edu	37	X	50052004	50052004	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:50052004C>T	uc004dox.4	+	5	1133	c.835C>T	c.(835-837)Ccc>Tcc	p.P279S	CCNB3_uc004doy.3_Missense_Mutation_p.P279S|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	279					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GGAGTCAATCCCCACCCATAA	0.418000														9			28		0	0	0.005443	0	0
CLSTN3	9746	broad.mit.edu	37	12	7303190	7303190	+	Missense_Mutation	SNP	C	T	T	rs141776530		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:7303190C>T	uc001qss.3	+	13	2870	c.2332C>T	c.(2332-2334)Cgg>Tgg	p.R778W	CLSTN3_uc001qsr.3_Missense_Mutation_p.R766W	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	766					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GGCTCGTTATCGGCTGCGACA	0.577000														55			24		0	0	0.002780	0	0
ZNF317	57693	broad.mit.edu	37	19	9270815	9270816	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9270815_9270816CC>TT	uc002mku.3	+	6	799_800	c.494_495CC>TT	c.(493-495)tcc>tTT	p.S165F	ZNF317_uc002mkv.3_Missense_Mutation_p.S24F|ZNF317_uc002mkw.3_Missense_Mutation_p.S133F|ZNF317_uc002mkx.3_Missense_Mutation_p.S80F|ZNF317_uc002mky.3_Missense_Mutation_p.S48F	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA.	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GGAGAGAAGTCCACTGAATACG	0.515000														43			19		0	0	0.004672	0	0
CDT1	81620	broad.mit.edu	37	16	88872152	88872152	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:88872152T>C	uc002flu.3	+	4	761	c.707T>C	c.(706-708)gTt>gCt	p.V236A		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	Homo sapiens chromatin licensing and DNA replication factor 1 (CDT1), mRNA.	236					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		GAGTGCAATGTTGGCCAGATC	0.652000														39			13		0	0	0.001855	0	0
G6PC	2538	broad.mit.edu	37	17	41055989	41055989	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:41055989C>T	uc002icb.1	+	1	351	c.272C>T	c.(271-273)aCt>aTt	p.T91I	G6PC_uc010whf.1_Missense_Mutation_p.T93I	NM_000151	NP_000142	P35575	G6PC_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA.	91					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GTTTTGGATACTGACTACTAC	0.493000														82			36		0	0	0.008740	0	0
ETF1	2107	broad.mit.edu	37	5	137844008	137844008	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:137844008G>A	uc003ldc.4	-	10	1465	c.1300C>T	c.(1300-1302)Ctt>Ttt	p.L434F	ETF1_uc011cyv.2_Missense_Mutation_p.L420F|ETF1_uc010jex.3_Non-coding_Transcript|ETF1_uc003ldd.4_Missense_Mutation_p.L401F	NM_004730	NP_004721	P62495	ERF1_HUMAN	Homo sapiens eukaryotic translation termination factor 1 (ETF1), transcript variant 1, mRNA.	434					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TAGTCATCAAGGTCAAAAAAT	0.483000														16			13		0	0	0.002450	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64484034	64484034	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:64484034C>T	uc003jtp.3	-	21	3533	c.2719G>A	c.(2719-2721)Gat>Aat	p.D907N	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	907	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TCCAACCAATCCCCAATGAAC	0.493000														99			60		0	0	0.014410	0	0
RP1	6101	broad.mit.edu	37	8	55538364	55538364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:55538364G>A	uc003xsd.1	+	3	2070	c.1922G>A	c.(1921-1923)aGa>aAa	p.R641K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	641					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)			GTCACTGCAAGAATTGACAGA	0.353000														29			22		0	0	0.014323	0	0
SPHKAP	80309	broad.mit.edu	37	2	228890178	228890178	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:228890178C>A	uc002vpq.2	-	4	420	c.373G>T	c.(373-375)Gaa>Taa	p.E125*	SPHKAP_uc002vpp.2_Nonsense_Mutation_p.E125*|SPHKAP_uc010zlx.1_Nonsense_Mutation_p.E125*	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	125						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)		ATTTCATTTTCTTTTGGTTGT	0.363000														43			18		1.33834e-09	1.48241e-09	0.007413	1	0
DKK2	27123	broad.mit.edu	37	4	107846989	107846989	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:107846989C>T	uc003hyi.3	-	1	1045	c.340G>A	c.(340-342)Ggc>Agc	p.G114S	DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Missense_Mutation_p.G114S	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	114	DKK-type Cys-1.				Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CAGCACATGCCATCTCGGTGG	0.493000														116			69		0	0	0.014410	0	0
TMEM57	55219	broad.mit.edu	37	1	25824873	25824873	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:25824873C>T	uc001bkk.3	+	10	2113	c.1911C>T	c.(1909-1911)tcC>tcT	p.S637S	TMEM57_uc009vru.3_Silent_p.S410S|TMEM57_uc009vrv.3_Silent_p.S279S	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	Homo sapiens transmembrane protein 57 (TMEM57), mRNA.	637						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)		GCCCTGTTTCCCCCCACTACT	0.532000														74			37		0	0	0.006230	0	0
ZAN	7455	broad.mit.edu	37	7	100349900	100349900	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:100349900C>T	uc003uwj.3	+	13	2337	c.2172C>T	c.(2170-2172)ccC>ccT	p.P724P	ZAN_uc003uwk.3_Silent_p.P724P|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.	724	66 X heptapeptide repeats (approximate) (mucin-like domain).				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)			CAGAAAAACCCACCATCCCCA	0.512000														31			18		0	0	0.008871	0	0
ZNF37A	7587	broad.mit.edu	37	10	38407308	38407308	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:38407308C>T	uc001izk.3	+	7	2059	c.1229C>T	c.(1228-1230)cCt>cTt	p.P410L	ZNF37A_uc001izl.3_Missense_Mutation_p.P410L|ZNF37A_uc001izm.3_Missense_Mutation_p.P410L	NM_001007094	NP_003412	P17032	ZN37A_HUMAN	Homo sapiens zinc finger protein 37A (ZNF37A), transcript variant 1, mRNA.	410						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						GGTGAAAAACCTTATGAATGT	0.393000														15			12		0	0	0.010729	0	0
GANC	2595	broad.mit.edu	37	15	42641675	42641675	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:42641675C>T	uc001zpi.3	+	21	2827	c.2513C>T	c.(2512-2514)tCc>tTc	p.S838F	CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_5'UTR	NM_198141	NP_937784	Q8TET4	GANC_HUMAN	Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA.	838					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TCATTCTGTTCCAGTGTTCTG	0.398000														68			39		0	0	0.006999	0	0
SPERT	220082	broad.mit.edu	37	13	46287337	46287337	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:46287337C>T	uc001van.1	+	2	257	c.177C>T	c.(175-177)ttC>ttT	p.F59F	SPERT_uc001vao.2_Silent_p.F23F	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	59						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CCGAACCCTTCCCGAGGCTCC	0.647000														24			4		0	0	0.009096	0	0
HSPA6	3310	broad.mit.edu	37	1	161495086	161495086	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:161495086C>T	uc001gaq.3	+	0	1051	c.638C>T	c.(637-639)tCc>tTc	p.S213F	TRNA_Gly_uc021pdc.1_5'Flank	NM_002155	NP_002146	P17066	HSP76_HUMAN	Homo sapiens heat shock 70kDa protein 6 (HSP70B') (HSPA6), mRNA.	213					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCGGTTCTCTCCATTGACGCT	0.597000														32			15		0	0	0.006122	0	0
LBP	3929	broad.mit.edu	37	20	36982741	36982742	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:36982741_36982742CC>TT	uc002xic.1	+	3	461_462	c.426_427CC>TT	c.(424-429)ctcctg>ctTTtg	p.142_143LL>LL		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	142					Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CGGTCAACCTCCTGTTGGGCAG	0.569000														33			29		0	0	0.004672	0	0
SERPINB2	5055	broad.mit.edu	37	18	61587039	61587039	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:61587039G>A	uc010xev.2	+	4	480	c.390G>A	c.(388-390)atG>atA	p.M130I	SERPINB2_uc010xew.2_Missense_Mutation_p.M130I	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	145					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TAGAAGACATGAAAACATATT	0.338000														51			9		0	0	0.006214	0	0
OR2G6	391211	broad.mit.edu	37	1	248685589	248685589	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:248685589C>G	uc001ien.1	+	0	642	c.642C>G	c.(640-642)atC>atG	p.I214M		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	214					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)			TGTTACTCATCTTAGTCTCCT	0.493000														98			13		0	0	0.002450	0	0
GPATCH1	55094	broad.mit.edu	37	19	33617589	33617590	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:33617589_33617590CC>TT	uc002nug.1	+	18	3029_3030	c.2715_2716CC>TT	c.(2713-2718)agccag>agTTag	p.Q906*	GPATCH1_uc002nuh.1_Nonsense_Mutation_p.Q283*	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	906						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GCAGCGACAGCCAGAGTGACGA	0.485000											OREG0025410	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		59			22		0	0	0.004672	0	0
SLC13A3	64849	broad.mit.edu	37	20	45221074	45221075	+	Nonsense_Mutation	DNP	TC	GT	GT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:45221074_45221075TC>GT	uc002xsf.2	-	5	928_929	c.888_889GA>AC	c.(886-891)tggatc>tgACtc	p.296_297WI>*L	SLC13A3_uc010ghn.2_Nonsense_Mutation_p.265_266WI>*L|SLC13A3_uc010zxx.2_Nonsense_Mutation_p.198_199WI>*L|SLC13A3_uc010zxw.2_Nonsense_Mutation_p.246_247WI>*L|SLC13A3_uc002xsg.2_Nonsense_Mutation_p.249_250WI>*L|SLC13A3_uc010gho.2_Nonsense_Mutation_p.249_250WI>*L	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	296						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	AGGAAGGAGATCCAGAGCCAGC	0.505000														29			22		0	0	0.004672	0	0
ZNF556	80032	broad.mit.edu	37	19	2873574	2873574	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:2873574C>T	uc002lwp.1	+	1	171	c.84C>T	c.(82-84)ctC>ctT	p.L28L	ZNF556_uc002lwq.3_Silent_p.L28L	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	28	KRAB.				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)		AGAGAAAACTCTACAGAGATG	0.438000														53			39		0	0	0.006230	0	0
BRWD1	54014	broad.mit.edu	37	21	40590178	40590178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr21:40590178C>T	uc002yxk.2	-	30	3854	c.3559G>A	c.(3559-3561)Ggc>Agc	p.G1187S	BRWD1_uc010goc.1_Intron|BRWD1_uc021wjf.1_Missense_Mutation_p.G1187S|BRWD1_uc010god.1_Missense_Mutation_p.G153S	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	1187	Bromo 1.				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)				TCAACAGGGCCTGCAAAAGCT	0.378000														10			19		0	0	0.010504	0	0
ZNF430	80264	broad.mit.edu	37	19	21239839	21239839	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:21239839T>A	uc002npj.3	+	4	906	c.725T>A	c.(724-726)tTt>tAt	p.F242Y	ZNF430_uc002npk.3_Missense_Mutation_p.F241Y	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	Homo sapiens zinc finger protein 430 (ZNF430), transcript variant 1, mRNA.	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						GGTAAAGTCTTTAACTGGTTC	0.358000														30			17		0	0	0.004007	0	0
MBD3L1	85509	broad.mit.edu	37	19	8953432	8953432	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:8953432C>T	uc002mko.2	+	0	164	c.78C>T	c.(76-78)atC>atT	p.I26I		NM_145208	NP_660209	Q8WWY6	MB3L1_HUMAN	Homo sapiens methyl-CpG binding domain protein 3-like 1 (MBD3L1), mRNA.	26	Transcription repressor.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						GCACCTCAATCCCTTTGAGAA	0.468000														25			17		0	0	0.006122	0	0
CLGN	1047	broad.mit.edu	37	4	141317292	141317292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:141317292C>T	uc011chi.2	-	9	1170	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	CLGN_uc003iii.3_Missense_Mutation_p.E318K	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	318					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					AATTTTGGTTCATCATCAAGC	0.348000														93			47		0	0	0.014410	0	0
ARNTL	406	broad.mit.edu	37	11	13407317	13407317	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:13407317T>C	uc001mkr.3	+	18	2107	c.1699T>C	c.(1699-1701)Tct>Cct	p.S567P	ARNTL_uc001mko.3_Missense_Mutation_p.S523P|ARNTL_uc001mkp.3_Missense_Mutation_p.S566P|ARNTL_uc001mkq.3_Missense_Mutation_p.S566P|ARNTL_uc001mks.3_Missense_Mutation_p.S524P|ARNTL_uc001mkt.3_Missense_Mutation_p.S567P|ARNTL_uc001mkw.3_Missense_Mutation_p.S524P|ARNTL_uc001mkx.3_Missense_Mutation_p.S565P|ARNTL_uc001mky.3_Missense_Mutation_p.S105P	NM_001178	NP_001169	O00327	BMAL1_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like (ARNTL), transcript variant 1, mRNA.	567					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|Hsp90 protein binding|aryl hydrocarbon receptor binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TTATCCATATTCTGATAGTTC	0.398000														50			26		0	0	0.004656	0	0
OR4N4	283694	broad.mit.edu	37	15	22383340	22383340	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:22383340C>T	uc001yuc.1	+	6	1849	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Missense_Mutation_p.R290C	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	290					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)		TTATACCCTTCGCAACCAGGA	0.413000														73			30		0	0	0.008361	0	0
LMO4	8543	broad.mit.edu	37	1	87805770	87805770	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:87805770G>T	uc001dmi.3	+	3	1154	c.374G>T	c.(373-375)gGa>gTa	p.G125V	LMO4_uc001dmj.3_Missense_Mutation_p.G125V	NM_006769	NP_006760	P61968	LMO4_HUMAN	Homo sapiens LIM domain only 4 (LMO4), mRNA.	125	LIM zinc-binding 2.				neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		CTGGTCCCGGGAGATCGGTTT	0.413000														83			45		2.31418e-15	2.57602e-15	0.014410	1	0
ADAMTS2	9509	broad.mit.edu	37	5	178548698	178548698	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:178548698G>A	uc003mjw.3	-	20	3244	c.3142C>T	c.(3142-3144)Ccg>Tcg	p.P1048S		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	1048					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TCGGGGTCCGGGCGGGACAGC	0.622000														215			60		0	0	0.014410	0	0
CNST	163882	broad.mit.edu	37	1	246811001	246811001	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:246811001C>T	uc001ibp.3	+	8	1876	c.1498C>T	c.(1498-1500)Cag>Tag	p.Q500*	CNST_uc001ibo.4_Nonsense_Mutation_p.Q500*	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA.	500					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						ACCACAGGCGCAGGCTGACTC	0.473000														50			33		0	0	0.010818	0	0
PPARG	5468	broad.mit.edu	37	3	12447402	12447402	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:12447402C>T	uc003bwx.3	+	4	732	c.641C>T	c.(640-642)cCa>cTa	p.P214L	PPARG_uc003bwr.3_Missense_Mutation_p.P186L|PPARG_uc003bws.3_Missense_Mutation_p.P186L|PPARG_uc003bwu.3_Missense_Mutation_p.P186L|PPARG_uc003bwv.3_Missense_Mutation_p.P186L|PPARG_uc010hea.1_Non-coding_Transcript|PPARG_uc003bwt.1_Missense_Mutation_p.P186L|PPARG_uc003bww.1_Missense_Mutation_p.P214L	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	214	Interaction with FAM120B (By similarity).			MP -> IA (in Ref. 3; BAA18949).	activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.M213V(1)	PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	GGGCGGATGCCACAGGCCGAG	0.532000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""							292			149		0	0	0.014410	0	0
PLCB4	5332	broad.mit.edu	37	20	9402010	9402010	+	Silent	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:9402010T>C	uc021wam.1	+	22	2200	c.2185T>C	c.(2185-2187)Ttg>Ctg	p.L729L	PLCB4_uc010gbw.1_Silent_p.L729L|PLCB4_uc010gbx.3_Silent_p.L741L|PLCB4_uc021wal.1_Silent_p.L729L|PLCB4_uc002wnh.3_Silent_p.L576L	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	729	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TATGTATGGGTTGCCCACTGA	0.408000														41			33		0	0	0.004878	0	0
FILIP1L	11259	broad.mit.edu	37	3	99567727	99567727	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:99567727C>T	uc003dtm.3	-	4	3256	c.2793G>A	c.(2791-2793)acG>acA	p.T931T	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Silent_p.T931T|FILIP1L_uc010hpf.3_Silent_p.T507T|FILIP1L_uc010hpg.3_Silent_p.T691T|FILIP1L_uc003dtn.3_Silent_p.T691T|FILIP1L_uc021xbr.1_Silent_p.T691T|FILIP1L_uc003dtp.1_Silent_p.T691T	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	931						cytoplasm|membrane|myosin complex|nucleus		p.T931T(3)|p.T931R(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CTGCAGTACTCGTGTAAGAGT	0.473000														168			52		0	0	0.014410	0	0
ATP13A4	84239	broad.mit.edu	37	3	193130141	193130141	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:193130141C>T	uc003ftd.3	-	26	3142	c.3034G>A	c.(3034-3036)Gaa>Aaa	p.E1012K	ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	1012					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)		GAGATGCTTTCATTTTGTACT	0.398000														151			48		0	0	0.014410	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114448322	114448322	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:114448322G>A	uc001eeg.3	+	0	408	c.114G>A	c.(112-114)gtG>gtA	p.V38V	AP4B1_uc001eeb.3_5'Flank|AP4B1_uc001eec.3_5'Flank|AP4B1_uc010owp.2_5'Flank|AP4B1_uc001eed.3_5'Flank|AP4B1_uc010owq.2_5'Flank|DCLRE1B_uc001eeh.3_5'UTR|DCLRE1B_uc001eei.3_5'UTR	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	38					DNA repair|cell cycle checkpoint|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCACACCGTGGGCCTGTCTA	0.627000								Other identified genes with known or suspected DNA repair function			OREG0004772	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		39			23		0	0	0.003330	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032005	10032005	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:10032005G>A	uc010uym.2	-	3	1128	c.818C>T	c.(817-819)cCa>cTa	p.P273L	GRIN2A_uc002czo.4_Missense_Mutation_p.P273L|GRIN2A_uc010uyn.2_Missense_Mutation_p.P116L|GRIN2A_uc002czr.4_Missense_Mutation_p.P273L	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	273					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAGTCCCGATGGAAACTCTTT	0.557000														32			23		0	0	0.002780	0	0
SLC26A9	115019	broad.mit.edu	37	1	205890864	205890864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:205890864G>A	uc001hdp.3	-	16	1999	c.1885C>T	c.(1885-1887)Cct>Tct	p.P629S	SLC26A9_uc001hdo.3_Missense_Mutation_p.P297S|SLC26A9_uc001hdq.3_Missense_Mutation_p.P629S	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	629	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GAGCTGTCAGGGCTGAAGGTG	0.647000														6			6		0	0	0.001168	0	0
C6orf165	154313	broad.mit.edu	37	6	88123562	88123562	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:88123562C>T	uc003plv.3	+	3	350	c.227C>T	c.(226-228)cCa>cTa	p.P76L	C6orf165_uc003plu.2_Missense_Mutation_p.P76L|C6orf165_uc003plw.3_5'UTR|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	76										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		ACTAAAAATCCATCCCTGGAC	0.318000														55			20		0	0	0.002780	0	0
KNTC1	9735	broad.mit.edu	37	12	123102893	123102893	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:123102893C>T	uc001ucv.3	+	57	6197	c.6034C>T	c.(6034-6036)Ccc>Tcc	p.P2012S	KNTC1_uc010taf.2_Missense_Mutation_p.P937S	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	2012					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTCACAGGTTCCCTACTTCAG	0.443000														20			10		0	0	0.008291	0	0
DCC	1630	broad.mit.edu	37	18	50450136	50450136	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:50450136G>A	uc002lfe.2	+	3	1373	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	DCC_uc010xdr.1_Missense_Mutation_p.E101K	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	253	Ig-like C2-type 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.E253*(2)		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)		AGTAGCCATTGAAGGAAAAGA	0.423000														25			29		0	0	0.007291	0	0
ZNF195	7748	broad.mit.edu	37	11	3380722	3380722	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:3380722A>C	uc001lxt.3	-	5	1698	c.1516T>G	c.(1516-1518)Tta>Gta	p.L506V	ZNF195_uc010qxr.2_Missense_Mutation_p.L487V|ZNF195_uc009ydz.3_Missense_Mutation_p.L461V|ZNF195_uc001lxu.3_Missense_Mutation_p.L438V|ZNF195_uc001lxv.3_Missense_Mutation_p.L483V|ZNF195_uc021qck.1_Missense_Mutation_p.L438V|ZNF195_uc001lxs.3_Missense_Mutation_p.L434V	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 1, mRNA.	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGGTCTGATAACTGCTTAAAG	0.408000														101			53		0	0	0.014410	0	0
DBNDD1	79007	broad.mit.edu	37	16	90072785	90072785	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:90072785G>A	uc002fqe.1	-	3	569	c.495C>T	c.(493-495)gtC>gtT	p.V165V	DBNDD1_uc002fqf.1_Silent_p.V145V|DBNDD1_uc002fqg.1_Non-coding_Transcript	NM_024043	NP_076948	Q9H9R9	DBND1_HUMAN	Homo sapiens dysbindin (dystrobrevin binding protein 1) domain containing 1 (DBNDD1), transcript variant 2, mRNA.	145						cytoplasm				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		ACGTGTCCAGGACTGTGGCCT	0.662000														16			12		0	0	0.010729	0	0
OR4D2	124538	broad.mit.edu	37	17	56247058	56247058	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:56247058C>T	uc010wnp.2	+	0	42	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F14L(4)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						ACTTTGTCTTCCTGGGGCTCT	0.458000														88			43		0	0	0.014410	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140753701	140753701	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140753701C>T	uc003ljy.2	+	0	51	c.51C>T	c.(49-51)ctC>ctT	p.L17L	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_uc011dau.2_Silent_p.L17L	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	16					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)			TCCTGCTCCTCACGCTCCTGG	0.597000														10			9		0	0	0.004482	0	0
PPP1R12A	4659	broad.mit.edu	37	12	80239088	80239088	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:80239088G>A	uc001syz.3	-	2	748	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	PPP1R12A_uc010suc.2_Missense_Mutation_p.R74W|PPP1R12A_uc001sza.3_Missense_Mutation_p.R161W|PPP1R12A_uc010sud.2_Missense_Mutation_p.R161W|PPP1R12A_uc001szb.3_Missense_Mutation_p.R161W|PPP1R12A_uc001szc.2_Missense_Mutation_p.R161W	NM_002480	NP_001137358	O14974	MYPT1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12A (PPP1R12A), transcript variant 1, mRNA.	161						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TTACCTTGCCGATTAACTTCA	0.373000														15			14		0	0	0.001855	0	0
PTPRD	5789	broad.mit.edu	37	9	8499706	8499706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:8499706C>T	uc003zkk.3	-	24	3006	c.2263G>A	c.(2263-2265)Gaa>Aaa	p.E755K	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	755	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCACCATTTTCCATCCTCACA	0.458000										TSP Lung(15;0.13)				41			43		0	0	0.014410	0	0
ZNF536	9745	broad.mit.edu	37	19	30935403	30935403	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:30935403G>A	uc002nsu.1	+	1	1072	c.934G>A	c.(934-936)Gag>Aag	p.E312K	ZNF536_uc010edd.1_Missense_Mutation_p.E312K	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.E312A(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)					GGCTTCGCAGGAGGAGGAGCT	0.642000														77			46		0	0	0.014410	0	0
UNC13C	440279	broad.mit.edu	37	15	54307723	54307723	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:54307723G>A	uc021smr.1	+	0	2623	c.2623G>A	c.(2623-2625)Gaa>Aaa	p.E875K	UNC13C_uc021sms.1_Missense_Mutation_p.E875K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	875					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)		GGCTGACAATGAAACAGATTA	0.388000														51			31		0	0	0.008361	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766905	27766905	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:27766905C>T	uc011mjy.2	+	0	1980	c.1893C>T	c.(1891-1893)tcC>tcT	p.S631S		NM_001136533	NP_001130005			Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						GCATGCCATCCTGAAGGCCTC	0.433000														2			14		0	0	0.006122	0	0
SCAP	22937	broad.mit.edu	37	3	47458865	47458865	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:47458865C>T	uc003crh.1	-	16	3154	c.2899G>A	c.(2899-2901)Gag>Aag	p.E967K	SCAP_uc011baz.1_Missense_Mutation_p.E711K|SCAP_uc003crg.2_Missense_Mutation_p.E574K	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	967	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		ATGGAACCCTCGGCACTGGGG	0.716000														8			4		0	0	0.000602	0	0
UNC13C	440279	broad.mit.edu	37	15	54527306	54527306	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:54527306G>A	uc021smr.1	+	4	3150	c.3150_splice	c.e4+1	p.V1050_splice	UNC13C_uc021sms.1_Splice_Site_p.V1050_splice	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1050					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)		TCCGAGATGTGGTAAGTTACA	0.378000														31			9		0	0	0.008291	0	0
WNK1	65125	broad.mit.edu	37	12	990932	990932	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:990932C>T	uc021qss.1	+	12	4609	c.3966C>T	c.(3964-3966)acC>acT	p.T1322T	WNK1_uc001qio.4_Silent_p.T1062T|WNK1_uc021qst.1_Silent_p.T1314T|WNK1_uc001qip.4_Silent_p.T815T|WNK1_uc001qir.4_Silent_p.T235T	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	1062					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCCAGCCGACCACTTTGGCTT	0.458000														91			41		0	0	0.011902	0	0
MERTK	10461	broad.mit.edu	37	2	112777026	112777026	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:112777026G>A	uc002thk.1	+	15	2238	c.2116G>A	c.(2116-2118)Gat>Aat	p.D706N	MERTK_uc002thl.1_Missense_Mutation_p.D530N	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	706	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTTCATGGTGGATATTGCCCT	0.413000														73			69		0	0	0.014410	0	0
OR3A3	8392	broad.mit.edu	37	17	3324814	3324814	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:3324814G>A	uc010vrd.2	+	0	953	c.953G>A	c.(952-954)cGa>cAa	p.R318Q		NM_012373	NP_036505	P47888	OR3A3_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 3 (OR3A3), mRNA.	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						GTGGGGAAGCGATCACTGACC	0.453000														28			39		0	0	0.008740	0	0
FAM83E	54854	broad.mit.edu	37	19	49104393	49104393	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:49104393G>A	uc002pjn.2	-	4	1475	c.1410C>T	c.(1408-1410)ccC>ccT	p.P470P		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA.	470								p.A469P(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	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;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GTCCTGCCCGGGGGGCCCAGT	0.647000														43			12		0	0	0.013537	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409859	56409859	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:56409859G>A	uc001njb.1	-	0	57	c.57C>T	c.(55-57)ctC>ctT	p.L19L	OR8U8_uc001nit.2_Intron	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AP, member 2 (OR5AP2), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						GTCCTAAGAGGAGAAATTCTG	0.398000														42			9		0	0	0.010729	0	0
AK309896	0	broad.mit.edu	37	9	66513844	66513844	+	RNA	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:66513844T>C	uc010mnh.1	-	5		c.904A>G								Homo sapiens cDNA FLJ20444 fis, clone KAT05128.																		ATCAACGCAGTGACTCTTAAT	0.502000														67			5		0	0	0.001168	0	0
KCTD6	200845	broad.mit.edu	37	3	58486760	58486761	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:58486760_58486761GG>AA	uc003dkj.4	+	2	232_233	c.115_116GG>AA	c.(115-117)gga>AAa	p.G39K	KCTD6_uc003dkk.4_Missense_Mutation_p.G39K	NM_001128214	NP_699162	Q8NC69	KCTD6_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 6 (KCTD6), transcript variant 2, mRNA.	39	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		TTCCATGCTTGGAGCTATGTTT	0.455000														117			36		0	0	0.004672	0	0
MYH13	8735	broad.mit.edu	37	17	10227386	10227386	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:10227386G>A	uc002gmk.1	-	22	2977	c.2887C>T	c.(2887-2889)Ctg>Ttg	p.L963L	MYH13_uc010vve.1_Silent_p.L61L	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	963					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTCAAGGTCAGCTCCAGGTCA	0.463000														12			27		0	0	0.003954	0	0
DDX3X	1654	broad.mit.edu	37	X	41203370	41203370	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:41203370G>A	uc004dfe.3	+	8	1708	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K	DDX3X_uc010nhf.1_Missense_Mutation_p.E269K|DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_Missense_Mutation_p.E285K|DDX3X_uc011mkq.2_Missense_Mutation_p.E269K|DDX3X_uc011mkr.2_Missense_Mutation_p.E285K|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	285	Helicase ATP-binding.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GATCTACGAGGAAGCCAGAAA	0.363000										HNSCC(61;0.18)				3			6		0	0	0.001984	0	0
COL4A2	1284	broad.mit.edu	37	13	111147733	111147733	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:111147733G>A	uc001vqx.3	+	39	3968	c.3679G>A	c.(3679-3681)Gaa>Aaa	p.E1227K		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1227	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCCTCCTGGGGAAAGAGGTGA	0.567000														84			31		0	0	0.008361	0	0
HTN3	3347	broad.mit.edu	37	4	70897700	70897700	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:70897700C>G	uc003hew.2	+	2	173	c.56C>G	c.(55-57)gCt>gGt	p.A19G		NM_000200	NP_000191	P15516	HIS3_HUMAN	Homo sapiens histatin 3 (HTN3), mRNA.	19					biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	8						TCCAAGGGAGCTGATTCACAT	0.234000														13			14		0	0	0.006122	0	0
OGDHL	55753	broad.mit.edu	37	10	50964927	50964927	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:50964927G>A	uc009xog.3	-	1	385	c.351C>T	c.(349-351)ccC>ccT	p.P117P	OGDHL_uc001jie.3_Silent_p.P90P|OGDHL_uc010qgt.2_Intron|OGDHL_uc010qgu.2_Intron|OGDHL_uc009xoh.2_5'UTR	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	90					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CAACAGAAGGGGGCCGTGGCT	0.592000														41			36		0	0	0.004289	0	0
CDH6	1004	broad.mit.edu	37	5	31322998	31322998	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:31322998C>T	uc003jhe.2	+	11	2316	c.1956C>T	c.(1954-1956)atC>atT	p.I652I		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	652					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						AAGAGGACATCAGAGATAACA	0.483000														41			27		0	0	0.006320	0	0
LRP1B	53353	broad.mit.edu	37	2	141806759	141806759	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:141806759T>C	uc002tvj.1	-	10	2557	c.1585A>G	c.(1585-1587)Aaa>Gaa	p.K529E	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	529					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G528W(1)		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)		GGGCGTCCTTTCCCATAAAAG	0.403000										TSP Lung(27;0.18)				47			44		0	0	0.009718	0	0
HPR	3250	broad.mit.edu	37	16	72110435	72110435	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:72110435G>T	uc002fby.3	+	4	532	c.502G>T	c.(502-504)Ggg>Tgg	p.G168W	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	Homo sapiens haptoglobin-related protein (HPR), mRNA.	168	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				ACTCTATGTGGGGAAAAAGCA	0.433000														59			17		2.35188e-11	2.60989e-11	0.006122	1	0
MED14	9282	broad.mit.edu	37	X	40518793	40518793	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:40518793C>A	uc004dex.4	-	26	3891	c.3751G>T	c.(3751-3753)Gta>Tta	p.V1251L	MED14_uc004dey.1_Missense_Mutation_p.V153L	NM_004229	NP_004220	O60244	MED14_HUMAN	Homo sapiens mediator complex subunit 14 (MED14), mRNA.	1251					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTAAGAGCTACTCTGCATTTC	0.393000														14			24		2.79863e-10	3.10278e-10	0.004656	1	0
UGT3A1	133688	broad.mit.edu	37	5	35965514	35965514	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:35965514C>T	uc003jjv.2	-	3	1010	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.E273K|UGT3A1_uc011cor.2_Missense_Mutation_p.E239K|UGT3A1_uc003jjy.2_Missense_Mutation_p.E219K	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	273						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATAGGTTTTTCCATCAAGCCT	0.453000														53			29		0	0	0.010818	0	0
BRS3	680	broad.mit.edu	37	X	135570517	135570517	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:135570517C>T	uc004ezv.1	+	0	393	c.244C>T	c.(244-246)Cca>Tca	p.P82S		NM_001727	NP_001718	P32247	BRS3_HUMAN	Homo sapiens bombesin-like receptor 3 (BRS3), mRNA.	82					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GCAAACAGTTCCAAATATTTT	0.408000														17			46		0	0	0.014410	0	0
ERC2	26059	broad.mit.edu	37	3	55922538	55922538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:55922538C>T	uc021wzo.1	-	12	2583	c.2443G>A	c.(2443-2445)Gaa>Aaa	p.E815K	ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_Missense_Mutation_p.E811K|ERC2_uc003dht.1_Missense_Mutation_p.E294K	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	815						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	p.Q814H(1)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCATCCAGTTCCTGTCTGGTC	0.512000														144			79		0	0	0.014410	0	0
ANKRD50	57182	broad.mit.edu	37	4	125590189	125590189	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:125590189C>T	uc010inw.3	-	3	5281	c.4243G>A	c.(4243-4245)Gaa>Aaa	p.E1415K	ANKRD50_uc011cgo.2_Missense_Mutation_p.E1236K	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	1415										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TCAGAACCTTCAATCTGAAGC	0.388000														36			9		0	0	0.010729	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140858107	140858107	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140858107C>T	uc003lkv.2	+	0	2539	c.2424C>T	c.(2422-2424)ccC>ccT	p.P808P	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_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Silent_p.P808P|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	818					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)			GCGCCCCTCCCGGACAGGTAA	0.517000											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		9			6		0	0	0.001984	0	0
LOC401127	401127	broad.mit.edu	37	4	39482109	39482109	+	RNA	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:39482109C>T	uc011byn.2	+	0		c.235C>T								Homo sapiens WD repeat domain 5 pseudogene (LOC401127), non-coding RNA.																		AGAGCCATGGCGATGGAGGAG	0.667000														9			5		0	0	0.001168	0	0
C10orf71	118461	broad.mit.edu	37	10	50531454	50531454	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:50531454G>A	uc021pqb.1	+	0	864	c.864G>A	c.(862-864)ctG>ctA	p.L288L	C10orf71_uc021pqa.1_Silent_p.L287L|C10orf71_uc021pqc.1_Silent_p.L288L	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	288										endometrium(1)	1						CAAAGCTGCTGGAGAGAAAGG	0.537000														9			15		0	0	0.004007	0	0
FGFBP1	9982	broad.mit.edu	37	4	15938050	15938050	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:15938050C>T	uc003gom.3	-	2	501	c.206G>A	c.(205-207)aGa>aAa	p.R69K	FGFBP1_uc021xml.1_Missense_Mutation_p.R69K	NM_005130	NP_005121	Q14512	FGFP1_HUMAN	Homo sapiens fibroblast growth factor binding protein 1 (FGFBP1), mRNA.	69					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						AGCAGCCCATCTGCAGTTGGC	0.502000														78			45		0	0	0.011902	0	0
PLBD1	79887	broad.mit.edu	37	12	14689571	14689571	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:14689571G>A	uc001rcc.1	-	4	793	c.632C>T	c.(631-633)cCc>cTc	p.P211L		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA.	211					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						GTTTTTTGTGGGAGAGAGTGA	0.448000														58			28		0	0	0.006320	0	0
PTPRT	11122	broad.mit.edu	37	20	40747109	40747109	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:40747109C>T	uc002xkg.3	-	20	3100	c.2916G>A	c.(2914-2916)tgG>tgA	p.W972*	PTPRT_uc010ggj.3_Nonsense_Mutation_p.W991*|PTPRT_uc010ggi.3_Nonsense_Mutation_p.W175*	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	972	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)				AGATCATTCTCCAAAAGTCCT	0.542000														74			18		0	0	0.010504	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907791	164907791	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:164907791C>T	uc003fej.4	-	1	1272	c.828G>A	c.(826-828)agG>agA	p.R276R	SLITRK3_uc003fek.3_Silent_p.R276R|SLITRK3_uc021xgy.1_Silent_p.R276R	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	276	LRRCT 1.					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						GTTCTGTCTTCCTGATTTCTC	0.483000										HNSCC(40;0.11)				85			22		0	0	0.014323	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806859	97806859	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:97806859G>A	uc011bgs.2	+	0	843	c.843G>A	c.(841-843)acG>acA	p.T281T		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TGTTTTACACGATTATAATTC	0.378000														49			6		0	0	0.001168	0	0
CTNNA2	1496	broad.mit.edu	37	2	80773066	80773066	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:80773066C>T	uc010ysh.2	+	9	1423	c.1418C>T	c.(1417-1419)cCa>cTa	p.P473L	CTNNA2_uc010yse.2_Missense_Mutation_p.P473L|CTNNA2_uc010ysf.2_Missense_Mutation_p.P473L|CTNNA2_uc010ysg.2_Missense_Mutation_p.P473L|CTNNA2_uc010ysi.2_Missense_Mutation_p.P105L	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	473					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.P473R(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCTGCCCGGCCACAGAGCAAA	0.512000														32			5		0	0	0.000602	0	0
LRRC7	57554	broad.mit.edu	37	1	70505117	70505117	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:70505117C>T	uc001dep.3	+	18	3526	c.3496C>T	c.(3496-3498)Ctg>Ttg	p.L1166L	LRRC7_uc009wbg.3_Silent_p.L450L|LRRC7_uc001deq.3_Silent_p.L407L	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1166						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GTCCCAGTTCCTGAAAAGGAA	0.517000														49			33		0	0	0.003755	0	0
abParts	0	broad.mit.edu	37	14	106641726	106641727	+	RNA	DNP	CC	TA	TA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:106641726_106641727CC>TA	uc021ser.1	-	1493		c.29658_29659GG>TA								Parts of antibodies, mostly variable regions.																		CCACTCAAGCCCTTGTCCAGGG	0.550000														121			68		0	0	0.004672	0	0
CELSR3	1951	broad.mit.edu	37	3	48698246	48698246	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:48698246G>A	uc003cuf.1	-	2	2032	c.2032C>T	c.(2032-2034)Ctg>Ttg	p.L678L	CELSR3_uc003cul.3_Silent_p.L608L	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	608	Cadherin 4.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCGAAGTCCAGAGGTGCCACC	0.607000														17			13		0	0	0.001855	0	0
NHSL2	340527	broad.mit.edu	37	X	71359251	71359251	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:71359251A>G	uc011mqa.2	+	5	1853	c.1853A>G	c.(1852-1854)cAg>cGg	p.Q618R	NHSL2_uc004eak.1_Missense_Mutation_p.Q252R|NHSL2_uc010nli.2_Missense_Mutation_p.Q387R	NM_001013627	NP_001013649	F5H593	F5H593_HUMAN	Homo sapiens NHS-like 2 (NHSL2), mRNA.	618										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CCAGATGCTCAGGGTCACCCA	0.522000														7			22		0	0	0.002780	0	0
SYCP1	6847	broad.mit.edu	37	1	115487547	115487547	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:115487547G>A	uc001efr.3	+	24	2307	c.2098G>A	c.(2098-2100)Gat>Aat	p.D700N	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.D700N|SYCP1_uc009wgw.3_Missense_Mutation_p.D700N	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	700					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		GAAAGAAATTGATAAGCGATG	0.264000														25			15		0	0	0.006122	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957327	35957327	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:35957327C>T	uc003jjv.2	-	4	1231	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Silent_p.V346V|UGT3A1_uc011cor.2_Silent_p.V312V	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	346						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACAATTTTCACATTTGTGG	0.488000														33			16		0	0	0.006122	0	0
C15orf23	90417	broad.mit.edu	37	15	40675049	40675049	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:40675049G>A	uc001zll.3	+	0	128	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	C15orf23_uc001zlo.3_Missense_Mutation_p.E5K|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Missense_Mutation_p.E5K	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA.	5						nucleus	protein binding			central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	14		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		GGCGGCTCCCGAAGCCCCGCC	0.582000														12			6		0	0	0.003080	0	0
SCN5A	6331	broad.mit.edu	37	3	38618268	38618268	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:38618268G>A	uc021wvo.1	-	17	3447	c.3395C>T	c.(3394-3396)cCa>cTa	p.P1132L	SCN5A_uc021wvk.1_Missense_Mutation_p.P1131L|SCN5A_uc021wvl.1_Missense_Mutation_p.P1078L|SCN5A_uc021wvm.1_Missense_Mutation_p.P1132L|SCN5A_uc021wvn.1_Missense_Mutation_p.P1131L|SCN5A_uc021wvp.1_Missense_Mutation_p.P1132L|SCN5A_uc021wvq.1_Missense_Mutation_p.P1131L|SCN5A_uc021wvr.1_Missense_Mutation_p.P1132L|SCN5A_uc021wvs.1_Missense_Mutation_p.P1132L|SCN5A_uc021wvt.1_Missense_Mutation_p.P1131L|SCN5A_uc021wvu.1_Missense_Mutation_p.P1078L|SCN5A_uc021wvv.1_Missense_Mutation_p.P1132L|SCN5A_uc021wvj.1_Missense_Mutation_p.P944L|SCN5A_uc021wvi.1_Missense_Mutation_p.P998L|SCN5A_uc021wvw.1_Missense_Mutation_p.P742L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1132					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)	ACTGTCCTCTGGGGTCTATGG	0.617000														12			8		0	0	0.010729	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37126579	37126579	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:37126579C>T	uc003zzq.3	+	1	423	c.250C>T	c.(250-252)Cag>Tag	p.Q84*	ZCCHC7_uc011lqh.2_Intron|ZCCHC7_uc022bgu.1_Nonsense_Mutation_p.Q84*|ZCCHC7_uc010mlt.3_Nonsense_Mutation_p.Q83*|ZCCHC7_uc003zzs.1_Nonsense_Mutation_p.Q83*	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 7 (ZCCHC7), mRNA.	84							nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		TGAGGTCATCCAGCTGTCAGA	0.408000														58			53		0	0	0.014410	0	0
OR9K2	441639	broad.mit.edu	37	12	55523706	55523706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:55523706C>T	uc010spe.2	+	0	154	c.154C>T	c.(154-156)Ctc>Ttc	p.L52F		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L52I(2)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						CCACATTCTCCTCTTCCTGCT	0.453000														102			46		0	0	0.014410	0	0
MACF1	23499	broad.mit.edu	37	1	39926464	39926464	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:39926464C>T	uc021olw.1	+	56	16850	c.16850C>T	c.(16849-16851)tCc>tTc	p.S5617F	MACF1_uc021ols.1_Missense_Mutation_p.S5112F|MACF1_uc021olt.1_Missense_Mutation_p.S5115F|MACF1_uc001cde.2_5'Flank	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	7073					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)			ATTTTAGCATCCAGTGAGTCT	0.438000														121			34		0	0	0.003755	0	0
GXYLT1	283464	broad.mit.edu	37	12	42481745	42481745	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:42481745G>A	uc001rms.4	-	7	1391	c.1166C>T	c.(1165-1167)tCt>tTt	p.S389F	GXYLT1_uc001rmt.4_Missense_Mutation_p.S358F	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	Homo sapiens glucoside xylosyltransferase 1 (GXYLT1), transcript variant 1, mRNA.	389					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						ATCTTCAAAAGAACACTAGAG	0.254000														31			16		0	0	0.006122	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589549	140589549	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140589549C>T	uc003liz.3	+	0	1259	c.1070C>T	c.(1069-1071)cCa>cTa	p.P357L	PCDHB12_uc011dak.2_Missense_Mutation_p.P20L	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	357	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTCCAATCCCAGAAAACACT	0.463000														21			24		0	0	0.003330	0	0
SCNN1G	6340	broad.mit.edu	37	16	23223406	23223406	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:23223406G>T	uc002dlm.1	+	7	1367	c.1228G>T	c.(1228-1230)Gcc>Tcc	p.A410S		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	410					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ATGTGGGTGTGCCCAGTACAG	0.542000														42			32		5.90632e-09	6.52804e-09	0.012213	1	0
PPAPDC1A	196051	broad.mit.edu	37	10	122263337	122263337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:122263337G>A	uc001lev.1	+	1	416	c.64G>A	c.(64-66)Gag>Aag	p.E22K	PPAPDC1A_uc010qtd.2_Missense_Mutation_p.E22K|PPAPDC1A_uc009xzl.1_Missense_Mutation_p.E22K|PPAPDC1A_uc001lew.1_Missense_Mutation_p.E22K|PPAPDC1A_uc001lex.1_Missense_Mutation_p.E22K|PPAPDC1A_uc001ley.1_5'UTR	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 1A (PPAPDC1A), mRNA.	22					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		CAGTTTTACAGAGTTTTTGGA	0.458000														27			7		0	0	0.001984	0	0
CENPE	1062	broad.mit.edu	37	4	104065532	104065532	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:104065532C>T	uc003hxb.1	-	32	5191	c.5101G>A	c.(5101-5103)Gag>Aag	p.E1701K	CENPE_uc003hxc.1_Missense_Mutation_p.E1676K	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	1701					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGGTCTCTCTCTACTTTGAGA	0.383000														74			23		0	0	0.002780	0	0
LOC643486	643486	broad.mit.edu	37	X	95592766	95592766	+	RNA	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:95592766C>T	uc010nmx.3	-	0		c.136G>A								Homo sapiens bromodomain, testis-specific pseudogene (LOC643486), non-coding RNA.																		TTATGCCATTCGAAAGCTGCT	0.353000														5			12		0	0	0.010729	0	0
FSIP2	401024	broad.mit.edu	37	2	186672204	186672204	+	Silent	SNP	A	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:186672204A>C	uc002upl.3	+	16	18438	c.18438A>C	c.(18436-18438)acA>acC	p.T6146T	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						CAGTTGCAACAGAGATCTCCC	0.323000														93			63		0	0	0.014410	0	0
OR5M11	219487	broad.mit.edu	37	11	56310287	56310287	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:56310287G>A	uc010rjl.2	-	0	447	c.447C>T	c.(445-447)gtC>gtT	p.V149V	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AGAAGCCATAGACATAGGGAA	0.527000														13			7		0	0	0.001984	0	0
ARAP2	116984	broad.mit.edu	37	4	36162209	36162209	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:36162209G>A	uc003gsq.2	-	12	2652	c.2314C>T	c.(2314-2316)Caa>Taa	p.Q772*	ARAP2_uc003gsr.1_Nonsense_Mutation_p.Q772*	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	772	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCATCCTTTTGAAGATTACCA	0.294000														26			4		0	0	0.001168	0	0
GUCY2D	3000	broad.mit.edu	37	17	7915885	7915885	+	Missense_Mutation	SNP	G	A	A	rs61750163		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:7915885G>A	uc002gjt.2	+	9	2148	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	Homo sapiens guanylate cyclase 2D, membrane (retina-specific) (GUCY2D), mRNA.	692	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GAGACTGCTGGAAGCACAGAA	0.592000														26			39		0	0	0.010771	0	0
SLC6A3	6531	broad.mit.edu	37	5	1441550	1441550	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:1441550G>A	uc003jck.3	-	2	468	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	114					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GCTCCATGTAGAAAAGTGGCA	0.577000														31			20		0	0	0.007413	0	0
EPX	8288	broad.mit.edu	37	17	56272328	56272328	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:56272328C>T	uc002ivq.3	+	5	717	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	200					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CCACCAGGTCCGGGCTGTCTC	0.597000														16			6		0	0	0.001168	0	0
CYP4F12	66002	broad.mit.edu	37	19	15791299	15791299	+	Silent	SNP	G	A	A	rs141478890		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:15791299G>A	uc002nbl.3	+	4	614	c.495G>A	c.(493-495)acG>acA	p.T165T	CYP4F12_uc010xoo.2_Silent_p.T165T|CYP4F12_uc010xop.2_3'UTR	NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.									p.T165T(2)		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)					CCTATATAACGATCTTCAACA	0.537000														15			18		0	0	0.012319	0	0
ANGPT1	284	broad.mit.edu	37	8	108359231	108359231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:108359231C>T	uc003ymn.3	-	1	860	c.392G>A	c.(391-393)gGa>gAa	p.G131E	ANGPT1_uc003ymo.3_Missense_Mutation_p.G131E	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	131					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	p.G131E(2)		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)			GAGGCTGGTTCCTATCTCCAG	0.512000														75			42		0	0	0.007835	0	0
CRYGD	1421	broad.mit.edu	37	2	209025546	209025546	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:209025546C>T	uc002vcq.4	-	2	524	c.507G>A	c.(505-507)cgG>cgA	p.R169R	CRYGD_uc021vvu.1_Intron	NM_014617	NP_055432	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma A (CRYGA), mRNA.	169	Beta/gamma crystallin 'Greek key' 4.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		AATCGGTGACCCGTCTCAAAG	0.517000														54			26		0	0	0.004656	0	0
MUC16	94025	broad.mit.edu	37	19	9024193	9024193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9024193C>T	uc002mkp.3	-	17	37283	c.37079G>A	c.(37078-37080)gGg>gAg	p.G12360E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12362					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						TGTGGAGGTCCCAGGAGCTGA	0.483000														15			7		0	0	0.003080	0	0
C6orf118	168090	broad.mit.edu	37	6	165715373	165715373	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:165715373G>A	uc003qum.4	-	1	474	c.438C>T	c.(436-438)ttC>ttT	p.F146F	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	146										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCACTGGAAGGAAATCCTCCT	0.627000														86			49		0	0	0.014410	0	0
NEBL	10529	broad.mit.edu	37	10	21185941	21185941	+	Silent	SNP	A	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:21185941A>C	uc001iqi.3	-	1	496	c.99T>G	c.(97-99)gtT>gtG	p.V33V	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.	33					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						AGTCTTCAATAACAGGCTTAT	0.363000														104			67		0	0	0.014410	0	0
THEMIS	387357	broad.mit.edu	37	6	128134804	128134804	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:128134804G>A	uc011ebt.2	-	3	1131	c.982C>T	c.(982-984)Cct>Tct	p.P328S	THEMIS_uc010kfa.3_Missense_Mutation_p.P231S|THEMIS_uc021zfa.1_Missense_Mutation_p.P328S|THEMIS_uc010kfb.3_Missense_Mutation_p.P293S	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	328	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						TGTCTTTTAGGAAAATTGCTT	0.458000														91			19		0	0	0.010504	0	0
GRIA3	2892	broad.mit.edu	37	X	122459933	122459934	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:122459933_122459934AC>TT	uc004etq.4	+	3	857_858	c.565_566AC>TT	c.(565-567)aca>TTa	p.T189L	GRIA3_uc004etr.4_Missense_Mutation_p.T189L|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.T173L	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	189					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CTGGCAAGTAACAGCAAGGTCT	0.426000														15			11		0	0	0.004672	0	0
MAD2L2	10459	broad.mit.edu	37	1	11735727	11735727	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:11735727G>A	uc001asp.3	-	6	901	c.489C>T	c.(487-489)atC>atT	p.I163I	MAD2L2_uc009vnc.3_Silent_p.I163I|MAD2L2_uc001asq.4_Silent_p.I163I	NM_006341	NP_006332	Q9UI95	MD2L2_HUMAN	Homo sapiens MAD2 mitotic arrest deficient-like 2 (yeast) (MAD2L2), transcript variant 2, mRNA.	163	HORMA.|Mediates interaction with ipaB.				DNA damage response, signal transduction resulting in transcription|cell division|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-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;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGATGACCTGGATCTTCTCCA	0.617000								DNA polymerases (catalytic subunits)						81			51		0	0	0.014410	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21792854	21792854	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:21792854G>A	uc001wag.3	+	13	1840	c.1840G>A	c.(1840-1842)Gat>Aat	p.D614N	RPGRIP1_uc001wah.3_Missense_Mutation_p.D256N|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001waj.1_Missense_Mutation_p.D79N|RPGRIP1_uc001wak.3_Missense_Mutation_p.D89N|RPGRIP1_uc010aim.3_Intron|RPGRIP1_uc001wal.3_Silent_p.R22R|RPGRIP1_uc001wam.3_5'UTR	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	614					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TGGAGATGAGGATAAAGTGGA	0.502000														75			41		0	0	0.010771	0	0
PCDH18	54510	broad.mit.edu	37	4	138452065	138452065	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:138452065C>T	uc003ihe.4	-	0	1565	c.1178G>A	c.(1177-1179)gGa>gAa	p.G393E	PCDH18_uc003ihf.4_Missense_Mutation_p.G386E|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.G173E|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	393	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AACTATTTCTCCATTCAGCCC	0.353000														54			26		0	0	0.008361	0	0
PEG3	5178	broad.mit.edu	37	19	57286165	57286165	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:57286165C>T	uc002qnr.2	-	10	1857	c.1475G>A	c.(1474-1476)aGg>aAg	p.R492K	BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_Missense_Mutation_p.R288K|PEG3_uc010ygq.1_Missense_Mutation_p.R288K|PEG3_uc010etp.2_Missense_Mutation_p.R492K|PEG3_uc010ygs.1_Missense_Mutation_p.R492K|PEG3_uc002qnq.2_Missense_Mutation_p.R492K	NM_015363	NP_056178	Q9GZU2	PEG3_HUMAN	Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA.	625					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)		CTGGTAAGGCCTCTCTTGAGT	0.463000														43			11		0	0	0.010729	0	0
HMCN1	83872	broad.mit.edu	37	1	186047260	186047260	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:186047260C>T	uc001grq.1	+	54	8736	c.8507C>T	c.(8506-8508)cCt>cTt	p.P2836L	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2836	Ig-like C2-type 26.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGCAGATTCCTCGGGCTAAA	0.428000														27			12		0	0	0.002450	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119120819	119120819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:119120819C>T	uc003ecj.4	+	9	1752	c.1220C>T	c.(1219-1221)gCt>gTt	p.A407V		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	407					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CCTCCCGGGGCTGAGGGTGGC	0.627000														21			24		0	0	0.005443	0	0
UGT2A1	10941	broad.mit.edu	37	4	70504802	70504802	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:70504802G>A	uc011caq.2	-	2	1276	c.1160C>T	c.(1159-1161)tCa>tTa	p.S387L	UGT2A1_uc010ihu.3_Intron|UGT2A1_uc003hem.4_Intron|UGT2A1_uc010ihs.3_Missense_Mutation_p.S186L|UGT2A1_uc021xox.1_Missense_Mutation_p.S186L|UGT2A1_uc010iht.3_Intron	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	177					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CTCCACTGTTGATGCTGGAGA	0.453000														25			15		0	0	0.004007	0	0
C20orf151	140893	broad.mit.edu	37	20	60990935	60990935	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:60990935G>A	uc002ycw.2	-	6	650	c.453C>T	c.(451-453)tcC>tcT	p.S151S		NM_080833	NP_543023	Q8NC74	CT151_HUMAN	Homo sapiens chromosome 20 open reading frame 151 (C20orf151), mRNA.	151										large_intestine(3)|lung(3)|prostate(1)|skin(4)|stomach(1)	12	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;6.43e-06)			AGCCACCAGGGGAGGGGAGCA	0.692000														16			7		0	0	0.003080	0	0
HHATL	57467	broad.mit.edu	37	3	42738519	42738519	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:42738519G>A	uc003clw.3	-	8	1131	c.984C>T	c.(982-984)atC>atT	p.I328I	HHATL_uc003clx.3_Silent_p.I328I	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	Homo sapiens hedgehog acyltransferase-like (HHATL), transcript variant 1, mRNA.	328					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		AGAGTGCGGTGATGCACTTGG	0.627000														34			16		0	0	0.007413	0	0
HOXA2	3199	broad.mit.edu	37	7	27142044	27142044	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:27142044G>A	uc003syh.3	-	0	351	c.76C>T	c.(76-78)Ccc>Tcc	p.P26S	HOXA2_uc022aaq.1_Missense_Mutation_p.P26S	NM_006735	NP_006726	O43364	HXA2_HUMAN	Homo sapiens homeobox A2 (HOXA2), mRNA.	26						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						GCGACAGGGGGAAAAGATGTC	0.498000														104			20		0	0	0.008871	0	0
CECR2	27443	broad.mit.edu	37	22	18028387	18028387	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:18028387C>T	uc010gqw.1	+	15	3338	c.3338C>T	c.(3337-3339)cCa>cTa	p.P1113L	CECR2_uc010gqv.1_Missense_Mutation_p.P973L|CECR2_uc002zml.2_Missense_Mutation_p.P974L|CECR2_uc002zmo.2_Non-coding_Transcript	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	1157					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CACATCAGTCCAGGCCTGCAG	0.587000														18			10		0	0	0.008291	0	0
SNRNP70	6625	broad.mit.edu	37	19	49611065	49611065	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:49611065C>T	uc002pmk.3	+	9	1118	c.679C>T	c.(679-681)Ccg>Tcg	p.P227S	SNRNP70_uc002pmh.2_Intron|SNRNP70_uc002pmm.3_Non-coding_Transcript|SNRNP70_uc021uxh.1_Silent_p.P13P	NM_003089	NP_003080	P08621	RU17_HUMAN	Homo sapiens small nuclear ribonucleoprotein 70kDa (U1) (SNRNP70), mRNA.	227					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	RNA binding|nucleotide binding|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						CGGCCCCTCCCCGCTTCCGCA	0.731000														9			4		0	0	0.000602	0	0
GRID2	2895	broad.mit.edu	37	4	93511390	93511390	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:93511390C>T	uc011cdt.2	+	1	455	c.197C>T	c.(196-198)tCa>tTa	p.S66L	GRID2_uc010ikx.3_Missense_Mutation_p.S66L|GRID2_uc011cdu.2_Missense_Mutation_p.S66L	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	66					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATCACATTTTCAGTGACGTTT	0.393000														91			19		0	0	0.007413	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140764713	140764713	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140764713C>T	uc003lka.2	+	0	2247	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	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_uc003lkb.4_5'Flank|PCDHGC5_uc003lkc.2_5'Flank|PCDHGC5_uc003ljz.1_Silent_p.F749F	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	759					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)			TGCAGGCTTTCCTGCAGACCT	0.607000														37			28		0	0	0.007291	0	0
C2orf73	129852	broad.mit.edu	37	2	54587394	54587394	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:54587394C>T	uc002rxt.1	+	4	601	c.559C>T	c.(559-561)Cct>Tct	p.P187S	C2orf73_uc010yor.1_Missense_Mutation_p.P129S|C2orf73_uc002rxs.1_Missense_Mutation_p.P66S|C2orf73_uc010yos.1_Non-coding_Transcript	NM_001100396	NP_001093866	Q8N5S3	CB073_HUMAN	Homo sapiens chromosome 2 open reading frame 73 (C2orf73), mRNA.	187										breast(2)	2						GCCAACAGTTCCTAAAGGAGC	0.443000														12			3		0	0	0.004672	0	0
BSDC1	55108	broad.mit.edu	37	1	32846866	32846866	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:32846866G>A	uc001bvi.3	-	4	459	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	BSDC1_uc001bvh.4_Missense_Mutation_p.R121C|BSDC1_uc010ohg.2_Missense_Mutation_p.R138C|BSDC1_uc010ohh.2_Missense_Mutation_p.R65C|BSDC1_uc010ohi.2_Missense_Mutation_p.R26C|BSDC1_uc001bvg.4_Non-coding_Transcript|BSDC1_uc001bvj.3_Missense_Mutation_p.R17C			Q9NW68	BSDC1_HUMAN	Homo sapiens BSD domain containing 1 (BSDC1), transcript variant 1, mRNA.	121							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTATAGAGGCGAGCCTGTAAG	0.502000														21			7		0	0	0.003080	0	0
THSD7B	80731	broad.mit.edu	37	2	137748477	137748477	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:137748477G>A	uc002tva.1	+	0	16	c.16G>A	c.(16-18)Gat>Aat	p.D6N	THSD7B_uc010zbj.1_Intron	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)		TAACACAGCAGATGAGGTGGT	0.393000														6			5		0	0	0.001984	0	0
OR2M7	391196	broad.mit.edu	37	1	248487377	248487377	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:248487377G>A	uc010pzk.2	-	0	494	c.494C>T	c.(493-495)tCc>tTc	p.S165F		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTAGGAGAAGGAAAATGTCGC	0.453000														142			85		0	0	0.014410	0	0
FAM134A	79137	broad.mit.edu	37	2	220047130	220047130	+	Missense_Mutation	SNP	C	T	T	rs145044869		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:220047130C>T	uc002vjw.4	+	8	1547	c.1411C>T	c.(1411-1413)Ccc>Tcc	p.P471S	FAM134A_uc010fwc.3_Missense_Mutation_p.P264S|FAM134A_uc002vjx.3_Intron	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	Homo sapiens family with sequence similarity 134, member A (FAM134A), mRNA.	471						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCACCTGTTCCCCAGGACTC	0.617000														42			33		0	0	0.003755	0	0
OR11L1	391189	broad.mit.edu	37	1	248004409	248004409	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:248004409G>A	uc001idn.1	-	0	790	c.790C>T	c.(790-792)Ccc>Tcc	p.P264S		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	264					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)			AACAGGTGGGGACTGGGACAC	0.498000														48			25		0	0	0.003954	0	0
DSG1	1828	broad.mit.edu	37	18	28914104	28914104	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:28914104G>A	uc002kwp.3	+	7	1156	c.944G>A	c.(943-945)gGa>gAa	p.G315E		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	315	Cadherin 3.				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)			GGAAATGAAGGAAATTGGTTT	0.299000														46			47		0	0	0.014410	0	0
FERMT1	55612	broad.mit.edu	37	20	6065719	6065719	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:6065719G>A	uc002wmr.3	-	11	2376	c.1587C>T	c.(1585-1587)tcC>tcT	p.S529S	FERMT1_uc002wmq.3_Silent_p.S82S|FERMT1_uc010gbt.3_Silent_p.S272S	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	529	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GTACCTGTTTGGATTTGTGTC	0.423000														40			32		0	0	0.009535	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439845	150439845	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:150439845G>A	uc022apw.1	+	5	1370	c.1230G>A	c.(1228-1230)gtG>gtA	p.V410V	GIMAP1-GIMAP5_uc003whr.2_Silent_p.V206V	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		TCCTGGCTGTGATTGAGAGGC	0.602000														48			31		0	0	0.008361	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29437927	29437927	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:29437927G>A	uc002kxc.4	-	19	3128	c.2764C>T	c.(2764-2766)Cct>Tct	p.P922S	TRAPPC8_uc002kxb.4_Missense_Mutation_p.P868S|TRAPPC8_uc002kxd.4_Intron	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.	922					ER to Golgi vesicle-mediated transport	cis-Golgi network		p.P922S(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGCCCTGTAGGAAAATGTATA	0.333000														71			53		0	0	0.014410	0	0
ASCC3	10973	broad.mit.edu	37	6	101090562	101090562	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:101090562G>A	uc003pqk.3	-	23	4125	c.3796C>T	c.(3796-3798)Caa>Taa	p.Q1266*		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	1266	SEC63 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		ATGTAGTATTGGGAAGGCAAA	0.373000														48			31		0	0	0.008361	0	0
DHX38	9785	broad.mit.edu	37	16	72132922	72132922	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:72132922C>T	uc002fcb.3	+	5	1216	c.861C>T	c.(859-861)acC>acT	p.T287T	DHX38_uc010vmp.2_Intron|DHX38_uc010cgn.1_Non-coding_Transcript	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	287					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TGGGGTCCACCCCGCGTCTGT	0.622000														29			7		0	0	0.003080	0	0
ZNF676	163223	broad.mit.edu	37	19	22362772	22362772	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:22362772G>A	uc002nqs.1	-	2	2065	c.1747C>T	c.(1747-1749)Cat>Tat	p.H583Y		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTCCAGTATGAATTTTCTTA	0.343000														28			12		0	0	0.010729	0	0
HDAC6	10013	broad.mit.edu	37	X	48674442	48674442	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:48674442C>T	uc011mmi.1	+	16	1571	c.1476C>T	c.(1474-1476)caC>caT	p.H492H	HDAC6_uc004dks.1_Silent_p.H492H|HDAC6_uc010nig.1_Silent_p.H340H|HDAC6_uc004dkt.1_Silent_p.H492H|HDAC6_uc011mmk.1_Silent_p.H473H|HDAC6_uc004dkv.1_Silent_p.H140H|HDAC6_uc004dkw.1_Silent_p.H140H	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	Homo sapiens histone deacetylase 6 (HDAC6), mRNA.	492	Histone deacetylase 2.				Hsp90 deacetylation|aggresome assembly|cellular response to hydrogen peroxide|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	Hsp90 protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|microtubule binding|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TGATGAATCACTGCAACTTGT	0.567000														11			25		0	0	0.004656	0	0
C8orf47	203111	broad.mit.edu	37	8	99101565	99101565	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:99101565G>A	uc003yih.1	+	1	468	c.320G>A	c.(319-321)gGa>gAa	p.G107E	C8orf47_uc022ayz.1_Intron	NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	Homo sapiens chromosome 8 open reading frame 47 (C8orf47), transcript variant 1, mRNA.	107										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			ACTCAGCCTGGAGAGGGACTG	0.577000														56			30		0	0	0.008361	0	0
GYPA	2993	broad.mit.edu	37	4	144922345	144922345	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:144922345C>T	uc003ijm.1	-	1	185	c.129G>A	c.(127-129)caG>caA	p.Q43Q	GYPA_uc003ijn.2_Intron|GYPA_uc010ioo.1_Non-coding_Transcript|GYPA_uc010iop.2_Non-coding_Transcript|GYPA_uc011chv.1_Intron|GYPA_uc011chw.1_Intron|GYPA_uc011chx.1_Intron|GYPA_uc011chy.1_Non-coding_Transcript|GYPA_uc011chs.1_Non-coding_Transcript|GYPA_uc011cht.1_Non-coding_Transcript|GYPA_uc011chu.1_Non-coding_Transcript|GYPA_uc011chz.2_Non-coding_Transcript	NM_002100	NP_002091	P02724	GLPA_HUMAN	Homo sapiens glycophorin B (MNS blood group) (GYPB), mRNA.	43					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					AACCATTTGTCTGTGATGAGA	0.373000														75			29		0	0	0.005524	0	0
TDRD5	163589	broad.mit.edu	37	1	179609005	179609005	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:179609005C>T	uc010pnp.2	+	9	2070	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	TDRD5_uc021pfm.1_Nonsense_Mutation_p.R518*|TDRD5_uc001gnf.2_Nonsense_Mutation_p.R518*|TDRD5_uc021pfn.1_Nonsense_Mutation_p.R518*|TDRD5_uc001gnh.2_Nonsense_Mutation_p.R73*	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	518					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						GGTTTCTGATCGATATGTCAT	0.383000														96			54		0	0	0.014410	0	0
LRRC30	339291	broad.mit.edu	37	18	7231809	7231809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:7231809C>T	uc010wzk.2	+	0	673	c.673C>T	c.(673-675)Ccg>Tcg	p.P225S		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	225								p.P225P(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCACTCCTTCCCGAGGTCGCT	0.582000														35			16		0	0	0.004007	0	0
BPI	671	broad.mit.edu	37	20	36954783	36954783	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:36954783C>T	uc002xib.2	+	9	1184	c.1122C>T	c.(1120-1122)gcC>gcT	p.A374A		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	374					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				ATGTCCAGGCCTTTGCCGTCC	0.592000														20			11		0	0	0.001855	0	0
KANK4	163782	broad.mit.edu	37	1	62738893	62738893	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:62738893G>A	uc001dah.4	-	2	2260	c.1883C>T	c.(1882-1884)tCc>tTc	p.S628F	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	628										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CGGGGAGGAGGAGGAGGCCGG	0.577000														35			22		0	0	0.004656	0	0
CSH2	1443	broad.mit.edu	37	17	61950972	61950972	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:61950972C>T	uc002jch.3	-	0	118	c.3G>A	c.(1-3)atG>atA	p.M1I	CSH2_uc002jci.3_Missense_Mutation_p.M1I|CSH2_uc002jcg.3_Missense_Mutation_p.M1I	NM_020991	NP_066271	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA.	1					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						TACCTGCAGCCATTGCCGCTA	0.602000														35			7		0	0	0.006122	0	0
IRX3	79191	broad.mit.edu	37	16	54318800	54318800	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:54318800C>T	uc002eht.1	-	1	1409	c.993G>A	c.(991-993)ctG>ctA	p.L331L		NM_024336	NP_077312	P78415	IRX3_HUMAN	Homo sapiens iroquois homeobox 3 (IRX3), mRNA.	331	Pro-rich.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						CGCAGGGGTCCAGGCTCACGG	0.721000														8			7		0	0	0.003080	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140724380	140724380	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140724380G>A	uc003ljm.2	+	0	780	c.780G>A	c.(778-780)cgG>cgA	p.R260R	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.R260R	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	260	Cadherin 3.				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)			TGGGTACCCGGCTGCTCACGG	0.483000														31			20		0	0	0.003954	0	0
SCG2	7857	broad.mit.edu	37	2	224462859	224462859	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:224462859G>A	uc021vxk.1	-	0	1142	c.1142C>T	c.(1141-1143)cCg>cTg	p.P381L	SCG2_uc002vnm.3_Missense_Mutation_p.P381L	NM_003469	NP_003460	P13521	SCG2_HUMAN	Homo sapiens secretogranin II (SCG2), mRNA.	381					MAPKKK cascade|angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	p.P381L(2)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		CTCCCGCTCCGGTTCCACTGA	0.468000														51			8		0	0	0.004482	0	0
C17orf48	56985	broad.mit.edu	37	17	10608567	10608568	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:10608567_10608568GG>AA	uc002gmt.3	+	1	399_400	c.324_325GG>AA	c.(322-327)tgggga>tgAAga	p.108_109WG>*R	C17orf48_uc002gmv.3_Non-coding_Transcript|C17orf48_uc002gmu.3_Non-coding_Transcript|C17orf48_uc010vvg.1_Nonsense_Mutation_p.108_109WG>*R	NM_020233	NP_064618	Q3LIE5	ADPRM_HUMAN	Homo sapiens chromosome 17 open reading frame 48 (C17orf48), mRNA.	108							ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding			breast(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						ATCATACATGGGGAAACCATGA	0.356000														18			30		0	0	0.004672	0	0
C1orf130	400746	broad.mit.edu	37	1	24932237	24932237	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:24932237G>A	uc001bjk.2	+	3	409	c.308G>A	c.(307-309)tGa>tAa	p.*103*		NM_001010980	NP_001010980	Q5T1S8	CA130_HUMAN	Homo sapiens chromosome 1 open reading frame 130 (C1orf130), mRNA.	0						integral to membrane				large_intestine(1)	1		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0119)|all_lung(284;0.0154)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0439)|OV - Ovarian serous cystadenocarcinoma(117;1.48e-24)|Colorectal(126;6.93e-08)|COAD - Colon adenocarcinoma(152;3.69e-06)|GBM - Glioblastoma multiforme(114;0.00036)|BRCA - Breast invasive adenocarcinoma(304;0.00189)|KIRC - Kidney renal clear cell carcinoma(1967;0.00382)|STAD - Stomach adenocarcinoma(196;0.00521)|READ - Rectum adenocarcinoma(331;0.0659)|Lung(427;0.144)		GAGACGCGATGACCTCTACCC	0.582000														44			12		0	0	0.013537	0	0
SRGAP3	9901	broad.mit.edu	37	3	9166511	9166511	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:9166511A>G	uc003brf.1	-	1	834	c.158T>C	c.(157-159)tTc>tCc	p.F53S	SRGAP3_uc003brg.1_Missense_Mutation_p.F53S|SRGAP3_uc003bri.1_Non-coding_Transcript|SRGAP3_uc003brk.3_Missense_Mutation_p.F53S	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	53	FCH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TTTCCGGCGGAAAAACTCCTG	0.592000			T	RAF1	pilocytic astrocytoma									45			22		0	0	0.012319	0	0
PROX2	283571	broad.mit.edu	37	14	75330436	75330436	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:75330436C>T	uc021rwo.1	-	0	102	c.102G>A	c.(100-102)ctG>ctA	p.L34L	PROX2_uc001xqp.2_Silent_p.L34L|PROX2_uc001xqq.2_Silent_p.L34L	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	34					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		AGTCTCTATCCAGCTCTGGAG	0.572000														44			17		0	0	0.006122	0	0
GALNT14	79623	broad.mit.edu	37	2	31167752	31167752	+	Missense_Mutation	SNP	G	A	A	rs138204092		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:31167752G>A	uc002rns.3	-	8	1454	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	GALNT14_uc002rnq.3_Missense_Mutation_p.R247W|GALNT14_uc010ymr.2_Missense_Mutation_p.R232W|GALNT14_uc002rnr.3_Missense_Mutation_p.R267W|GALNT14_uc010ezo.2_Missense_Mutation_p.R234W|GALNT14_uc010ezp.1_Intron	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	267						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TCCAGGCGCCGAGCCTTCTGC	0.592000														44			18		0	0	0.006122	0	0
EXOC6	54536	broad.mit.edu	37	10	94715422	94715422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:94715422C>T	uc010qnr.2	+	17	1915	c.1772C>T	c.(1771-1773)tCc>tTc	p.S591F	EXOC6_uc001kie.3_Missense_Mutation_p.S570F|EXOC6_uc001kig.3_Missense_Mutation_p.S575F|EXOC6_uc009xub.3_Missense_Mutation_p.S574F|EXOC6_uc009xuc.3_Missense_Mutation_p.S472F|EXOC6_uc001kih.3_Non-coding_Transcript|EXOC6_uc001kii.3_Missense_Mutation_p.S149F	NM_001013848	NP_001013870	Q8TAG9	EXOC6_HUMAN	Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA.	575					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				ACAAATATTTCCCAAGAAACT	0.333000														98			83		0	0	0.014410	0	0
PIK3CD	5293	broad.mit.edu	37	1	9780172	9780172	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:9780172G>A	uc001aqe.4	+	9	1445	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	PIK3CD_uc001aqb.4_Missense_Mutation_p.E448K|PIK3CD_uc010oaf.2_Missense_Mutation_p.E448K|PIK3CD_uc021ogb.1_Missense_Mutation_p.E232K	NM_005026	NP_005017	O00329	PK3CD_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, delta polypeptide (PIK3CD), mRNA.	448					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GTGTTCAGATGAGAAGGGCGA	0.652000														58			34		0	0	0.005524	0	0
CSMD1	64478	broad.mit.edu	37	8	2876151	2876151	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:2876151G>A	uc022aqr.1	-	51	8267	c.7877C>T	c.(7876-7878)tCc>tTc	p.S2626F	CSMD1_uc011kwj.2_Missense_Mutation_p.S1956F|CSMD1_uc010lrg.3_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2627	Sushi 17.					integral to membrane		p.S2355F(1)|p.S2626F(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGGGGGAAAGGAAAGGCTTCC	0.423000														78			44		0	0	0.011902	0	0
RXFP4	339403	broad.mit.edu	37	1	155911999	155911999	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:155911999G>A	uc010pgs.2	+	0	520	c.499G>A	c.(499-501)Gcg>Acg	p.A167T		NM_181885	NP_871001	Q8TDU9	RL3R2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 4 (RXFP4), mRNA.	167						integral to membrane|plasma membrane	angiotensin type II receptor activity			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGCAGTGTGGGCGGCGGCTGC	0.672000														44			41		0	0	0.009718	0	0
AMTN	401138	broad.mit.edu	37	4	71396865	71396865	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:71396865G>A	uc003hfk.1	+	7	556	c.467G>A	c.(466-468)gGa>gAa	p.G156E	AMTN_uc010ihy.1_Missense_Mutation_p.G155E	NM_212557	NP_997722	Q6UX39	AMTN_HUMAN	Homo sapiens amelotin (AMTN), mRNA.	156					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			CTTCCAGCAGGAGGAGCAGGT	0.607000														26			17		0	0	0.004990	0	0
DACH2	117154	broad.mit.edu	37	X	85969583	85969583	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:85969583C>T	uc004eew.2	+	5	1134	c.964C>T	c.(964-966)Ccc>Tcc	p.P322S	DACH2_uc004eex.2_Missense_Mutation_p.P309S|DACH2_uc010nmq.2_Missense_Mutation_p.P188S|DACH2_uc011mra.1_Missense_Mutation_p.P155S|DACH2_uc010nmr.2_Missense_Mutation_p.P103S|DACH2_uc004eey.3_Missense_Mutation_p.P5S|DACH2_uc004eez.3_Missense_Mutation_p.P5S	NM_053281	NP_001132987	Q96NX9	DACH2_HUMAN	Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA.	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.P322H(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GATGCCTCATCCCCTACTTCC	0.403000														14			41		0	0	0.014410	0	0
UGT2A1	10941	broad.mit.edu	37	4	70512791	70512791	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:70512791G>A	uc011caq.2	-	1	688	c.572C>T	c.(571-573)tCc>tTc	p.S191F	UGT2A1_uc010ihu.3_Missense_Mutation_p.S191F|UGT2A1_uc003hem.4_Missense_Mutation_p.S191F|UGT2A1_uc010iht.3_Missense_Mutation_p.S191F	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	191					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGGAACATAGGAAGGAGGGTA	0.408000														30			21		0	0	0.014323	0	0
SLC28A2	9153	broad.mit.edu	37	15	45545416	45545416	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:45545416G>A	uc001zva.2	+	1	68	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	1					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		AACAGGAGATGGAGAAAGCAA	0.483000														16			19		0	0	0.010504	0	0
TBC1D21	161514	broad.mit.edu	37	15	74178861	74178861	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:74178861G>A	uc002avz.3	+	7	768	c.685G>A	c.(685-687)Ggt>Agt	p.G229S	TBC1D21_uc010ulc.2_Missense_Mutation_p.G193S	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN	Homo sapiens TBC1 domain family, member 21 (TBC1D21), mRNA.	229	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						AGAAGGGAAGGGTGCAGGGGC	0.557000														41			24		0	0	0.003954	0	0
NLRP8	126205	broad.mit.edu	37	19	56467267	56467267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:56467267G>A	uc002qmh.3	+	2	1914	c.1843G>A	c.(1843-1845)Gaa>Aaa	p.E615K	NLRP8_uc010etg.3_Missense_Mutation_p.E615K	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	615						cytoplasm	ATP binding	p.E615K(2)		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)		CTGTCTGCATGAAATCCGGGA	0.443000														39			16		0	0	0.004990	0	0
ABCC12	94160	broad.mit.edu	37	16	48119552	48119552	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:48119552C>T	uc002efc.1	-	26	4126	c.3780G>A	c.(3778-3780)ggG>ggA	p.G1260G	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	1260	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GCTGACGTTCCCCTACTGAGA	0.413000														45			37		0	0	0.006230	0	0
GABBR1	2550	broad.mit.edu	37	6	29598337	29598337	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:29598337C>T	uc003nmt.4	-	3	709	c.373G>A	c.(373-375)Gcc>Acc	p.A125T	GABBR1_uc003nmp.4_5'Flank|GABBR1_uc003nms.4_5'Flank|GABBR1_uc003nmu.4_Intron|GABBR1_uc011dlr.2_5'UTR|GABBR1_uc011dls.1_Missense_Mutation_p.A125T	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	125	Sushi 2.				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	TCCACCCGGGCTCCGTCCAGA	0.597000														49			27		0	0	0.007291	0	0
DLK1	8788	broad.mit.edu	37	14	101198519	101198519	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:101198519G>A	uc001yhs.4	+	4	608	c.404_splice	c.e4+1	p.G135_splice	DLK1_uc001yhu.4_Splice_Site_p.G135_splice|DLK1_uc021sbs.1_5'Flank	NM_003836	NP_003827	P80370	DLK1_HUMAN	Homo sapiens delta-like 1 homolog (Drosophila) (DLK1), mRNA.	135	EGF-like 4.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				TGTGATCAACGGGTAAATATC	0.542000														49			22		0	0	0.005443	0	0
IPO9	55705	broad.mit.edu	37	1	201838745	201838745	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:201838745G>A	uc001gwz.3	+	16	2082	c.2032G>A	c.(2032-2034)Gta>Ata	p.V678I		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	Homo sapiens importin 9 (IPO9), mRNA.	678					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						GACAACAGTAGTACGAAATAC	0.483000														62			33		0	0	0.004878	0	0
XKR6	286046	broad.mit.edu	37	8	10755867	10755867	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:10755867G>A	uc003wtk.1	-	2	1548	c.1521C>T	c.(1519-1521)atC>atT	p.I507I		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	507						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		AGCTGGCAAGGATCTTAGCTC	0.582000														21			16		0	0	0.004007	0	0
ADCY10	55811	broad.mit.edu	37	1	167815465	167815465	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:167815465G>A	uc001ger.3	-	19	2772	c.2474C>T	c.(2473-2475)tCc>tTc	p.S825F	ADCY10_uc010plj.2_Missense_Mutation_p.S672F|ADCY10_uc009wvk.3_Missense_Mutation_p.S733F|ADCY10_uc009wvl.3_Missense_Mutation_p.S824F	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	825					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CATTTGGTGGGAAAGTCTCAT	0.418000														93			59		0	0	0.014410	0	0
MGAM	8972	broad.mit.edu	37	7	141722220	141722220	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:141722220G>A	uc003vwy.3	+	6	917	c.863G>A	c.(862-864)aGa>aAa	p.R288K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	288	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATATTTAACAGAGACACAACT	0.458000														82			8		0	0	0.004482	0	0
LPHN2	23266	broad.mit.edu	37	1	82456395	82456395	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:82456395C>T	uc001dit.4	+	20	3959	c.3778C>T	c.(3778-3780)Ctg>Ttg	p.L1260L	LPHN2_uc001dis.3_Silent_p.L240L|LPHN2_uc001diu.3_Silent_p.L1260L|LPHN2_uc001div.3_3'UTR|LPHN2_uc009wcd.3_3'UTR|LPHN2_uc001diw.3_Silent_p.L887L	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	1316					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)		CAACCCAGGGCTGGAGCTCCA	0.512000														88			29		0	0	0.003271	0	0
TRPC7	57113	broad.mit.edu	37	5	135583173	135583173	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:135583173G>A	uc003lbn.2	-	6	2052	c.1830C>T	c.(1828-1830)aaC>aaT	p.N610N	TRPC7_uc010jef.2_Silent_p.N546N|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Silent_p.N161N|TRPC7_uc010jeh.2_Silent_p.N549N|TRPC7_uc010jei.2_Silent_p.N494N	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	610					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)			TAAACGCTGGGTTGTATTTGG	0.473000														23			33		0	0	0.012213	0	0
MEI1	150365	broad.mit.edu	37	22	42191744	42191744	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:42191744G>A	uc003baz.1	+	29	3697	c.3672G>A	c.(3670-3672)caG>caA	p.Q1224Q	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_Silent_p.Q610Q|MEI1_uc003bbc.1_Silent_p.Q592Q|MEI1_uc010gym.1_Silent_p.Q557Q|MEI1_uc003bbd.1_Silent_p.Q437Q|MEI1_uc010gyn.1_Non-coding_Transcript|MEI1_uc003bbe.1_Non-coding_Transcript|MEI1_uc003bbg.2_Silent_p.Q194Q	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	1224							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGCAGCTCCAGAGCATGGGAC	0.642000														29			13		0	0	0.001855	0	0
VPS13A	23230	broad.mit.edu	37	9	79959077	79959077	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:79959077C>T	uc004akr.3	+	50	7295	c.7035C>T	c.(7033-7035)ccC>ccT	p.P2345P	VPS13A_uc004akp.4_Silent_p.P2345P|VPS13A_uc004akq.4_Silent_p.P2345P|VPS13A_uc004aks.3_Silent_p.P2306P	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	2345					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGTGTATCCCCTTTTGGCCTG	0.284000														23			19		0	0	0.006122	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140249015	140249015	+	Silent	SNP	C	T	T	rs73793507		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140249015C>T	uc003lia.2	+	0	1185	c.327C>T	c.(325-327)atC>atT	p.I109I	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_Silent_p.I109I	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	124	Cadherin 1.				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)			TGGAGGTGATCGTGGACAGGC	0.547000														176			40		0	0	0.007835	0	0
ID2	3398	broad.mit.edu	37	2	8822544	8822544	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:8822544C>T	uc002qza.3	+	0	432	c.249C>T	c.(247-249)ccC>ccT	p.P83P		NM_002166	NP_002157	Q02363	ID2_HUMAN	Homo sapiens inhibitor of DNA binding 2, dominant negative helix-loop-helix protein (ID2), mRNA.	83					cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent	protein complex	protein binding			breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACTCGCATCCCACTATTGTCA	0.582000														37			12		0	0	0.001855	0	0
FAM75A3	727830	broad.mit.edu	37	9	40702812	40702812	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:40702812C>T	uc010mmj.3	+	3	498	c.469C>T	c.(469-471)Cct>Tct	p.P157S		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	Homo sapiens family with sequence similarity 75, member A3 (FAM75A3), mRNA.	157	Pro-rich.					integral to membrane		p.P157T(3)|p.D156N(1)		kidney(1)|large_intestine(2)|lung(18)|ovary(3)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTCCCCGGATCCTCAAGCCAA	0.587000														207			89		0	0	0.014410	0	0
KIAA1109	84162	broad.mit.edu	37	4	123274229	123274229	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:123274229C>T	uc003ieh.3	+	78	14065	c.14020C>T	c.(14020-14022)Cgt>Tgt	p.R4674C	KIAA1109_uc003iem.3_Missense_Mutation_p.R1030C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	4674					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCCAAATTTTCGTTCAAAATC	0.368000														46			22		0	0	0.014323	0	0
TANC1	85461	broad.mit.edu	37	2	160087160	160087161	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:160087160_160087161CC>TT	uc002uag.3	+	26	5497_5498	c.5223_5224CC>TT	c.(5221-5226)agccgc>agTTgc	p.R1742C	TANC1_uc010zcm.2_3'UTR|TANC1_uc010fon.3_Missense_Mutation_p.R586C	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	1742						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						ATCCTCCAAGCCGCAGCTGGCA	0.579000														75			29		0	0	0.004672	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558431	129558431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:129558431C>T	uc009zyl.1	-	8	3617	c.3289G>A	c.(3289-3291)Gaa>Aaa	p.E1097K	TMEM132D_uc001uia.2_Missense_Mutation_p.E635K	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	1097						integral to membrane		p.E1097K(2)		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)		TACACATTTTCATGTAACCTC	0.493000														72			35		0	0	0.006999	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815257	106815257	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:106815257C>T	uc003ymd.3	+	7	2970	c.2947C>T	c.(2947-2949)Cca>Tca	p.P983S	ZFPM2_uc011lhs.2_Missense_Mutation_p.P714S	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	983					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)			CCAGCTTTCTCCATATTATGG	0.388000														9			8		0	0	0.004482	0	0
STARD3	10948	broad.mit.edu	37	17	37814692	37814692	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:37814692C>T	uc002hsd.3	+	5	667	c.464C>T	c.(463-465)cCc>cTc	p.P155L	STARD3_uc010weg.2_3'UTR|STARD3_uc010wei.2_Missense_Mutation_p.P151S|STARD3_uc002hse.3_Missense_Mutation_p.P137L|STARD3_uc010weh.2_Non-coding_Transcript|STARD3_uc002hsf.3_Missense_Mutation_p.P21L	NM_006804	NP_006795	Q14849	STAR3_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 3 (STARD3), transcript variant 1, mRNA.	155	MENTAL.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TACCTGCTCCCCATCGTCTCT	0.592000														39			19		0	0	0.007413	0	0
WNK1	65125	broad.mit.edu	37	12	977792	977792	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:977792T>C	uc021qss.1	+	8	3543	c.2900T>C	c.(2899-2901)tTt>tCt	p.F967S	WNK1_uc001qio.4_Intron|WNK1_uc021qst.1_Missense_Mutation_p.F1052S|WNK1_uc001qip.4_Intron|WNK1_uc001qir.4_Intron|WNK1_uc001qiq.3_Missense_Mutation_p.F266S	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	0					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AACTGTGTATTTGAATTTCAT	0.438000														22			16		0	0	0.007413	0	0
HIST1H4H	8365	broad.mit.edu	37	6	26285536	26285536	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:26285536C>T	uc003nhm.2	-	0	192	c.192G>A	c.(190-192)gaG>gaA	p.E64E	HIST1H4H_uc003nhl.1_Non-coding_Transcript|TRNA_Met_uc021ymu.1_5'Flank	NM_003543	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4h (HIST1H4H), mRNA.	64			E -> Q (in a breast cancer sample; somatic mutation).		CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						GAATCACGTTCTCCAGGAACA	0.562000										HNSCC(76;0.23)				56			49		0	0	0.014410	0	0
ARMC4	55130	broad.mit.edu	37	10	28224174	28224174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:28224174C>T	uc009xky.3	-	15	2358	c.2260G>A	c.(2260-2262)Gaa>Aaa	p.E754K	ARMC4_uc010qds.2_Missense_Mutation_p.E279K|ARMC4_uc010qdt.2_Missense_Mutation_p.E446K|ARMC4_uc001itz.3_Missense_Mutation_p.E754K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	754							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GCTTTGTATTCCCGAAACCTA	0.398000														54			13		0	0	0.004007	0	0
TLR4	7099	broad.mit.edu	37	9	120475597	120475597	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:120475597G>A	uc004bjz.3	+	2	1482	c.1191G>A	c.(1189-1191)ggG>ggA	p.G397G	TLR4_uc004bkb.3_Silent_p.G197G|TLR4_uc004bka.3_Silent_p.G357G	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	397					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						GTGATTTTGGGACAACCAGCC	0.393000														7			18		0	0	0.004990	0	0
CDH26	60437	broad.mit.edu	37	20	58563960	58563960	+	Splice_Site	SNP	C	T	T	rs36098341		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:58563960C>T	uc002ybe.3	+	9	1335	c.1024_splice	c.e9-1	p.P342_splice	CDH26_uc002ybf.1_Splice_Site|CDH26_uc010zzy.2_Splice_Site	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	342	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GGGTTCCAGCCTTTGGATTAT	0.547000														34			18		0	0	0.006122	0	0
SH3RF2	153769	broad.mit.edu	37	5	145383698	145383698	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:145383698C>T	uc003lnt.3	+	3	964	c.726C>T	c.(724-726)ttC>ttT	p.F242F	SH3RF2_uc011dbl.1_Silent_p.F242F	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	242	SH3 2.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAGGCATCTTCCCTATCTTGT	0.433000														67			34		0	0	0.003271	0	0
RAB40B	10966	broad.mit.edu	37	17	80616565	80616565	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:80616565G>A	uc002kft.3	-	4	493	c.367C>T	c.(367-369)Ctg>Ttg	p.L123L	RAB40B_uc002kfs.3_Non-coding_Transcript	NM_006822	NP_006813	Q12829	RB40B_HUMAN	Homo sapiens RAB40B, member RAS oncogene family (RAB40B), mRNA.	123					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TTCCCCACCAGGATCTTGGGG	0.627000														25			16		0	0	0.004990	0	0
TBC1D15	64786	broad.mit.edu	37	12	72314523	72314523	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:72314523G>A	uc001swu.3	+	15	1738	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K	TBC1D15_uc001sww.3_Missense_Mutation_p.E309K|TBC1D15_uc010stt.2_Missense_Mutation_p.E546K|TBC1D15_uc001swv.3_Missense_Mutation_p.E538K	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	Homo sapiens TBC1 domain family, member 15 (TBC1D15), transcript variant 1, mRNA.	555	Rab-GAP TBC.						Rab GTPase activator activity|protein binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AATGTGGACCGAACTACCATG	0.343000														124			54		0	0	0.014410	0	0
JAG1	182	broad.mit.edu	37	20	10630183	10630183	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:10630183C>T	uc002wnw.2	-	9	1851	c.1335G>A	c.(1333-1335)caG>caA	p.Q445Q	JAG1_uc010gcd.1_Silent_p.Q3Q	NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	445	EGF-like 6; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TGTCACAATTCTGACCCATCC	0.468000									Alagille Syndrome					15			13		0	0	0.013537	0	0
PTPRD	5789	broad.mit.edu	37	9	8485270	8485270	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:8485270G>A	uc003zkk.3	-	28	3853	c.3110C>T	c.(3109-3111)tCt>tTt	p.S1037F	PTPRD_uc003zkp.3_Missense_Mutation_p.S626F|PTPRD_uc003zkq.3_Missense_Mutation_p.S626F|PTPRD_uc003zkr.3_Missense_Mutation_p.S621F|PTPRD_uc003zks.3_Missense_Mutation_p.S616F|PTPRD_uc022bdj.1_Missense_Mutation_p.S623F	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1037	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.L1036P(1)|p.L1036Q(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATCTCCCAAGACAGCAACAC	0.343000										TSP Lung(15;0.13)				11			16		0	0	0.008871	0	0
USP29	57663	broad.mit.edu	37	19	57642699	57642699	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:57642699G>A	uc002qny.3	+	3	3012	c.2656G>A	c.(2656-2658)Ggg>Agg	p.G886R	USP29_uc021vci.1_Missense_Mutation_p.G886R	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	886					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATGCACAATGGGATTTTTGA	0.463000														43			21		0	0	0.008871	0	0
HSPB1	3315	broad.mit.edu	37	7	75933416	75933416	+	Missense_Mutation	SNP	C	T	T	rs104894020		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:75933416C>T	uc003uew.3	+	2	699	c.544C>T	c.(544-546)Cca>Tca	p.P182S	HSPB1_uc010ldj.2_Non-coding_Transcript|AX747594_uc003uey.1_5'Flank	NM_001540	NP_001531	P04792	HSPB1_HUMAN	Homo sapiens heat shock 27kDa protein 1 (HSPB1), mRNA.	182	Interaction with TGFB1I1 (By similarity).		P -> L (in HMN2B).		anti-apoptosis|cell death|cellular component movement|mRNA metabolic process|positive regulation of interleukin-1 beta production|positive regulation of tumor necrosis factor biosynthetic process|regulation of I-kappaB kinase/NF-kappaB cascade|regulation of translational initiation|response to heat|response to unfolded protein|response to virus	cell surface|cytosol|nucleus|proteasome complex|spindle	identical protein binding|protein kinase C delta binding|protein kinase C inhibitor activity|ubiquitin binding			large_intestine(1)|lung(3)	4						GATCACCATCCCAGTCACCTT	0.637000														12			5		0	0	0.003080	0	0
SNTG1	54212	broad.mit.edu	37	8	51617288	51617288	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:51617288C>T	uc010lxy.1	+	16	1538	c.1167C>T	c.(1165-1167)acC>acT	p.T389T	SNTG1_uc003xqs.1_Silent_p.T389T|SNTG1_uc010lxz.1_Silent_p.T389T|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA.	389	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AGACAGCAACCTTTCTAGAAG	0.522000														23			18		0	0	0.007413	0	0
abParts	0	broad.mit.edu	37	22	22517004	22517004	+	RNA	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:22517004C>T	uc021wml.1	+	10		c.1030C>T								Parts of antibodies, mostly variable regions.																		TGACCGCTACCTCACCATCTC	0.532000														22			5		0	0	0.001984	0	0
HTR2C	3358	broad.mit.edu	37	X	114082605	114082605	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:114082605G>A	uc004epu.1	+	4	1117	c.389G>A	c.(388-390)tGg>tAg	p.W130*	HTR2C_uc010nqc.1_Nonsense_Mutation_p.W130*|HTR2C_uc004epv.1_Nonsense_Mutation_p.W130*	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	130					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TGCCCCGTCTGGATTTCTTTA	0.418000														23			51		0	0	0.014410	0	0
SLC25A37	51312	broad.mit.edu	37	8	23428980	23428980	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:23428980C>T	uc003xdo.3	+	3	782	c.629C>T	c.(628-630)cCc>cTc	p.P210L	SLC25A37_uc003xdp.3_Non-coding_Transcript|SLC25A37_uc003xdq.3_Non-coding_Transcript|SLC25A37_uc003xdr.1_Non-coding_Transcript|FP15737_uc003xds.3_5'Flank	NM_016612	NP_057696	Q9NYZ2	MFRN1_HUMAN	Homo sapiens solute carrier family 25, member 37 (SLC25A37), nuclear gene encoding mitochondrial protein, mRNA.	210					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		ATGAACATCCCCTTCCAGTCC	0.612000														37			23		0	0	0.004656	0	0
ZC3H13	23091	broad.mit.edu	37	13	46594614	46594614	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:46594614C>T	uc010tfw.1	-	3	424	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	ZC3H13_uc001vas.1_Missense_Mutation_p.E140K|ZC3H13_uc001vat.1_Missense_Mutation_p.E140K	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	140							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCTACATTTTCTTCTTCACTT	0.338000														39			14		0	0	0.002450	0	0
APC	324	broad.mit.edu	37	5	112154986	112154986	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:112154986C>T	uc003kpz.4	+	10	1450	c.1257C>T	c.(1255-1257)acC>acT	p.T419T	APC_uc011cvt.2_Silent_p.T401T|APC_uc003kpy.4_Silent_p.T419T|APC_uc010jbz.3_Silent_p.T136T|APC_uc010jca.3_5'Flank	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	419	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ACTGTGAAACCTGTTGGGAGT	0.463000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				48			13		0	0	0.001855	0	0
ZFP30	22835	broad.mit.edu	37	19	38126146	38126146	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:38126146A>T	uc002ogv.1	-	5	1812	c.1296T>A	c.(1294-1296)caT>caA	p.H432Q	ZFP30_uc002ogw.1_Missense_Mutation_p.H432Q|ZFP30_uc002ogx.1_Missense_Mutation_p.H432Q|ZFP30_uc010xtt.1_Missense_Mutation_p.H431Q	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA.	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCACCAAAATGAATACTCT	0.393000														43			8		0	0	0.003080	0	0
ASIC1	41	broad.mit.edu	37	12	50474934	50474934	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:50474934G>A	uc001rvv.3	+	9	1714	c.1485G>A	c.(1483-1485)acG>acA	p.T495T	ASIC1_uc001rvw.3_Silent_p.T449T|ASIC1_uc009zln.3_Silent_p.T240T|ASIC1_uc009zlo.3_Silent_p.T449T|ASIC1_uc021qxr.1_Silent_p.T483T	NM_020039	NP_064423	P78348	ACCN2_HUMAN	Homo sapiens amiloride-sensitive cation channel 2, neuronal (ACCN2), transcript variant 1, mRNA.	449					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GCATCCTCACGGTGCTGGAGC	0.731000														21			11		0	0	0.003163	0	0
DPP10	57628	broad.mit.edu	37	2	116503668	116503668	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:116503668C>T	uc002tle.3	+	9	892	c.871C>T	c.(871-873)Caa>Taa	p.Q291*	DPP10_uc002tla.2_Nonsense_Mutation_p.Q287*|DPP10_uc002tlb.2_Nonsense_Mutation_p.Q237*|DPP10_uc002tlc.2_Nonsense_Mutation_p.Q283*|DPP10_uc002tlf.2_Nonsense_Mutation_p.Q280*	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	287					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						AAAGGCAGGTCAAGTGAACCC	0.333000														17			4		0	0	0.000602	0	0
WRN	7486	broad.mit.edu	37	8	31024698	31024698	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:31024698C>T	uc003xio.4	+	33	4931	c.4143C>T	c.(4141-4143)atC>atT	p.I1381I	WRN_uc010lvk.3_Silent_p.I848I	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	1381					DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTGAAGAGATCTGTTCAAGTT	0.373000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					26			17		0	0	0.004007	0	0
YLPM1	56252	broad.mit.edu	37	14	75247117	75247117	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:75247117C>T	uc001xqj.4	+	2	1244	c.1120C>T	c.(1120-1122)Cca>Tca	p.P374S	YLPM1_uc001xql.4_5'Flank	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GTCTGAGGACCCAGAAGAAGA	0.418000														98			39		0	0	0.006230	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52147170	52147170	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:52147170C>T	uc002pxf.4	-	4	994	c.874G>A	c.(874-876)Gcc>Acc	p.A292T		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA.	292	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GGATTGAGGGCTTTTCCCTCC	0.607000														46			25		0	0	0.005443	0	0
ZNF154	7710	broad.mit.edu	37	19	58216322	58216322	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:58216322G>A	uc010euf.3	-	1	299	c.59C>T	c.(58-60)gCc>gTc	p.A20V	ZNF551_uc002qpx.3_Intron|ZNF154_uc002qpy.2_Non-coding_Transcript	NM_001085384	NP_001078853	Q13106	ZN154_HUMAN	Homo sapiens zinc finger protein 154 (ZNF154), mRNA.	20	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A20V(4)		endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		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;0.0257)		GAAGTGTACGGCCACATCTTC	0.512000														87			42		0	0	0.014410	0	0
LAMA5	3911	broad.mit.edu	37	20	60892830	60892830	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:60892830C>T	uc002ycq.3	-	53	7311	c.7244G>A	c.(7243-7245)aGg>aAg	p.R2415K	LAMA5_uc021wfw.1_Missense_Mutation_p.R2415K	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	2415	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCCTGCTTCCTTTGCTGAAG	0.572000														26			18		0	0	0.010504	0	0
NRG3	10718	broad.mit.edu	37	10	83635816	83635816	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:83635816C>T	uc021pvc.1	+	0	747	c.720C>T	c.(718-720)ccC>ccT	p.P240P	NRG3_uc010qlz.1_Silent_p.P240P|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Silent_p.P240P|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank|NRG3_uc021pvd.1_5'Flank|NRG3_uc021pve.1_5'Flank|NRG3_uc021pvf.1_5'Flank|NRG3_uc021pvg.1_5'Flank|NRG3_uc021pvh.1_5'Flank|NRG3_uc021pvi.1_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	240	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ATTCTACTCCCTCCTGGACCC	0.592000														5			9		0	0	0.013537	0	0
FLJ43860	389690	broad.mit.edu	37	8	142444090	142444090	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:142444090G>A	uc003ywi.2	-	30	4003	c.3922C>T	c.(3922-3924)Ctc>Ttc	p.L1308F	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	1309							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			ACCTTCTGGAGGAAGGAGAGC	0.627000														19			5		0	0	0.000602	0	0
PIGG	54872	broad.mit.edu	37	4	520928	520928	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:520928C>T	uc003gak.4	+	9	2306	c.2170C>T	c.(2170-2172)Ctg>Ttg	p.L724L	PIGG_uc003gaj.4_Silent_p.L716L|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Silent_p.L591L|PIGG_uc003gal.4_Silent_p.L635L	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	724					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CAAGGCTGCCCTGGCGCTGGG	0.647000														28			16		0	0	0.006122	0	0
OXGR1	27199	broad.mit.edu	37	13	97639844	97639844	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:97639844G>A	uc001vmx.1	-	3	414	c.170C>T	c.(169-171)aCt>aTt	p.T57I	OXGR1_uc010afr.1_Missense_Mutation_p.T57I|OXGR1_uc021rlr.1_Missense_Mutation_p.T57I	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) receptor 1 (OXGR1), mRNA.	57						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)			GAAAATGTAAGTGGATATCAC	0.458000														12			16		0	0	0.004007	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229718	8229718	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:8229718C>T	uc003gkv.4	+	11	2398	c.2297C>T	c.(2296-2298)tCc>tTc	p.S766F	SH3TC1_uc003gkw.4_Missense_Mutation_p.S690F|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	766							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCCCAAACTTCCCACTACCTC	0.692000														21			14		0	0	0.004007	0	0
OR5K1	26339	broad.mit.edu	37	3	98188480	98188480	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:98188480C>T	uc003dsm.3	+	0	60	c.60C>T	c.(58-60)caC>caT	p.H20H		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	20					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						TTACAGATCACCCTGAGCTGA	0.418000														38			58		0	0	0.014410	0	0
PTPN5	84867	broad.mit.edu	37	11	18754872	18754872	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:18754872G>A	uc001mpd.3	-	10	1559	c.1128C>T	c.(1126-1128)atC>atT	p.I376I	PTPN5_uc001mpb.3_Silent_p.I344I|PTPN5_uc001mpc.3_Silent_p.I376I|PTPN5_uc010rdj.2_Silent_p.I320I|PTPN5_uc001mpf.3_Silent_p.I352I|PTPN5_uc001mpe.3_Silent_p.I344I|PTPN5_uc010rdk.2_Silent_p.I321I	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	376	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CCGTGCTGACGATGGGTCCCT	0.617000														55			26		0	0	0.006320	0	0
RBP3	5949	broad.mit.edu	37	10	48390014	48390014	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:48390014G>A	uc001jez.3	-	0	978	c.864C>T	c.(862-864)ccC>ccT	p.P288P		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	288	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CTCCACCAAGGGGCCCCAGGG	0.692000														25			4		0	0	0.001168	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36279052	36279052	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:36279052C>T	uc002obs.2	+	20	3246	c.3102C>T	c.(3100-3102)agC>agT	p.S1034S	ARHGAP33_uc002obt.2_Silent_p.S1031S|ARHGAP33_uc002obv.1_Silent_p.S783S	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	1195					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						ACCCCCGAAGCCGTTCAGATC	0.687000														35			18		0	0	0.010504	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531273	140531273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140531273G>A	uc003lir.3	+	0	1435	c.1435G>A	c.(1435-1437)Ggc>Agc	p.G479S		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	479	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGAGACTCAGGCATCAACGC	0.652000														74			71		0	0	0.014410	0	0
EHMT1	79813	broad.mit.edu	37	9	140708908	140708908	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:140708908C>G	uc011mfc.2	+	21	3243	c.3206C>G	c.(3205-3207)tCc>tGc	p.S1069C	EHMT1_uc004coe.3_5'Flank	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	1069	Pre-SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GACGACTGCTCCTCCAGCAAC	0.632000														23			29		0	0	0.003755	0	0
LTF	4057	broad.mit.edu	37	3	46497331	46497331	+	Missense_Mutation	SNP	G	A	A	rs146006710		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:46497331G>A	uc003cpq.3	-	3	695	c.454C>T	c.(454-456)Cgt>Tgt	p.R152C	LTF_uc003fzr.3_Missense_Mutation_p.R108C|LTF_uc010hjh.3_Missense_Mutation_p.R152C|LTF_uc003cpr.3_Missense_Mutation_p.R139C	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	152	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	AAGAATGGACGAAGTGTCCCT	0.572000														22			25		0	0	0.002780	0	0
CELSR3	1951	broad.mit.edu	37	3	48677320	48677320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:48677320C>T	uc003cuf.1	-	35	9992	c.9992G>A	c.(9991-9993)gGc>gAc	p.G3331D	CELSR3_uc010hkf.3_Missense_Mutation_p.G523D|CELSR3_uc010hkg.3_Missense_Mutation_p.G1216D|CELSR3_uc003cul.3_Missense_Mutation_p.G3233D	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	3233					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATGGCTGGGGCCACTGACCGA	0.612000														91			45		0	0	0.014410	0	0
NNMT	4837	broad.mit.edu	37	11	114183152	114183152	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:114183152G>A	uc001por.1	+	4	1012	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	NNMT_uc001pos.1_Missense_Mutation_p.E250K	NM_006169	NP_006160	P40261	NNMT_HUMAN	Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA.	250					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	GGCCAACAACGAAGGACTTTT	0.512000														31			53		0	0	0.014410	0	0
ZNF418	147686	broad.mit.edu	37	19	58438246	58438246	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:58438246A>C	uc002qqs.1	-	3	1595	c.1303T>G	c.(1303-1305)Ttt>Gtt	p.F435V	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Missense_Mutation_p.F350V	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	Homo sapiens zinc finger protein 418 (ZNF418), mRNA.	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TTTCGACTAAAAGATTTCCCA	0.463000														113			60		0	0	0.014410	0	0
SPHK2	56848	broad.mit.edu	37	19	49129253	49129253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:49129253C>T	uc002pjw.3	+	0	1028	c.331C>T	c.(331-333)Ccg>Tcg	p.P111S	SPHK2_uc010xzt.2_Intron|SPHK2_uc002pjt.3_Intron|SPHK2_uc002pjr.3_Missense_Mutation_p.P49S|SPHK2_uc002pjs.3_Missense_Mutation_p.P49S|SPHK2_uc002pju.3_Missense_Mutation_p.P13S|SPHK2_uc002pjv.3_Missense_Mutation_p.P13S|SPHK2_uc010xzu.1_Missense_Mutation_p.P13S	NM_001204160	NP_001191089	Q9NRA0	SPHK2_HUMAN	Homo sapiens sphingosine kinase 2 (SPHK2), transcript variant 4, mRNA.	49	Required for binding to sulfatide and phosphoinositides and for membrane localization.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|Ras GTPase binding|diacylglycerol kinase activity|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TGCCAGCACCCCGCTCCTCCA	0.697000														25			19		0	0	0.006122	0	0
C16orf57	79650	broad.mit.edu	37	16	58036463	58036463	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:58036463C>T	uc002emz.3	+	1	290	c.179C>T	c.(178-180)cCt>cTt	p.P60L	ZNF319_uc002emx.1_5'Flank|C16orf57_uc002emy.3_Non-coding_Transcript|C16orf57_uc010via.2_Missense_Mutation_p.P60L|C16orf57_uc010vib.2_Missense_Mutation_p.P60L|C16orf57_uc010vic.1_Missense_Mutation_p.P9L	NM_024598	NP_078874	Q9BQ65	CP057_HUMAN	Homo sapiens chromosome 16 open reading frame 57 (C16orf57), transcript variant 1, mRNA.	60										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	8						GAGGAGGGGCCTGAAGATGAC	0.572000														67			23		0	0	0.014323	0	0
ITGAL	3683	broad.mit.edu	37	16	30518177	30518177	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:30518177G>A	uc002dyi.4	+	21	2684	c.2508_splice	c.e21+1	p.K836_splice	ITGAL_uc002dyj.4_Splice_Site_p.K752_splice|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	836					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	AGATGCTGAAGGTGGGTGAGA	0.612000														74			28		0	0	0.004656	0	0
PHKA1	5255	broad.mit.edu	37	X	71804146	71804146	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:71804146C>T	uc004eax.4	-	29	3551	c.3250G>A	c.(3250-3252)Gga>Aga	p.G1084R	PHKA1_uc004eay.4_Missense_Mutation_p.G1071R|PHKA1_uc011mqi.2_Missense_Mutation_p.G1012R|PHKA1_uc010nll.3_Missense_Mutation_p.G116R	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	1084	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					ACAGAAAGTCCGTGACACTGC	0.418000														8			25		0	0	0.005443	0	0
CACNA1A	773	broad.mit.edu	37	19	13418658	13418658	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:13418658C>T	uc002mwy.3	-	14	2160	c.1924G>A	c.(1924-1926)Gat>Aat	p.D642N	CACNA1A_uc010dzc.2_Missense_Mutation_p.D168N|CACNA1A_uc010xnd.2_Missense_Mutation_p.D642N|CACNA1A_uc021ups.1_Missense_Mutation_p.D642N|CACNA1A_uc010xne.2_Missense_Mutation_p.D642N|CACNA1A_uc010dze.2_Missense_Mutation_p.D642N|CACNA1A_uc021upt.1_Missense_Mutation_p.D643N	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	643					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GTCCCTTCATCGAAATTAAAC	0.547000														49			20		0	0	0.014323	0	0
GTPBP10	85865	broad.mit.edu	37	7	90003662	90003662	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:90003662C>T	uc003ukm.2	+	5	662	c.585C>T	c.(583-585)ttC>ttT	p.F195F	GTPBP10_uc003ukl.1_Non-coding_Transcript|GTPBP10_uc003uki.1_Silent_p.F212F|GTPBP10_uc003ukj.1_Silent_p.F186F|GTPBP10_uc003ukk.1_Non-coding_Transcript|GTPBP10_uc003ukn.2_Silent_p.F116F|GTPBP10_uc003uko.2_Silent_p.F5F	NM_033107	NP_149098	A4D1E9	GTPBA_HUMAN	Homo sapiens GTP-binding protein 10 (putative) (GTPBP10), transcript variant 2, mRNA.	195					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						ACAGTGATTTCAAACAGGTAG	0.318000														57			21		0	0	0.002780	0	0
REG3A	5068	broad.mit.edu	37	2	79384749	79384749	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:79384749G>A	uc002sod.2	-	3	757	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S	REG3A_uc002soe.2_Missense_Mutation_p.P137S|REG3A_uc002sof.2_Missense_Mutation_p.P137S	NM_138938	NP_620355	Q06141	REG3A_HUMAN	Homo sapiens regenerating islet-derived 3 alpha (REG3A), transcript variant 2, mRNA.	137	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.N136Y(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						ATGGTGGAGGGATTTCTCTCC	0.547000														47			23		0	0	0.004656	0	0
LRRC34	151827	broad.mit.edu	37	3	169526514	169526514	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:169526514G>A	uc003ffy.3	-	1	397	c.159C>T	c.(157-159)ctC>ctT	p.L53L	LRRC34_uc003ffx.3_Silent_p.L53L|LRRC34_uc003fga.4_5'UTR|LRRC34_uc021xhd.1_Silent_p.L53L	NM_001172779	NP_001166250	Q8IZ02	LRC34_HUMAN	Homo sapiens leucine rich repeat containing 34 (LRRC34), transcript variant 2, mRNA.	40										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			AATGTTTCTGGAGACCAGATT	0.294000														25			7		0	0	0.001984	0	0
CCDC141	285025	broad.mit.edu	37	2	179714883	179714883	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179714883C>T	uc002une.2	-	20	3368	c.3250G>A	c.(3250-3252)Gaa>Aaa	p.E1084K	CCDC141_uc002unf.1_Missense_Mutation_p.E563K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	509							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)			TGTCCTTCTTCCAAACCTGGG	0.383000														22			19		0	0	0.007413	0	0
ATRN	8455	broad.mit.edu	37	20	3578606	3578606	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:3578606C>T	uc002wim.2	+	21	3613	c.3523C>T	c.(3523-3525)Cgc>Tgc	p.R1175C	ATRN_uc002wil.2_Missense_Mutation_p.R1175C|ATRN_uc021vzz.1_Missense_Mutation_p.R1059C	NM_139321	NP_647537	O75882	ATRN_HUMAN	Homo sapiens attractin (ATRN), transcript variant 1, mRNA.	1175					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GGAAGATGATCGCTATTACAC	0.318000														123			52		0	0	0.014410	0	0
ORC1	4998	broad.mit.edu	37	1	52861988	52861988	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:52861988C>T	uc001ctt.3	-	4	682	c.451G>A	c.(451-453)Gag>Aag	p.E151K	ORC1_uc010oni.2_Missense_Mutation_p.E151K|ORC1_uc001ctu.3_Missense_Mutation_p.E151K	NM_004153	NP_004144	Q13415	ORC1_HUMAN	Homo sapiens origin recognition complex, subunit 1 (ORC1), transcript variant 1, mRNA.	151	BAH.				DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGTGTCTTCTCATTTTTCAGA	0.428000														81			40		0	0	0.009718	0	0
SEMA3D	223117	broad.mit.edu	37	7	84628811	84628811	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:84628811C>T	uc003uic.3	-	16	2319	c.2279G>A	c.(2278-2280)cGa>cAa	p.R760Q	SEMA3D_uc010led.3_Missense_Mutation_p.R760Q|SEMA3D_uc003uib.3_Missense_Mutation_p.R399Q	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	760	Arg/Lys-rich (basic).				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.R760Q(2)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCTTCGATTTCGTTTCTTCTT	0.453000														38			15		0	0	0.003163	0	0
LYVE1	10894	broad.mit.edu	37	11	10585563	10585563	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:10585563C>T	uc001miv.2	-	2	607	c.321G>A	c.(319-321)ggG>ggA	p.G107G	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|LYVE1_uc010rca.1_Intron	NM_006691	NP_006682	Q9Y5Y7	LYVE1_HUMAN	Homo sapiens lymphatic vessel endothelial hyaluronan receptor 1 (LYVE1), mRNA.	107	Link.				anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		CCCCATTTTTCCCACACTTGG	0.463000														27			29		0	0	0.007291	0	0
SLC6A18	348932	broad.mit.edu	37	5	1232870	1232870	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:1232870G>A	uc003jby.2	+	2	429	c.306G>A	c.(304-306)ctG>ctA	p.L102L		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	102					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCACAGGGCTGGGCTGTGTCA	0.562000														42			24		0	0	0.004656	0	0
HECW1	23072	broad.mit.edu	37	7	43508616	43508616	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:43508616G>A	uc003tid.1	+	15	3616	c.3011G>A	c.(3010-3012)cGg>cAg	p.R1004Q	HECW1_uc011kbi.1_Missense_Mutation_p.R970Q	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1004					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						CAGCACAACCGGGACTTGGTG	0.537000														54			42		0	0	0.009718	0	0
ENTPD1	953	broad.mit.edu	37	10	97599452	97599452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:97599452G>A	uc010qoj.2	+	2	248	c.185G>A	c.(184-186)gGg>gAg	p.G62E	ENTPD1_uc001kle.1_Missense_Mutation_p.G57E|ENTPD1_uc001kli.4_Missense_Mutation_p.G57E|LOC728558_uc001klg.2_Intron|ENTPD1_uc010qok.2_5'UTR|ENTPD1_uc010qol.2_5'UTR|ENTPD1_uc001klh.4_Missense_Mutation_p.G50E|ENTPD1_uc010qom.2_Missense_Mutation_p.G50E|ENTPD1_uc010qon.2_5'UTR|ENTPD1_uc009xva.3_Intron	NM_001164178	NP_001157655	P49961	ENTP1_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), transcript variant 3, mRNA.	50					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)		TTTCAGTATGGGATTGTGCTG	0.408000														89			57		0	0	0.014410	0	0
SACS	26278	broad.mit.edu	37	13	23911201	23911201	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:23911201C>T	uc001uon.2	-	9	7403	c.6814G>A	c.(6814-6816)Ggt>Agt	p.G2272S	SACS_uc001uoo.2_Missense_Mutation_p.G2125S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2272					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GACACTGAACCACAACCTCTA	0.353000														37			18		0	0	0.007413	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158580	26158580	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:26158580G>A	uc003ngr.3	+	0	232	c.183G>A	c.(181-183)ggG>ggA	p.G61G	HIST1H2BD_uc003ngs.3_Silent_p.G61G	NM_021063	NP_619790	P58876	H2B1D_HUMAN	Homo sapiens histone cluster 1, H2bd (HIST1H2BD), transcript variant 1, mRNA.	61					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						AGGCAATGGGGATCATGAATT	0.567000														123			80		0	0	0.014410	0	0
AKAP9	10142	broad.mit.edu	37	7	91708885	91708885	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:91708885C>T	uc003ulg.3	+	30	7663	c.7438C>T	c.(7438-7440)Cag>Tag	p.Q2480*	AKAP9_uc003ulf.3_Nonsense_Mutation_p.Q2472*|AKAP9_uc003uli.3_Nonsense_Mutation_p.Q2103*|AKAP9_uc003ulj.3_Nonsense_Mutation_p.Q250*	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	2492	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCTAGAAAATCAGACATACTT	0.373000			T	BRAF	papillary thyroid									39			19		0	0	0.006122	0	0
ZNF609	23060	broad.mit.edu	37	15	64967617	64967617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:64967617G>A	uc002ann.3	+	3	2564	c.2564G>A	c.(2563-2565)gGg>gAg	p.G855E		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	855						nucleus	zinc ion binding	p.D854Y(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGGAGGATGGGGAGGGCAAG	0.512000														53			39		0	0	0.006230	0	0
DNAH7	56171	broad.mit.edu	37	2	196749452	196749452	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:196749452G>A	uc002utj.4	-	34	5721	c.5620C>T	c.(5620-5622)Cga>Tga	p.R1874*		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1874					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						ATTAGTTCTCGAAGAATCTTA	0.383000														44			11		0	0	0.008291	0	0
C6	729	broad.mit.edu	37	5	41155184	41155184	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:41155184A>C	uc003jmk.2	-	13	2201	c.1991T>G	c.(1990-1992)gTt>gGt	p.V664G	C6_uc003jml.1_Missense_Mutation_p.V664G	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	664	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)				ATCTTCTCCAACCAAGTATAG	0.383000														41			37		0	0	0.006999	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7521226	7521226	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:7521226C>T	uc002mgi.3	+	7	1807	c.1554C>T	c.(1552-1554)atC>atT	p.I518I	ARHGEF18_uc010xjm.1_Silent_p.I360I|ARHGEF18_uc002mgh.3_Silent_p.I360I|ARHGEF18_uc002mgj.1_Silent_p.I161I	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	518	PH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	p.E518K(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				TCCTGGCTATCCTGCTGACCG	0.512000														326			185		0	0	0.014410	0	0
OR5P2	120065	broad.mit.edu	37	11	7817686	7817686	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:7817686C>T	uc001mfp.1	-	0	804	c.804G>A	c.(802-804)aaG>aaA	p.K268K		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGACACCACCTTGTTCTGGT	0.488000														59			22		0	0	0.010504	0	0
TCRB	0	broad.mit.edu	37	7	142099523	142099523	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:142099523G>A	uc003vyz.1	-	1	279	c.279C>T	c.(277-279)gtC>gtT	p.V93V	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_Non-coding_Transcript|TCRB_uc022ane.1_Silent_p.V93V					SubName: Full=Uncharacterized protein;																		TCAGAGTGGAGACGGATCCCT	0.547000														42			21		0	0	0.010504	0	0
LRP2	4036	broad.mit.edu	37	2	170063063	170063063	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:170063063G>A	uc002ues.3	-	38	7380	c.7167C>T	c.(7165-7167)ttC>ttT	p.F2389F		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2389					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)	CAAAGATGAGGAAATTTTCTG	0.438000														28			28		0	0	0.005443	0	0
HIP1	3092	broad.mit.edu	37	7	75203179	75203179	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:75203179G>A	uc003uds.2	-	7	677	c.632C>T	c.(631-633)tCt>tTt	p.S211F	HIP1_uc011kfz.2_Missense_Mutation_p.S211F	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	211					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CACGGACACAGAGCGGGACAT	0.562000			T	PDGFRB	CMML									43			20		0	0	0.010504	0	0
SMA	0	broad.mit.edu	37	5	68902955	68902955	+	RNA	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:68902955G>A	uc010ixi.1	+	0		c.30G>A								Homo sapiens cDNA, FLJ18088.																		CTAAAGGACGGACAGAGCATT	0.393000														137			32		0	0	0.014410	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473843	53473843	+	RNA	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:53473843C>T	uc002qan.4	-	3		c.658G>A								Homo sapiens zinc finger protein 702, pseudogene (ZNF702P), non-coding RNA.																		AGGTTTGTTTCCAGCATGCCT	0.383000														66			42		0	0	0.014410	0	0
NPAS2	4862	broad.mit.edu	37	2	101609814	101609814	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:101609814C>T	uc010yvt.1	+	19	2314	c.2312C>T	c.(2311-2313)gCc>gTc	p.A771V	NPAS2_uc002tap.1_Missense_Mutation_p.A706V|NPAS2_uc010fit.1_Silent_p.R123R	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.	706					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AACAGGTACGCCCAGAGCCAG	0.537000														29			13		0	0	0.002450	0	0
TDRD7	23424	broad.mit.edu	37	9	100245160	100245160	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:100245160C>T	uc004axj.3	+	14	2667	c.2442C>T	c.(2440-2442)atC>atT	p.I814I	TDRD7_uc011lux.2_Silent_p.I740I|TDRD7_uc010msp.1_Silent_p.I66I|TDRD7_uc011luy.2_Silent_p.I134I	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	814					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				CCAGAGGGATCGCACATGTTT	0.368000														21			23		0	0	0.005443	0	0
ITPR2	3709	broad.mit.edu	37	12	26749938	26749938	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:26749938G>A	uc001rhg.3	-	30	4549	c.4132C>T	c.(4132-4134)Ctg>Ttg	p.L1378L		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1378					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AACTCCACCAGGGTGATGTGG	0.488000														74			38		0	0	0.004878	0	0
SLC25A3	5250	broad.mit.edu	37	12	98987795	98987795	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:98987795C>T	uc001tfo.3	+	1	159	c.39C>T	c.(37-39)ccC>ccT	p.P13P	SLC25A3_uc001tfm.3_Silent_p.P13P|SLC25A3_uc001tfn.3_Silent_p.P13P|SLC25A3_uc001tfp.3_Silent_p.P13P|SLC25A3_uc001tfq.3_5'UTR|SLC25A3_uc001tfr.3_Silent_p.P13P|SLC25A3_uc001tfs.3_5'UTR	NM_005888	NP_005879	Q00325	MPCP_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 (SLC25A3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	13					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GGGCGAACCCCTTCAACACGC	0.682000														27			11		0	0	0.013537	0	0
MUC16	94025	broad.mit.edu	37	19	9073701	9073701	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9073701G>A	uc002mkp.3	-	2	13949	c.13745C>T	c.(13744-13746)tCa>tTa	p.S4582L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4584	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S4582L(3)|p.S4582*(3)|p.S215*(1)|p.S215L(1)		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						ACCAGGTATTGATATAGAAGC	0.517000														44			19		0	0	0.012319	0	0
SULT1E1	6783	broad.mit.edu	37	4	70723286	70723286	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:70723286T>A	uc003heo.3	-	1	190	c.77A>T	c.(76-78)tAt>tTt	p.Y26F	SULT1E1_uc010ihv.1_Missense_Mutation_p.Y26F	NM_005420	NP_005411	P49888	ST1E1_HUMAN	Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA.	26					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						ATTATCCCAATATTTGACAAA	0.353000														42			39		0	0	0.006230	0	0
ASS1	445	broad.mit.edu	37	9	133333934	133333934	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:133333934G>A	uc010mza.3	+	4	1057	c.549G>A	c.(547-549)caG>caA	p.Q183Q	ASS1_uc004bzm.3_Silent_p.Q107Q|ASS1_uc004bzn.3_Silent_p.Q107Q	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	107					arginine biosynthetic process|urea cycle	cytosol	ATP binding|argininosuccinate synthase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	AAATCGCCCAGCGGGAGGGGG	0.667000														13			11		0	0	0.013537	0	0
COL3A1	1281	broad.mit.edu	37	2	189869027	189869027	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:189869027G>A	uc002uqj.1	+	39	2985	c.2868G>A	c.(2866-2868)cgG>cgA	p.R956R		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	956	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTGGAGCACGGGGTCTTGCAG	0.507000														15			12		0	0	0.001855	0	0
GRM6	2916	broad.mit.edu	37	5	178413621	178413621	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:178413621C>T	uc003mjr.3	-	7	1813	c.1634G>A	c.(1633-1635)gGg>gAg	p.G545E	GRM6_uc003mjq.3_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.G128E|GRM6_uc003mjs.1_Missense_Mutation_p.G165E	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	545					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)		GAAGCGGTACCCGTCACAGGC	0.687000														36			6		0	0	0.001168	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4054681	4054681	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:4054681G>A	uc002lzh.3	-	1	625	c.550C>T	c.(550-552)Ccg>Tcg	p.P184S	ZBTB7A_uc002lzi.3_Missense_Mutation_p.P184S	NM_015898	NP_056982	O95365	ZBT7A_HUMAN	Homo sapiens zinc finger and BTB domain containing 7A (ZBTB7A), mRNA.	184	Ala-rich.				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGACCACGGGAAGCTGGCA	0.706000														5			5		0	0	0.000602	0	0
VPS13A	23230	broad.mit.edu	37	9	79865028	79865028	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:79865028C>T	uc004akr.3	+	20	2313	c.2053C>T	c.(2053-2055)Cgt>Tgt	p.R685C	VPS13A_uc004akp.4_Missense_Mutation_p.R685C|VPS13A_uc004akq.4_Missense_Mutation_p.R685C|VPS13A_uc004aks.3_Missense_Mutation_p.R685C	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	685					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAGTAAAAGTCGTTCTGAATT	0.294000														14			20		0	0	0.010504	0	0
OR4N2	390429	broad.mit.edu	37	14	20296296	20296296	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:20296296C>T	uc010tkv.2	+	0	689	c.689C>T	c.(688-690)tCt>tTt	p.S230F		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S229S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGGTCTTCTTCTGAGGCAAAA	0.493000														58			30		0	0	0.008361	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508087	37508087	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:37508087C>T	uc021ppc.1	+	33	3378	c.3279C>T	c.(3277-3279)acC>acT	p.T1093T	ANKRD30A_uc001iza.1_Silent_p.T1093T	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1149						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						TTCAGATGACCCTAAAACTGA	0.348000														124			34		0	0	0.007835	0	0
RNASEL	6041	broad.mit.edu	37	1	182550420	182550420	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:182550420G>A	uc009wxz.2	-	4	2102	c.1845C>T	c.(1843-1845)ctC>ctT	p.L615L	RNASEL_uc001gpk.3_Silent_p.L615L	NM_021133	NP_066956	Q05823	RN5A_HUMAN	Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA.	615	KEN.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GCAGTAGTCTGAGGATCTCAC	0.423000														96			57		0	0	0.014410	0	0
PDP2	57546	broad.mit.edu	37	16	66919225	66919225	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:66919225G>A	uc021tjw.1	+	0	1038	c.1038G>A	c.(1036-1038)agG>agA	p.R346R	PDP2_uc002eqk.2_Silent_p.R346R	NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 2 (PDP2), mRNA.	346					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		TCCCCTGCAGGGCCTTTGGGG	0.572000														26			27		0	0	0.005443	0	0
SYNPO	11346	broad.mit.edu	37	5	150027812	150027812	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:150027812C>T	uc003lsn.3	+	2	1081	c.707C>T	c.(706-708)cCc>cTc	p.P236L	SYNPO_uc021yfu.1_Missense_Mutation_p.P236L|SYNPO_uc003lso.4_5'UTR|SYNPO_uc003lsp.3_5'UTR|SYNPO_uc021yfv.1_5'Flank	NM_001166208	NP_001159681	Q8N3V7	SYNPO_HUMAN	Homo sapiens synaptopodin (SYNPO), transcript variant 3, mRNA.	236					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)			CCCCAGAGCCCCGACAGAGGG	0.672000														17			9		0	0	0.004482	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102483792	102483792	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:102483792G>T	uc001yks.2	+	39	8292	c.8128G>T	c.(8128-8130)Ggg>Tgg	p.G2710W	DYNC1H1_uc001ykt.1_Missense_Mutation_p.G201W	NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	2710	AAA 3 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCAGTTTGTTGGGGCTTGTAA	0.522000														54			32		2.08457e-15	2.32114e-15	0.010818	1	0
ATP2B1	490	broad.mit.edu	37	12	89992980	89992980	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:89992980C>T	uc001tbh.3	-	18	3446	c.3265G>A	c.(3265-3267)Gat>Aat	p.D1089N	ATP2B1_uc001tbg.3_Missense_Mutation_p.D1089N|ATP2B1_uc009zsr.3_Non-coding_Transcript|ATP2B1_uc001tbf.3_Missense_Mutation_p.D723N	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	1089					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TCTTCAACATCCTCTGCTAAT	0.438000														54			26		0	0	0.003954	0	0
DICER1	23405	broad.mit.edu	37	14	95596409	95596409	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:95596409G>A	uc001ydw.2	-	5	771	c.559C>T	c.(559-561)Cga>Tga	p.R187*	DICER1_uc021sbc.1_Nonsense_Mutation_p.R187*|DICER1_uc001ydv.2_Nonsense_Mutation_p.R177*|DICER1_uc001ydx.2_Nonsense_Mutation_p.R187*	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	187	Helicase ATP-binding.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ATAATTTCTCGATAGGGGTGG	0.328000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					25			8		0	0	0.006214	0	0
FAM170A	340069	broad.mit.edu	37	5	118969733	118969733	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:118969733C>T	uc003ksm.2	+	2	500	c.290C>T	c.(289-291)cCc>cTc	p.P97L	FAM170A_uc003ksl.2_Missense_Mutation_p.P97L|FAM170A_uc003ksn.3_Missense_Mutation_p.P97L|FAM170A_uc003kso.3_Missense_Mutation_p.P50L	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	97						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						GAGACTCCTCCCCGCTCACAA	0.483000														26			26		0	0	0.004656	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506099	178506099	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:178506099G>A	uc003mju.3	+	4	781	c.666G>A	c.(664-666)ggG>ggA	p.G222G		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Homo sapiens zinc finger protein 354C (ZNF354C), mRNA.	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|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;0.247)		ATGAATGTGGGAAGAGCTTCA	0.363000														30			12		0	0	0.010729	0	0
ZNF251	90987	broad.mit.edu	37	8	145948764	145948764	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:145948764G>T	uc003zdv.4	-	4	537	c.281C>A	c.(280-282)tCt>tAt	p.S94Y		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	Homo sapiens zinc finger protein 251 (ZNF251), mRNA.	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CCCAACCTCAGAATCTGTTAA	0.338000														13			4		0.00024832	0.000273114	0.009096	1	0
IFIT1	3434	broad.mit.edu	37	10	91162436	91162436	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:91162436G>A	uc001kgi.3	+	1	552	c.404G>A	c.(403-405)aGa>aAa	p.R135K	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|IFIT1_uc009xtt.3_Missense_Mutation_p.R135K|IFIT1_uc001kgj.3_Missense_Mutation_p.R104K	NM_001548	NP_001539	P09914	IFIT1_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 1 (IFIT1), transcript variant 2, mRNA.	135					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						TTCCGCTATAGAATGGAGTGT	0.483000														50			11		0	0	0.010729	0	0
abParts	0	broad.mit.edu	37	2	90260137	90260137	+	RNA	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:90260137C>T	uc010yts.2	+	40		c.5405C>T								Parts of antibodies, mostly variable regions.																		AAAGTGGGGTCCCATCAAGGT	0.468000														96			24		0	0	0.003954	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144917869	144917869	+	Silent	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:144917869A>G	uc021ouh.1	-	10	1719	c.1417T>C	c.(1417-1419)Ttg>Ctg	p.L473L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.L473L|PDE4DIP_uc001elx.4_Silent_p.L539L|PDE4DIP_uc001emd.2_Silent_p.L473L|PDE4DIP_uc001emc.2_Silent_p.L473L|PDE4DIP_uc001emb.1_Silent_p.L636L|PDE4DIP_uc001eme.1_Silent_p.L2L	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	473					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTCTCAAGCAACATTTCATTT	0.378000			T	PDGFRB	MPD									380			74		0	0	0.014410	0	0
PKD1L1	168507	broad.mit.edu	37	7	47880064	47880064	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:47880064G>A	uc003tny.2	-	34	5581	c.5547C>T	c.(5545-5547)atC>atT	p.I1849I		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1849	PLAT.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AATACCTCAGGATAAAGGTGT	0.403000														47			13		0	0	0.013537	0	0
MRPS31	10240	broad.mit.edu	37	13	41345346	41345346	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:41345346C>T	uc001uxm.4	-	1	1	c.-74_splice	c.e1-1			NM_005830	NP_005821	Q92665	RT31_HUMAN	Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.							mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		CCCGCCCTCTCTTCCGCTTCC	0.637000														5			11		0	0	0.008291	0	0
FAM83H	286077	broad.mit.edu	37	8	144812352	144812352	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:144812352G>A	uc003yzk.3	-	1	470	c.401C>T	c.(400-402)cCc>cTc	p.P134L	FAM83H_uc022bch.1_Missense_Mutation_p.P134L	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	134					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTTGATACTGGGGCTGTCGGG	0.667000														14			12		0	0	0.013537	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204236603	204236603	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:204236603C>T	uc001hau.3	-	5	597	c.280_splice	c.e5+1	p.D94_splice		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	94	PH.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CCAAGCTCACCTTTATAGTAG	0.577000														40			21		0	0	0.012319	0	0
NSD1	64324	broad.mit.edu	37	5	176696747	176696747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:176696747G>A	uc003mfr.4	+	15	5586	c.5448G>A	c.(5446-5448)atG>atA	p.M1816I	NSD1_uc003mft.4_Missense_Mutation_p.M1547I|NSD1_uc003mfs.1_Missense_Mutation_p.M1713I|NSD1_uc011dfx.2_Missense_Mutation_p.M1464I	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	1816	PWWP 2.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCCCTTACATGGAGGGTGACG	0.443000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				71			13		0	0	0.002450	0	0
FBXL18	80028	broad.mit.edu	37	7	5540961	5540961	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:5540961G>A	uc003soo.2	-	2	1033	c.939C>T	c.(937-939)ttC>ttT	p.F313F	FBXL18_uc003son.4_Silent_p.F313F	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	313									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		ACGGGTTGTTGAATTTCATGT	0.597000														30			14		0	0	0.001855	0	0
ZBTB48	3104	broad.mit.edu	37	1	6649218	6649219	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:6649218_6649219CC>TT	uc009vmc.2	+	10	2136_2137	c.2013_2014CC>TT	c.(2011-2016)gtcctg>gtTTtg	p.671_672VL>VL	ZBTB48_uc001anx.3_Silent_p.671_672VL>VL|ZBTB48_uc009vmd.2_Silent_p.671_672VL>VL|ZBTB48_uc001any.2_Silent_p.309_310VL>VL	NM_005341	NP_005332	P10074	ZBT48_HUMAN	Homo sapiens zinc finger and BTB domain containing 48 (ZBTB48), mRNA.	671						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		GCCCAGGTGTCCTGGAGCCCTC	0.653000														59			22		0	0	0.004672	0	0
RNASEL	6041	broad.mit.edu	37	1	182555078	182555078	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:182555078G>A	uc009wxz.2	-	1	1121	c.864C>T	c.(862-864)atC>atT	p.I288I	RNASEL_uc001gpk.3_Silent_p.I288I|RNASEL_uc009wya.1_Silent_p.I288I	NM_021133	NP_066956	Q05823	RN5A_HUMAN	Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA.	288					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GCAACTCGGCGATTTTCTTCA	0.473000														84			52		0	0	0.014410	0	0
GPRC6A	222545	broad.mit.edu	37	6	117128139	117128139	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:117128139C>T	uc003pxj.1	-	2	751	c.729G>A	c.(727-729)gaG>gaA	p.E243E	GPRC6A_uc003pxk.1_Silent_p.E243E|GPRC6A_uc003pxl.1_Silent_p.E243E	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	243					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CTGGAAGAACCTCTTTGAAGG	0.388000														67			33		0	0	0.013726	0	0
BC029534	0	broad.mit.edu	37	6	25261489	25261489	+	RNA	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:25261489G>A	uc003nex.4	-	0		c.147C>T								Homo sapiens cDNA clone IMAGE:5297808.																		AAGGCAAAAAGGAAAGGCACT	0.388000														5			6		0	0	0.001168	0	0
ZNF90	7643	broad.mit.edu	37	19	20215134	20215134	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:20215134G>A	uc002nor.2	+	1	229	c.90G>A	c.(88-90)agG>agA	p.R30R	ZNF90_uc021url.1_Intron	NM_007138	NP_009069	Q03938	ZNF90_HUMAN	Homo sapiens zinc finger protein 90 (ZNF90), mRNA.	30	KRAB.					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						ATTTATATAGGGATGTGATGT	0.393000														62			34		0	0	0.003271	0	0
PRPSAP2	5636	broad.mit.edu	37	17	18769194	18769194	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:18769194C>T	uc002gup.2	+	2	370	c.48C>T	c.(46-48)acC>acT	p.T16T	PRPSAP2_uc002guo.2_5'UTR|PRPSAP2_uc010vyi.2_Silent_p.T16T|PRPSAP2_uc010vyj.2_5'UTR|PRPSAP2_uc010vyk.2_Silent_p.T16T	NM_002767	NP_002758	O60256	KPRB_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 2 (PRPSAP2), transcript variant 1, mRNA.	16					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						TGAACATAACCAAAGGTGGTC	0.348000														5			14		0	0	0.001855	0	0
OR52B2	255725	broad.mit.edu	37	11	6190816	6190816	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:6190816G>A	uc010qzy.2	-	0	741	c.741C>T	c.(739-741)ctC>ctT	p.L247L		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L247L(3)|p.H246H(1)		NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATGACACAGAGGTGGGAGC	0.488000														43			30		0	0	0.008361	0	0
CYP4X1	260293	broad.mit.edu	37	1	47501543	47501543	+	Silent	SNP	G	A	A	rs114519235	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:47501543G>A	uc001cqt.3	+	4	808	c.558G>A	c.(556-558)tcG>tcA	p.S186S	CYP4X1_uc001cqr.3_Silent_p.S185S|CYP4X1_uc001cqs.3_Silent_p.S121S	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	186						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						ACATCAACTCGATGTCTCTGG	0.468000														33			18		0	0	0.008871	0	0
LTK	4058	broad.mit.edu	37	15	41797411	41797411	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:41797411G>A	uc001zoa.3	-	14	2098	c.1920C>T	c.(1918-1920)atC>atT	p.I640I	LTK_uc001zob.3_Silent_p.I579I|LTK_uc010ucx.1_Silent_p.I510I|LTK_uc010bcg.2_Silent_p.I338I	NM_002344	NP_002335	P29376	LTK_HUMAN	Homo sapiens leukocyte receptor tyrosine kinase (LTK), transcript variant 1, mRNA.	640	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CTAACCTGTGGATGAAGTGAT	0.577000										TSP Lung(18;0.14)				33			16		0	0	0.004990	0	0
PTPRK	5796	broad.mit.edu	37	6	128643369	128643369	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:128643369G>A	uc003qbk.3	-	2	677	c.310C>T	c.(310-312)Cac>Tac	p.H104Y	PTPRK_uc010kfc.3_Missense_Mutation_p.H104Y|PTPRK_uc003qbj.3_Missense_Mutation_p.H104Y|PTPRK_uc011ebu.2_Missense_Mutation_p.H104Y|PTPRK_uc003qbl.1_Intron|PTPRK_uc011ebv.1_Missense_Mutation_p.H104Y|PTPRK_uc003qbm.4_Missense_Mutation_p.H33Y	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	104	MAM.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TCAATGCAGTGAGTGTCGTTC	0.418000														98			58		0	0	0.014410	0	0
BPIFB4	149954	broad.mit.edu	37	20	31671589	31671589	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:31671589C>T	uc010zue.2	+	2	601	c.586C>T	c.(586-588)Ctc>Ttc	p.L196F		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	196	Gly-rich.					cytoplasm|extracellular region	lipid binding										CGGAGGTGGTCTCCTTGGTGA	0.662000														39			27		0	0	0.010818	0	0
MS4A14	84689	broad.mit.edu	37	11	60183946	60183946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:60183946C>T	uc001npj.3	+	4	2070	c.1505C>T	c.(1504-1506)tCt>tTt	p.S502F	MS4A14_uc001npi.3_Missense_Mutation_p.S390F|MS4A14_uc001npn.3_Missense_Mutation_p.S240F|MS4A14_uc001npk.3_Missense_Mutation_p.S485F|MS4A14_uc001npl.3_Missense_Mutation_p.S240F|MS4A14_uc001npm.3_Missense_Mutation_p.S240F	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	502	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AGGAGACATTCTTTAGACGTG	0.433000														67			18		0	0	0.004990	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218372	130218372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:130218372G>A	uc004evz.3	+	4	1084	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	ARHGAP36_uc004ewa.3_Missense_Mutation_p.E235K|ARHGAP36_uc004ewb.3_Missense_Mutation_p.E216K|ARHGAP36_uc004ewc.3_Missense_Mutation_p.E111K	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	247	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CCAATTCATTGAAAAACATGG	0.478000														11			16		0	0	0.004007	0	0
NWD1	284434	broad.mit.edu	37	19	16910856	16910856	+	Missense_Mutation	SNP	G	A	A	rs141442968		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:16910856G>A	uc002neu.4	+	16	4041	c.3619G>A	c.(3619-3621)Gtg>Atg	p.V1207M	NWD1_uc002net.4_Missense_Mutation_p.V1072M|NWD1_uc002nev.4_Missense_Mutation_p.V1001M|NWD1_uc021uqg.1_Missense_Mutation_p.V1072M	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1207							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						TAGGTCCCGGGTGCCTGCACC	0.577000														31			20		0	0	0.008871	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718600	142718600	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:142718600A>T	uc022cfm.1	-	0	325	c.325T>A	c.(325-327)Tta>Ata	p.L109I	SLITRK4_uc022cfl.1_Missense_Mutation_p.L109I|SLITRK4_uc004fbx.3_Missense_Mutation_p.L109I|SLITRK4_uc004fby.3_Missense_Mutation_p.L109I	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	109						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AACTGCTTTAATGCACTGAGC	0.418000														11			46		0	0	0.014410	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65235725	65235725	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:65235725G>A	uc002aoa.3	+	10	1041	c.1012G>A	c.(1012-1014)Gac>Aac	p.D338N	ANKDD1A_uc002aoc.3_Non-coding_Transcript|ANKDD1A_uc010bha.3_Missense_Mutation_p.D247N	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	Homo sapiens ankyrin repeat and death domain containing 1A (ANKDD1A), mRNA.	338					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CGCCTGGCAGGACATAGCAGA	0.552000														198			124		0	0	0.014410	0	0
ANKRD33	341405	broad.mit.edu	37	12	52283229	52283229	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:52283229G>A	uc001rzd.3	+	3	778	c.600G>A	c.(598-600)ggG>ggA	p.G200G	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Silent_p.G65G|ANKRD33_uc001rze.3_Silent_p.G65G|ANKRD33_uc001rzg.4_5'UTR|ANKRD33_uc001rzi.4_Silent_p.G65G	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	65										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		ACCAGCGGGGGCTCACGGCGT	0.652000														32			20		0	0	0.014323	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032513	21032513	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:21032513C>T	uc010sil.2	+	8	1344	c.1279C>T	c.(1279-1281)Cct>Tct	p.P427S	SLCO1B3_uc001rek.3_Missense_Mutation_p.P427S|SLCO1B3_uc001rel.3_Missense_Mutation_p.P427S|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	427					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TCTATATTTCCCTCTAATCTG	0.308000														46			23		0	0	0.005443	0	0
MCC	4163	broad.mit.edu	37	5	112403852	112403852	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:112403852G>A	uc003kql.4	-	12	2370	c.1954C>T	c.(1954-1956)Ctc>Ttc	p.L652F	MCC_uc003kqj.4_Missense_Mutation_p.L462F|MCC_uc003kqk.4_Non-coding_Transcript|MCC_uc011cwb.1_Missense_Mutation_p.L462F	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	462					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	p.T652M(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		AGCGCCAGGAGGAGTTCGTAG	0.617000														26			9		0	0	0.006214	0	0
ACSM2B	348158	broad.mit.edu	37	16	20563565	20563565	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:20563565C>T	uc002dhj.4	-	6	1005	c.795G>A	c.(793-795)tgG>tgA	p.W265*	ACSM2B_uc002dhk.4_Nonsense_Mutation_p.W265*|ACSM2B_uc010bwf.1_Nonsense_Mutation_p.W265*	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	265					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding	p.G264V(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGTTCAGTATCCAACCTGTGT	0.433000														126			34		0	0	0.013726	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47221138	47221138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:47221138C>T	uc003oyv.3	-	3	1796	c.1363G>A	c.(1363-1365)Gac>Aac	p.D455N		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	455	Death.				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CGCTCGTGGTCGGCTGTGTAC	0.597000														27			16		0	0	0.004990	0	0
ZNF577	84765	broad.mit.edu	37	19	52376906	52376906	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:52376906C>T	uc010yde.2	-	6	728	c.337G>A	c.(337-339)Gga>Aga	p.G113R	ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.4_Intron|ZNF577_uc002pxv.3_Missense_Mutation_p.G106R|ZNF577_uc002pxw.3_Intron	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	Homo sapiens zinc finger protein 577 (ZNF577), transcript variant 1, mRNA.	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CTCCCATATCCACCAAATGCA	0.383000														43			19		0	0	0.007413	0	0
STK31	56164	broad.mit.edu	37	7	23854802	23854802	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:23854802G>A	uc003sws.4	+	22	2867	c.2800G>A	c.(2800-2802)Gga>Aga	p.G934R	STK31_uc003swt.4_Missense_Mutation_p.G911R|STK31_uc011jze.2_Intron|STK31_uc010kuq.3_Missense_Mutation_p.G911R|STK31_uc003swv.1_Missense_Mutation_p.G100R	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	934	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						AAATAAAGATGGAATCCCCAA	0.323000														34			17		0	0	0.006122	0	0
IL4R	3566	broad.mit.edu	37	16	27375055	27375055	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:27375055C>T	uc002don.3	+	10	2624	c.2382C>T	c.(2380-2382)tcC>tcT	p.S794S	IL4R_uc002dop.4_Silent_p.S779S|IL4R_uc010bxy.3_Silent_p.S794S|IL4R_uc002doo.3_Silent_p.S634S	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	794	Poly-Ser.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CCTCATCATCCTTCCATCCTG	0.587000														70			18		0	0	0.006122	0	0
GBF1	8729	broad.mit.edu	37	10	104125239	104125239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:104125239C>T	uc001kux.2	+	17	2483	c.2189C>T	c.(2188-2190)cCa>cTa	p.P730L	GBF1_uc001kuy.2_Missense_Mutation_p.P730L|GBF1_uc001kuz.2_Missense_Mutation_p.P731L	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	730	SEC7.				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTCACCATCCCAATGGACAAC	0.488000														51			12		0	0	0.013537	0	0
MYT1L	23040	broad.mit.edu	37	2	1891327	1891327	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:1891327C>T	uc002qxe.3	-	16	3402	c.2575G>A	c.(2575-2577)Gag>Aag	p.E859K	MYT1L_uc002qxd.3_Missense_Mutation_p.E857K|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	859					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)		ATGGTCACCTCCCCGGGATAC	0.498000														88			21		0	0	0.010504	0	0
OR5D16	390144	broad.mit.edu	37	11	55606440	55606440	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:55606440G>A	uc010rio.2	+	0	213	c.213G>A	c.(211-213)gtG>gtA	p.V71V		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TCTCCTTTGTGGATTTCTGCT	0.413000														117			37		0	0	0.006230	0	0
TM7SF3	51768	broad.mit.edu	37	12	27152555	27152555	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:27152555G>A	uc010sjl.2	-	2	539	c.301C>T	c.(301-303)Ctt>Ttt	p.L101F		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	Homo sapiens transmembrane 7 superfamily member 3 (TM7SF3), mRNA.	101						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TCTGGTCTAAGGATGAAAACC	0.468000														44			27		0	0	0.004656	0	0
PCLO	27445	broad.mit.edu	37	7	82538248	82538248	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:82538248C>T	uc003uhx.2	-	7	13671	c.13382G>A	c.(13381-13383)cGa>cAa	p.R4461Q	PCLO_uc003uhv.2_Missense_Mutation_p.R4461Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4392	PDZ.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CGGCAGTTTTCGGTCCAGACC	0.418000														53			39		0	0	0.007835	0	0
STK33	65975	broad.mit.edu	37	11	8486369	8486369	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:8486369C>T	uc001mgi.1	-	3	1259	c.340_splice	c.e3-1	p.E114_splice	STK33_uc001mgj.1_Splice_Site_p.E114_splice|STK33_uc001mgk.1_Splice_Site_p.E114_splice|STK33_uc010rbn.1_Splice_Site_p.E73_splice|STK33_uc001mgl.3_Splice_Site|STK33_uc009yfp.3_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	114						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GTATAGATTTCCTGGAGAAAA	0.353000														35			30		0	0	0.009535	0	0
HNRPLL	92906	broad.mit.edu	37	2	38809232	38809232	+	Silent	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:38809232T>C	uc021vgc.1	-	4	1121	c.711A>G	c.(709-711)ctA>ctG	p.L237L	HNRPLL_uc002rqv.3_5'UTR|HNRPLL_uc021vgb.1_Silent_p.L232L	NM_138394	NP_612403	Q8WVV9	HNRLL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L-like (HNRPLL), transcript variant 1, mRNA.	237	RRM 2.				mRNA processing|positive regulation of RNA splicing	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(2)	10		all_hematologic(82;0.248)				ATTCAATTTTTAGTGTGCAAC	0.338000														38			7		0	0	0.004482	0	0
LAMA5	3911	broad.mit.edu	37	20	60907633	60907633	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:60907633G>A	uc002ycq.3	-	26	3490	c.3423C>T	c.(3421-3423)tcC>tcT	p.S1141S	LAMA5_uc021wfw.1_Silent_p.S1141S|MIR4758_uc021wfx.1_5'Flank	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1141	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGGGTGCAGGGAGAGCAGCC	0.711000														4			6		0	0	0.001984	0	0
COL13A1	1305	broad.mit.edu	37	10	71681679	71681679	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:71681679C>T	uc001jql.3	+	20	1634	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L	COL13A1_uc021prz.1_Silent_p.L344L|COL13A1_uc021psa.1_Silent_p.L309L|COL13A1_uc021psb.1_Silent_p.L315L|COL13A1_uc001jqk.2_Silent_p.L344L|COL13A1_uc021psc.1_Silent_p.L347L|COL13A1_uc021psd.1_Silent_p.L344L|COL13A1_uc010qjf.2_Silent_p.L309L|COL13A1_uc021pse.1_Silent_p.L315L|COL13A1_uc021psf.1_Silent_p.L366L|COL13A1_uc021psg.1_Silent_p.L344L|COL13A1_uc021psh.1_Silent_p.L347L	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	366	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	TTCCTGGCCTCCTGGGGCAGA	0.592000														5			3		0	0	0.009096	0	0
MXRA5	25878	broad.mit.edu	37	X	3227926	3227926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:3227926G>A	uc004crg.4	-	6	8475	c.8318C>T	c.(8317-8319)tCg>tTg	p.S2773L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2773	Ig-like C2-type 12.					extracellular region		p.S2773S(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTCAGATGCGACTTATCCGG	0.562000														13			23		0	0	0.006320	0	0
FUT9	10690	broad.mit.edu	37	6	96651698	96651698	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:96651698G>A	uc003pop.4	+	2	1008	c.667G>A	c.(667-669)Gga>Aga	p.G223R	FUT9_uc021zcw.1_Missense_Mutation_p.G223R	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	223					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GCAAGCATTTGGAGAATATGT	0.368000														26			12		0	0	0.013537	0	0
C8B	732	broad.mit.edu	37	1	57415271	57415271	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:57415271C>T	uc001cyp.3	-	5	888	c.821G>A	c.(820-822)cGa>cAa	p.R274Q	C8B_uc010oon.2_Missense_Mutation_p.R212Q|C8B_uc010ooo.2_Missense_Mutation_p.R222Q	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	274	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GTGTTTGCCTCGATCACTTTG	0.368000														47			16		0	0	0.004990	0	0
DNAJB7	150353	broad.mit.edu	37	22	41257082	41257082	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:41257082T>G	uc003azj.3	-	0	1049	c.917A>C	c.(916-918)aAa>aCa	p.K306T	XPNPEP3_uc011aox.2_Intron|XPNPEP3_uc003azh.3_Intron|XPNPEP3_uc003azi.3_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azf.2_Intron|XPNPEP3_uc003azg.2_Intron|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 7 (DNAJB7), mRNA.	306					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						ACAATTCCTTTTGGTAGACTT	0.343000														52			29		0	0	0.005443	0	0
CYP2A13	1553	broad.mit.edu	37	19	41596460	41596460	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:41596460C>T	uc002opt.3	+	3	654	c.645C>T	c.(643-645)tcC>tcT	p.S215S		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	215					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CGGCAACCTCCACGGGGCAGG	0.597000														56			32		0	0	0.009535	0	0
TECRL	253017	broad.mit.edu	37	4	65145804	65145804	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:65145804G>A	uc003hcv.3	-	11	1187	c.1078C>T	c.(1078-1080)Cca>Tca	p.P360S	TECRL_uc010ihi.3_Non-coding_Transcript	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	360					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	p.P360L(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AATATGAATGGAATCATTGCT	0.274000														21			13		0	0	0.001855	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562252	145562252	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:145562252C>T	uc001eob.1	+	9	2048	c.1940C>T	c.(1939-1941)tCc>tTc	p.S647F	ANKRD35_uc010oyx.1_Missense_Mutation_p.S490F	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	647										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAGCTACAGTCCCTGAGCCAG	0.592000														81			37		0	0	0.006230	0	0
DNAI2	64446	broad.mit.edu	37	17	72305507	72305507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:72305507G>A	uc002jkf.3	+	9	1437	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N	DNAI2_uc002jkg.3_Missense_Mutation_p.D443N|DNAI2_uc010dfp.3_Non-coding_Transcript|BX648926_uc002jkh.1_Silent_p.I76I|DNAI2_uc002jki.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	443					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CGAGCAGTGCGATCCCACCCT	0.612000									Kartagener syndrome					45			8		0	0	0.006214	0	0
OR1D4	653166	broad.mit.edu	37	17	3144402	3144402	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:3144402C>T	uc002fvf.3	+	0	433	c.433C>T	c.(433-435)Ctc>Ttc	p.L145F						Homo sapiens olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene) (OR1D4), non-coding RNA.																		TGTCTTGCTCCTCTCCTTGTG	0.577000														7			6		0	0	0.003080	0	0
PLXNA2	5362	broad.mit.edu	37	1	208216535	208216535	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:208216535G>A	uc001hgz.3	-	20	4646	c.3888C>T	c.(3886-3888)ctC>ctT	p.L1296L		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1296					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TATCCGTCTGGAGCTCAGCAA	0.552000														38			25		0	0	0.009535	0	0
CLVS1	157807	broad.mit.edu	37	8	62212398	62212398	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:62212398C>T	uc003xuh.3	+	1	336	c.12C>T	c.(10-12)gtC>gtT	p.V4V	CLVS1_uc003xug.2_Silent_p.V4V|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	4					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGGGACCAGTCTCTCTTCTTC	0.463000														28			13		0	0	0.001855	0	0
CDH12	1010	broad.mit.edu	37	5	21802333	21802333	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:21802333C>T	uc010iuc.2	-	6	1657	c.1199G>A	c.(1198-1200)gGg>gAg	p.G400E	CDH12_uc011cno.1_Missense_Mutation_p.G360E|CDH12_uc003jgk.2_Missense_Mutation_p.G400E	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	400	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AATGATGGTCCCTACCGGAGT	0.483000										HNSCC(59;0.17)				32			19		0	0	0.007413	0	0
CEACAM6	4680	broad.mit.edu	37	19	42265234	42265234	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:42265234G>A	uc002orm.2	+	2	651	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K		NM_002483	NP_002474	P40199	CEAM6_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA.	168	Ig-like C2-type 1.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CTTCACCTGTGAACCTGAGGT	0.567000														134			98		0	0	0.014410	0	0
PTPRU	10076	broad.mit.edu	37	1	29585184	29585184	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:29585184G>A	uc001bru.3	+	2	502	c.373G>A	c.(373-375)Ggg>Agg	p.G125R	PTPRU_uc009vtq.3_Missense_Mutation_p.G125R|PTPRU_uc009vtr.3_Missense_Mutation_p.G125R|PTPRU_uc001brw.3_Missense_Mutation_p.G125R	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	125	MAM.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GCGCGTTAATGGGGGCCCCCT	0.612000														112			36		0	0	0.003271	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024564	55024564	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:55024564C>T	uc002lgn.3	+	2	1080	c.723C>T	c.(721-723)gcC>gcT	p.A241A		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	241					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.G240E(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TTGACGGGGCCATTCTTTGGA	0.413000														42			20		0	0	0.008871	0	0
IMPG1	3617	broad.mit.edu	37	6	76660288	76660288	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:76660288G>A	uc003pik.1	-	12	1945	c.1815C>T	c.(1813-1815)ttC>ttT	p.F605F		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	605	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCAGCTGTGTGAATTGTTGCT	0.433000														26			11		0	0	0.013537	0	0
ARFGAP1	55738	broad.mit.edu	37	20	61917794	61917794	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:61917794G>A	uc002yem.3	+	12	1023	c.911_splice	c.e12+1	p.S304_splice	ARFGAP1_uc011aas.1_Splice_Site_p.S259_splice|ARFGAP1_uc011aat.1_Splice_Site_p.S191_splice|ARFGAP1_uc002yel.3_Splice_Site_p.S312_splice|ARFGAP1_uc002yen.3_Splice_Site_p.A384_splice|ARFGAP1_uc002yeo.1_Splice_Site|MIR4326_uc021wgb.1_5'Flank	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 1 (ARFGAP1), transcript variant 1, mRNA.	304					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	Golgi-associated vesicle membrane|cytosol	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					CCCTTGGACAGGTATGCTGTG	0.622000														21			11		0	0	0.013537	0	0
GABRB1	2560	broad.mit.edu	37	4	47427844	47427844	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:47427844G>A	uc003gxh.3	+	8	1608	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K	GABRB1_uc011bze.2_Missense_Mutation_p.E342K	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	412					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			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GAGCAGCCGCGAGGCCTACGG	0.662000														43			11		0	0	0.008291	0	0
OR2G3	81469	broad.mit.edu	37	1	247769031	247769031	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:247769031C>T	uc010pyz.2	+	0	144	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TAATCATCATCTCATATCTGG	0.463000														153			83		0	0	0.014410	0	0
CLCN1	1180	broad.mit.edu	37	7	143042825	143042825	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:143042825T>G	uc003wcr.1	+	16	2229	c.2142T>G	c.(2140-2142)gaT>gaG	p.D714E	CLCN1_uc011ktc.1_Missense_Mutation_p.D326E	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	714					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TGGATGAGGATGAGGACGAAG	0.667000											OREG0018402	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		10			4		0	0	0.000602	0	0
MYO3A	53904	broad.mit.edu	37	10	26500877	26500877	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:26500877C>T	uc001isn.2	+	34	5196	c.4836C>T	c.(4834-4836)ctC>ctT	p.L1612L	MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.R628C	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1612					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GCCGGCGCCTCGTCCAGCAGT	0.692000														17			7		0	0	0.003080	0	0
C21orf58	54058	broad.mit.edu	37	21	47742623	47742624	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr21:47742623_47742624GG>AA	uc002zjf.3	-	0	1162_1163	c.29_30CC>TT	c.(28-30)tcc>tTT	p.S10F	PCNT_uc002zji.4_5'Flank|PCNT_uc002zjj.3_5'Flank|C21orf58_uc002zja.3_5'Flank|C21orf58_uc011afx.2_Intron|C21orf58_uc010gqj.2_Non-coding_Transcript|C21orf58_uc002zjg.1_Non-coding_Transcript|C21orf58_uc021wka.1_Non-coding_Transcript	NM_058180	NP_478060	P58505	CU058_HUMAN	Homo sapiens chromosome 21 open reading frame 58 (C21orf58), mRNA.	10										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		GCTTCCTGAGggaggttgcagg	0.569000														4			12		0	0	0.004672	0	0
PDE6C	5146	broad.mit.edu	37	10	95372708	95372709	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:95372708_95372709CC>TT	uc001kiu.4	+	0	364_365	c.226_227CC>TT	c.(226-228)cca>TTa	p.P76L		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	76	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				GGGGGGCACCCCAGAGCAGGGG	0.663000														33			6		0	0	0.004672	0	0
STK31	56164	broad.mit.edu	37	7	23826183	23826183	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:23826183C>T	uc003sws.4	+	18	2398	c.2331C>T	c.(2329-2331)taC>taT	p.Y777Y	STK31_uc003swt.4_Silent_p.Y754Y|STK31_uc011jze.2_Silent_p.Y777Y|STK31_uc010kuq.3_Silent_p.Y754Y|STK31_uc003swv.1_5'Flank	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	777	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						CAGCCACCTACCATAGAGCTT	0.423000														35			15		0	0	0.003163	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561251	145561251	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:145561251G>A	uc001eob.1	+	9	1047	c.939G>A	c.(937-939)gaG>gaA	p.E313E	ANKRD35_uc010oyx.1_Silent_p.E156E	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	313										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCGGCTGGAGCAGGAGCTGG	0.557000														12			8		0	0	0.003080	0	0
P2RY2	5029	broad.mit.edu	37	11	72946081	72946081	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:72946081C>T	uc021qna.1	+	0	877	c.877C>T	c.(877-879)Ccg>Tcg	p.P293S	P2RY2_uc001otk.3_Missense_Mutation_p.P293S|P2RY2_uc001otj.3_Missense_Mutation_p.P293S|P2RY2_uc001otl.3_Missense_Mutation_p.P293S	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	293					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GGTTACCCGGCCGCTGGCCAG	0.627000														9			15		0	0	0.003163	0	0
NAA25	80018	broad.mit.edu	37	12	112506773	112506773	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:112506773G>A	uc001ttm.3	-	10	1118	c.1060C>T	c.(1060-1062)Cag>Tag	p.Q354*	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Nonsense_Mutation_p.Q326*|NAA25_uc009zwa.2_Nonsense_Mutation_p.Q354*	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	354						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TTAAAATACTGGAACATTAAT	0.343000														39			23		0	0	0.014323	0	0
CELSR3	1951	broad.mit.edu	37	3	48669454	48669454	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:48669454G>A	uc003cuf.1	-	41	10824	c.10824C>T	c.(10822-10824)ttC>ttT	p.F3608F	CELSR3_uc003cug.3_Silent_p.F182F|CELSR3_uc011bbp.2_Missense_Mutation_p.R169W|CELSR3_uc010hke.3_Silent_p.F54F|CELSR3_uc003cuk.3_Intron|CELSR3_uc003cuh.3_Silent_p.F203F|CELSR3_uc003cui.3_Silent_p.F203F|CELSR3_uc003cuj.3_Silent_p.F203F	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	0					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCACGAAGCCGAAGTGGATCA	0.612000														95			18		0	0	0.008871	0	0
SCML2	10389	broad.mit.edu	37	X	18259476	18259476	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:18259476G>A	uc004cyl.2	-	14	2155	c.1998C>T	c.(1996-1998)ttC>ttT	p.F666F	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_3'UTR|SCML2_uc011miz.1_3'UTR|SCML2_uc010nfc.2_3'UTR	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	666	SAM.				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.L665L(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TCTTGAGTAGGAACAGAGCCT	0.343000														14			54		0	0	0.014410	0	0
IPO5	3843	broad.mit.edu	37	13	98654969	98654969	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:98654969C>T	uc001vne.3	+	14	1499	c.1319C>T	c.(1318-1320)gCc>gTc	p.A440V	IPO5_uc001vnf.1_Missense_Mutation_p.A422V|IPO5_uc010tik.1_Missense_Mutation_p.A297V|IPO5_uc010til.1_Missense_Mutation_p.A362V|IPO5_uc001vng.1_Missense_Mutation_p.A43V	NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	422					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GCCTGTAATGCCGTGGGACAG	0.388000														53			34		0	0	0.006230	0	0
FRMPD2	143162	broad.mit.edu	37	10	49440233	49440233	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:49440233C>T	uc001jgi.3	-	9	1424	c.1093G>A	c.(1093-1095)Gga>Aga	p.G365R	FRMPD2_uc001jgh.3_Missense_Mutation_p.G334R|FRMPD2_uc001jgj.3_Missense_Mutation_p.G334R	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	365	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AAGACAGCTCCCACTGTTGAT	0.493000														38			33		0	0	0.003271	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139866626	139866626	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:139866626C>T	uc003lfs.2	+	13	2380	c.2226C>T	c.(2224-2226)gcC>gcT	p.A742A	ANKHD1-EIF4EBP3_uc003lfq.2_Silent_p.A761A|ANKHD1-EIF4EBP3_uc003lfr.3_Silent_p.A742A|ANKHD1-EIF4EBP3_uc003lft.1_Silent_p.A206A|ANKHD1-EIF4EBP3_uc003lfu.1_Silent_p.A222A|ANKHD1-EIF4EBP3_uc003lfv.1_Silent_p.A72A	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	742						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCTCCTGCCCTTTTAGGAG	0.393000														49			9		0	0	0.004482	0	0
MSRA	4482	broad.mit.edu	37	8	10159071	10159071	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:10159071G>T	uc003wsx.3	+	3	556	c.359G>T	c.(358-360)cGa>cTa	p.R120L	MSRA_uc011kwx.2_Missense_Mutation_p.R80L|MSRA_uc011kwy.1_Missense_Mutation_p.R77L|MSRA_uc003wsy.3_Missense_Mutation_p.R54L|MSRA_uc003wsz.3_Missense_Mutation_p.R77L	NM_012331	NP_001186658	Q9UJ68	MSRA_HUMAN	Homo sapiens methionine sulfoxide reductase A (MSRA), transcript variant 1, mRNA.	120					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	GAAGTCGTCCGAGTGGTGTAC	0.433000														67			23		2.98393e-07	3.29195e-07	0.002780	1	0
TFPI	7035	broad.mit.edu	37	2	188349701	188349701	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:188349701G>A	uc002upy.3	-	4	667	c.372C>T	c.(370-372)ttC>ttT	p.F124F	TFPI_uc002uqa.2_Silent_p.F124F|TFPI_uc002uqb.2_Silent_p.F124F	NM_006287	NP_006278	P10646	TFPI1_HUMAN	Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA.	124					blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	CCAAAAAGCAGAAATCTGGCT	0.289000														28			7		0	0	0.004482	0	0
POLQ	10721	broad.mit.edu	37	3	121178949	121178949	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:121178949T>G	uc003eee.4	-	24	7229	c.7100A>C	c.(7099-7101)aAg>aCg	p.K2367T	POLQ_uc003eed.3_Missense_Mutation_p.K1539T	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	2367					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTCAATCATCTTCCACTCTGC	0.428000								DNA polymerases (catalytic subunits)						45			38		0	0	0.009718	0	0
COL13A1	1305	broad.mit.edu	37	10	71682509	71682509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:71682509G>A	uc001jql.3	+	21	1692	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K	COL13A1_uc021prz.1_Missense_Mutation_p.E364K|COL13A1_uc021psa.1_Missense_Mutation_p.E329K|COL13A1_uc021psb.1_Missense_Mutation_p.E335K|COL13A1_uc001jqk.2_Missense_Mutation_p.E364K|COL13A1_uc021psc.1_Missense_Mutation_p.E367K|COL13A1_uc021psd.1_Missense_Mutation_p.E364K|COL13A1_uc010qjf.2_Missense_Mutation_p.E329K|COL13A1_uc021pse.1_Missense_Mutation_p.E335K|COL13A1_uc021psf.1_Missense_Mutation_p.E386K|COL13A1_uc021psg.1_Missense_Mutation_p.E364K|COL13A1_uc021psh.1_Missense_Mutation_p.E367K	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	386	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AGGCAGAGGGGAACCTGGCCC	0.612000														6			4		0	0	0.001168	0	0
ANK2	287	broad.mit.edu	37	4	114179525	114179525	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:114179525C>T	uc003ibe.4	+	12	1444	c.1344C>T	c.(1342-1344)ctC>ctT	p.L448L	ANK2_uc003ibd.4_Silent_p.L427L|ANK2_uc003ibf.4_Silent_p.L448L|ANK2_uc003ibc.2_Silent_p.L424L|ANK2_uc011cgb.1_Silent_p.L463L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	448					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACATTGTCCTCCTTCTGCTGC	0.517000														146			36		0	0	0.006999	0	0
SMARCA4	6597	broad.mit.edu	37	19	11100040	11100040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:11100040C>T	uc010dxp.3	+	7	1526	c.1166C>T	c.(1165-1167)cCc>cTc	p.P389L	SMARCA4_uc010dxo.3_Missense_Mutation_p.P389L|SMARCA4_uc002mqf.4_Missense_Mutation_p.P389L|SMARCA4_uc002mqg.1_Missense_Mutation_p.P389L|SMARCA4_uc010dxq.3_Missense_Mutation_p.P389L|SMARCA4_uc010dxr.3_Missense_Mutation_p.P389L|SMARCA4_uc002mqj.4_Missense_Mutation_p.P389L|SMARCA4_uc010dxs.3_Missense_Mutation_p.P389L|SMARCA4_uc002mqe.2_Missense_Mutation_p.P389L	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.	389					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)				GAAAACCTTCCCGGGTCCCTG	0.617000			"""F, N, Mis"""		NSCLC									84			46		0	0	0.011902	0	0
ADK	132	broad.mit.edu	37	10	75960589	75960590	+	Missense_Mutation	DNP	CT	TG	TG			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:75960589_75960590CT>TG	uc001jwi.3	+	1	227_228	c.133_134CT>TG	c.(133-135)ctt>TGt	p.L45C	ADK_uc010qlb.2_Missense_Mutation_p.L45C|ADK_uc001jwj.3_Missense_Mutation_p.L28C|ADK_uc010qlc.2_Missense_Mutation_p.L28C	NM_006721	NP_006712	P55263	ADK_HUMAN	Homo sapiens adenosine kinase (ADK), transcript variant 2, mRNA.	45					purine base metabolic process|purine ribonucleoside salvage	cytosol	ATP binding|adenosine kinase activity|metal ion binding|phosphotransferase activity, alcohol group as acceptor			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	CAAAGATTTCCTTGATAAGTAA	0.327000														24			6		0	0	0.004672	0	0
CDH20	28316	broad.mit.edu	37	18	59157870	59157870	+	Silent	SNP	T	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:59157870T>A	uc010dps.1	+	0	236	c.84T>A	c.(82-84)ctT>ctA	p.L28L	CDH20_uc002lif.2_Silent_p.L22L	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	28					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)				TGATGGACCTTACGACCACCG	0.527000														32			35		0	0	0.013726	0	0
INPP5D	3635	broad.mit.edu	37	2	234098535	234098535	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:234098535C>T	uc010zmo.2	+	20	2464	c.2311C>T	c.(2311-2313)Cag>Tag	p.Q771*	INPP5D_uc010zmp.2_Nonsense_Mutation_p.Q770*	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	800					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CCTGCTAGACCAGCACATCCT	0.572000														42			25		0	0	0.003954	0	0
POLL	27343	broad.mit.edu	37	10	103339296	103339296	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:103339296C>T	uc001ktg.1	-	7	2408	c.1642G>A	c.(1642-1644)Ggc>Agc	p.G548S	DPCD_uc010qpz.2_Intron|POLL_uc001ktd.1_Missense_Mutation_p.G221S|POLL_uc001kte.1_Missense_Mutation_p.G240S|POLL_uc001kth.1_Missense_Mutation_p.G273S|POLL_uc001ktj.2_Missense_Mutation_p.G548S|POLL_uc010qqb.2_Non-coding_Transcript|POLL_uc001ktf.3_Missense_Mutation_p.G456S|POLL_uc001kti.2_Missense_Mutation_p.G548S|POLL_uc001ktl.3_Missense_Mutation_p.G460S|POLL_uc001ktm.3_Missense_Mutation_p.G548S|POLL_uc010qqc.2_Missense_Mutation_p.G240S|POLL_uc010qqa.2_Missense_Mutation_p.G287S	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	Homo sapiens polymerase (DNA directed), lambda (POLL), transcript variant 2, mRNA.	548					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGCACTCGGCCAGGCCCCACC	0.627000								DNA polymerases (catalytic subunits)						42			16		0	0	0.003163	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79973189	79973189	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:79973189C>T	uc002kcy.3	+	12	1689	c.1592C>T	c.(1591-1593)cCc>cTc	p.P531L	ASPSCR1_uc002kcx.3_Intron|ASPSCR1_uc021ufj.1_Intron|ASPSCR1_uc002kda.3_Intron	NM_001251888	NP_001238817	Q9BZE9	ASPC1_HUMAN	Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.	534							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			AGTGGCGATCCCTCCCGAGTC	0.677000			T	TFE3	alveolar soft part sarcoma									30			12		0	0	0.013537	0	0
PKD2L1	9033	broad.mit.edu	37	10	102048186	102048186	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:102048186G>A	uc001kqx.1	-	15	2768	c.2385C>T	c.(2383-2385)tcC>tcT	p.S795S	BLOC1S2_uc001kqv.1_5'Flank|BLOC1S2_uc001kqw.1_5'Flank|PKD2L1_uc009xwm.1_Silent_p.S748S	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	795					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TCTCACCACGGGAGAGTCTCC	0.517000														73			51		0	0	0.014410	0	0
RABGEF1	27342	broad.mit.edu	37	7	66270291	66270292	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:66270291_66270292CC>TT	uc003tvf.3	+	11	1820_1821	c.604_605CC>TT	c.(604-606)cca>TTa	p.P202L	RABGEF1_uc003tvg.3_Missense_Mutation_p.P137L|RABGEF1_uc003tvh.3_Missense_Mutation_p.P329L|RABGEF1_uc010lag.3_Missense_Mutation_p.P329L|RABGEF1_uc011kee.2_Missense_Mutation_p.P343L|RABGEF1_uc003tvi.3_Missense_Mutation_p.P163L	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.	546	Interaction with ubiquitinated proteins.				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						GGGCAACCCCCCACGCCTTCAG	0.500000														53			30		0	0	0.004672	0	0
OR51E1	143503	broad.mit.edu	37	11	4674057	4674057	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:4674057C>T	uc021qcq.1	+	0	301	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L	OR51E1_uc001lzi.4_Silent_p.L101L	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGATGCTTGTCTGCTACAGAT	0.507000														38			22		0	0	0.012319	0	0
SLC6A5	9152	broad.mit.edu	37	11	20649547	20649547	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:20649547C>T	uc001mqd.3	+	8	1690	c.1417C>T	c.(1417-1419)Cag>Tag	p.Q473*	SLC6A5_uc009yic.3_Nonsense_Mutation_p.Q238*	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	473					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.Q473E(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TGCTGCCACTCAGATTTTCTT	0.493000														49			9		0	0	0.006214	0	0
MPP4	58538	broad.mit.edu	37	2	202545643	202545643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:202545643C>T	uc002uyk.4	-	9	1055	c.847G>A	c.(847-849)Gat>Aat	p.D283N	MPP4_uc010ftj.3_Missense_Mutation_p.D283N|MPP4_uc010zhq.2_Missense_Mutation_p.D283N|MPP4_uc010zht.2_Missense_Mutation_p.D256N|MPP4_uc010zhr.2_Missense_Mutation_p.D283N|MPP4_uc010zhs.2_Missense_Mutation_p.D239N|MPP4_uc002uyj.4_Missense_Mutation_p.D239N|MPP4_uc002uyl.4_Non-coding_Transcript|MPP4_uc010ftk.3_Missense_Mutation_p.D270N|MPP4_uc002uym.1_Missense_Mutation_p.D252N|MPP4_uc002uyn.3_Missense_Mutation_p.D239N	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	Homo sapiens membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) (MPP4), mRNA.	283	SH3.					cytoplasm	protein binding			kidney(1)|lung(11)	12						CAGAGGGCATCATTCTGGTCC	0.567000											OREG0015145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		16			5		0	0	0.000602	0	0
GK2	2712	broad.mit.edu	37	4	80328028	80328028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:80328028G>A	uc003hlu.3	-	0	1345	c.1327C>T	c.(1327-1329)Cat>Tat	p.H443Y		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	443					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						ACTGGAATATGAAGAATATCT	0.468000														55			41		0	0	0.007835	0	0
IGSF10	285313	broad.mit.edu	37	3	151155680	151155680	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:151155680G>A	uc011bod.2	-	5	6669	c.6669C>T	c.(6667-6669)acC>acT	p.T2223T	IGSF10_uc011bob.2_Silent_p.T250T|IGSF10_uc011boc.2_Silent_p.T202T	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2223	Ig-like C2-type 8.				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)			TGTACATTTTGGTGTCATCCC	0.418000														69			17		0	0	0.004007	0	0
NAV1	89796	broad.mit.edu	37	1	201777203	201777203	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:201777203G>A	uc021phi.1	+	17	4118	c.3771G>A	c.(3769-3771)caG>caA	p.Q1257Q	NAV1_uc001gwu.3_Silent_p.Q1254Q|NAV1_uc001gwx.3_Silent_p.Q863Q|MIR1231_uc021phj.1_5'Flank	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	1257					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCAAACTACAGCATGGTTCTA	0.537000														74			30		0	0	0.010818	0	0
PRSS55	203074	broad.mit.edu	37	8	10387074	10387074	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:10387074G>A	uc003wta.3	+	1	252	c.212G>A	c.(211-213)gGg>gAg	p.G71E	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Missense_Mutation_p.G71E|PRSS55_uc003wtb.3_Non-coding_Transcript	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	71	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						ATCACAGGGGGGATGGAGGCG	0.502000														149			107		0	0	0.014410	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561910	145561910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:145561910C>T	uc001eob.1	+	9	1706	c.1598C>T	c.(1597-1599)gCc>gTc	p.A533V	ANKRD35_uc010oyx.1_Missense_Mutation_p.A376V	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	533	Poly-Ala.									NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCAGCAGCTGCCTGGGAGAAG	0.632000														107			52		0	0	0.014410	0	0
MARCO	8685	broad.mit.edu	37	2	119739022	119739022	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:119739022G>A	uc002tln.1	+	8	936	c.804G>A	c.(802-804)ggG>ggA	p.G268G	MARCO_uc010yyf.1_Silent_p.G190G	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	268	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GAGATGCAGGGGTCATGGGGC	0.567000														27			6		0	0	0.001168	0	0
BARHL1	56751	broad.mit.edu	37	9	135458257	135458257	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:135458257G>A	uc004cbp.1	+	0	265	c.73G>A	c.(73-75)Ggg>Agg	p.G25R		NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN	Homo sapiens BarH-like homeobox 1 (BARHL1), mRNA.	25						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		CCTTCCCAAGGGGGACCCCTT	0.652000														28			28		0	0	0.007291	0	0
CSMD2	114784	broad.mit.edu	37	1	34174812	34174812	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:34174812G>A	uc001bxm.1	-	21	3630	c.3453C>T	c.(3451-3453)tcC>tcT	p.S1151S	CSMD2_uc001bxn.1_Silent_p.S1111S|CSMD2_uc001bxo.1_Silent_p.S24S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1111	CUB 7.					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)				GAAAGTTGGGGGACAGCAAAG	0.478000														29			21		0	0	0.010504	0	0
MYO3A	53904	broad.mit.edu	37	10	26241046	26241046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:26241046C>T	uc001isn.2	+	2	367	c.7C>T	c.(7-9)Cca>Tca	p.P3S	MYO3A_uc009xko.1_Missense_Mutation_p.P3S|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.P3S|MYO3A_uc001ism.2_Missense_Mutation_p.P3S	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	3					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGAGATGTTTCCATTAATTGG	0.353000														21			17		0	0	0.007413	0	0
PALLD	23022	broad.mit.edu	37	4	169815749	169815749	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:169815749G>A	uc011cjx.2	+	11	2331	c.2120G>A	c.(2119-2121)aGa>aAa	p.R707K	CBR4_uc011cjy.2_Non-coding_Transcript|PALLD_uc003iru.3_Missense_Mutation_p.R707K|PALLD_uc003irv.3_Missense_Mutation_p.R325K|PALLD_uc003irw.3_Missense_Mutation_p.R220K	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	931	Pro-rich.				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)		TACGAAGAAAGAATGGCTCGT	0.373000									Pancreatic Cancer, Familial Clustering of					13			8		0	0	0.001855	0	0
SLC5A8	160728	broad.mit.edu	37	12	101577958	101577958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:101577958C>T	uc001thz.4	-	7	1396	c.1006G>A	c.(1006-1008)Gga>Aga	p.G336R		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	336					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.P335T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCAGGAAGTCCTGGATAATCT	0.353000														30			19		0	0	0.012319	0	0
GPR116	221395	broad.mit.edu	37	6	46849835	46849835	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:46849835C>T	uc003oyo.3	-	6	911	c.622G>A	c.(622-624)Ggt>Agt	p.G208S	GPR116_uc003oyp.3_Missense_Mutation_p.G208S|GPR116_uc003oyq.3_Missense_Mutation_p.G208S|GPR116_uc010jzi.1_5'Flank|GPR116_uc003oyr.2_Missense_Mutation_p.G208S	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	208	SEA.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ATTCCGTAACCCTTCCGGAAC	0.368000														72			40		0	0	0.007835	0	0
FERD3L	222894	broad.mit.edu	37	7	19184784	19184784	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:19184784C>T	uc003suo.1	-	0	261	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	BC043576_uc003sun.1_Non-coding_Transcript	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	Homo sapiens Fer3-like (Drosophila) (FERD3L), mRNA.	68	Poly-Glu.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.C67F(1)|p.C67C(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						tggtccacttcgcactcctct	0.632000														21			20		0	0	0.014323	0	0
WASF3	10810	broad.mit.edu	37	13	27255355	27255355	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:27255355G>A	uc001uqv.3	+	7	1106	c.881G>A	c.(880-882)aGg>aAg	p.R294K	WASF3_uc001uqw.3_Missense_Mutation_p.R291K	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	294					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GCCTCGGCGAGGCACATGGCC	0.692000														49			31		0	0	0.003271	0	0
ZNF385D	79750	broad.mit.edu	37	3	21462748	21462748	+	Silent	SNP	G	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:21462748G>T	uc003cce.3	-	7	1554	c.1146C>A	c.(1144-1146)ccC>ccA	p.P382P		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	382						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CGGTCCGAATGGGTCCAGGAG	0.488000														27			12		3.27435e-08	3.61568e-08	0.002450	1	0
FAM83B	222584	broad.mit.edu	37	6	54805506	54805506	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:54805506G>A	uc003pck.3	+	4	1853	c.1737G>A	c.(1735-1737)gaG>gaA	p.E579E		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	579										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)					CACCTAAAGAGGTCCCAGACA	0.453000														38			21		0	0	0.014323	0	0
MAP3K8	1326	broad.mit.edu	37	10	30747036	30747036	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:30747036C>T	uc001ivi.2	+	6	1509	c.897C>T	c.(895-897)atC>atT	p.I299I	MAP3K8_uc009xlf.2_Silent_p.I299I|MAP3K8_uc001ivj.2_Silent_p.I299I	NM_005204	NP_005195	P41279	M3K8_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 8 (MAP3K8), transcript variant 1, mRNA.	299	Protein kinase.				T cell costimulation|cell cycle	cytosol	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CAGAGGTCATCCTGTGCAGGG	0.537000														35			32		0	0	0.006230	0	0
PIWIL1	9271	broad.mit.edu	37	12	130830393	130830393	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:130830393A>C	uc001uik.3	+	3	557	c.286A>C	c.(286-288)Aac>Cac	p.N96H	PIWIL1_uc001uij.2_Missense_Mutation_p.N96H	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	96					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding	p.Q95Q(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TACAAGGCAGAACCTAGACCA	0.393000														38			18		0	0	0.008871	0	0
CHCHD4	131474	broad.mit.edu	37	3	14154485	14154485	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:14154485C>A	uc003byj.4	-	2	526	c.331G>T	c.(331-333)Gat>Tat	p.D111Y	CHCHD4_uc003byi.4_Missense_Mutation_p.D124Y	NM_001098502	NP_001091972	Q8N4Q1	MIA40_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 4 (CHCHD4), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	111	Asp/Glu-rich (acidic).				protein transport|transmembrane transport	mitochondrial intermembrane space				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						tcttcctcatcctcatcctct	0.507000														13			9		5.68852e-11	6.31062e-11	0.004482	1	0
KCTD16	57528	broad.mit.edu	37	5	143586587	143586587	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:143586587G>A	uc003lnm.1	+	2	939	c.310G>A	c.(310-312)Gga>Aga	p.G104R	KCTD16_uc003lnn.1_Missense_Mutation_p.G104R	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	104						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TCCAGAAAAAGGAAGACTGAA	0.473000														38			11		0	0	0.001855	0	0
ACTR1A	10121	broad.mit.edu	37	10	104248026	104248027	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:104248026_104248027GG>AA	uc001kvv.3	-	3	303_304	c.195_196CC>TT	c.(193-198)caccga>caTTga	p.R66*	ACTR1A_uc010qqn.2_5'UTR|ACTR1A_uc010qqo.2_Nonsense_Mutation_p.R19*	NM_005736	NP_005727	P61163	ACTZ_HUMAN	Homo sapiens ARP1 actin-related protein 1 homolog A, centractin alpha (yeast) (ACTR1A), mRNA.	66					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		AGCAGCCCTCGGTGCTCCTGGG	0.515000														52			10		0	0	0.004672	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643682	37643682	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:37643682C>T	uc002ofo.1	-	4	1350	c.1119G>A	c.(1117-1119)caG>caA	p.Q373Q	ZNF585A_uc002ofm.1_Silent_p.Q318Q|ZNF585A_uc002ofn.1_Silent_p.Q318Q	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTGAATTCTCTGATGAATAA	0.423000														54			32		0	0	0.009535	0	0
EXOC6	54536	broad.mit.edu	37	10	94733941	94733941	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:94733941C>T	uc010qnr.2	+	18	2096	c.1953C>T	c.(1951-1953)gaC>gaT	p.D651D	EXOC6_uc001kie.3_Silent_p.D630D|EXOC6_uc001kig.3_Silent_p.D635D|EXOC6_uc009xub.3_Silent_p.D634D|EXOC6_uc009xuc.3_Silent_p.D532D|EXOC6_uc001kih.3_Non-coding_Transcript|EXOC6_uc001kii.3_Silent_p.D209D	NM_001013848	NP_001013870	Q8TAG9	EXOC6_HUMAN	Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA.	635					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				ATTTAATGGACCTTATAAATT	0.299000														352			86		0	0	0.014410	0	0
HMGB3P1	128872	broad.mit.edu	37	20	33421435	33421435	+	RNA	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:33421435C>T	uc002xax.3	-	0		c.831G>A								Homo sapiens high mobility group box 3 pseudogene 1 (HMGB3P1), non-coding RNA.																		ccatcttttccCAGGCAACTT	0.408000														6			5		0	0	0.001168	0	0
LRRN1	57633	broad.mit.edu	37	3	3887429	3887429	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:3887429C>T	uc003bpt.4	+	1	1865	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.I368I	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	368						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)		AGATCAGTATCCATAGCAATC	0.493000														60			23		0	0	0.004656	0	0
MMP24	10893	broad.mit.edu	37	20	33834663	33834663	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:33834663C>T	uc002xbu.2	+	1	270	c.267C>T	c.(265-267)ggC>ggT	p.G89G	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.	89					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			AGTCCTATGGCTATCTGCTTC	0.522000														75			44		0	0	0.013114	0	0
CALCR	799	broad.mit.edu	37	7	93090156	93090156	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:93090156C>T	uc003umv.2	-	9	1027	c.727G>A	c.(727-729)Gga>Aga	p.G243R	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.G209R|CALCR_uc003umw.2_Missense_Mutation_p.G209R	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	225					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)	ACGAGCTCTCCATTGGGTACT	0.398000														69			27		0	0	0.006320	0	0
MYO1A	4640	broad.mit.edu	37	12	57431350	57431350	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:57431350G>A	uc001smw.4	-	18	2277	c.2037C>T	c.(2035-2037)ttC>ttT	p.F679F	MYO1A_uc010sqz.2_Silent_p.F517F|MYO1A_uc009zpd.3_Silent_p.F679F	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	679	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GGCTTCTAATGAAGATCTTTG	0.537000														231			108		0	0	0.014410	0	0
TRIM14	9830	broad.mit.edu	37	9	100849829	100849829	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:100849829G>A	uc004ayd.2	-	5	1270	c.1252C>T	c.(1252-1254)Cgc>Tgc	p.R418C	TRIM14_uc011luz.1_Missense_Mutation_p.R196C|TRIM14_uc011lva.1_Missense_Mutation_p.R199C|TRIM14_uc004ayg.1_Missense_Mutation_p.R418C|TRIM14_uc004ayh.1_Missense_Mutation_p.R418C	NM_033220	NP_150089	Q14142	TRI14_HUMAN	Homo sapiens tripartite motif containing 14 (TRIM14), transcript variant 3, mRNA.	418	B30.2/SPRY.			RLRPRDDLDRLGVFLDYEAGVLAFYDVTGGMSHLHTFRATF QEPLYPALRLWEGAISIPRLP -> ACGPATTSTGSASSWT TRPASSPSTT (in Ref. 2; BAA09478).		cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				AACGTGGCGCGGAAGGTATGC	0.716000														0			5		0	0	0.000602	0	0
CACNA2D1	781	broad.mit.edu	37	7	81598213	81598213	+	Silent	SNP	A	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:81598213A>C	uc003uhr.1	-	28	2641	c.2385T>G	c.(2383-2385)ctT>ctG	p.L795L	CACNA2D1_uc011kgy.1_Intron	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	807						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CTGCAGGTTTAAGAAGTTTCC	0.284000														75			26		0	0	0.012213	0	0
OR51B5	282763	broad.mit.edu	37	11	5364678	5364678	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:5364678G>A	uc001map.1	-	0	77	c.77C>T	c.(76-78)tCc>tTc	p.S26F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.S26F	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S26F(2)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAAAATACGGAAATCCAGTG	0.438000														40			20		0	0	0.008871	0	0
DNAH17	8632	broad.mit.edu	37	17	76437248	76437248	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:76437248G>A	uc010dhp.2	-	71	11687	c.11562C>T	c.(11560-11562)ttC>ttT	p.F3854F	DNAH17_uc002jvq.3_Silent_p.F139F|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGCCTTCCACGAACTTGCTGC	0.602000														31			22		0	0	0.003330	0	0
CADPS	8618	broad.mit.edu	37	3	62535633	62535633	+	Silent	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:62535633T>C	uc003dll.2	-	10	2271	c.1911A>G	c.(1909-1911)aaA>aaG	p.K637K	CADPS_uc003dlk.1_Silent_p.K141K|CADPS_uc003dlm.2_Silent_p.K637K|CADPS_uc003dln.2_Silent_p.K637K|CADPS_uc021wzv.1_Silent_p.K637K	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	637					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)		TGGCGTTGAGTTTCTGGACTT	0.507000														78			53		0	0	0.014410	0	0
UPK3A	7380	broad.mit.edu	37	22	45689150	45689150	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:45689150C>T	uc003bfy.3	+	4	687	c.660C>T	c.(658-660)ttC>ttT	p.F220F	UPK3A_uc010gzy.3_Silent_p.F99F	NM_006953	NP_008884	O75631	UPK3A_HUMAN	Homo sapiens uroplakin 3A (UPK3A), transcript variant 1, mRNA.	220					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CCCTGCCCTTCTTTCTACTTG	0.607000														55			28		0	0	0.008361	0	0
WNK4	65266	broad.mit.edu	37	17	40936554	40936554	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:40936554C>T	uc002ibj.3	+	3	1195	c.1127C>T	c.(1126-1128)tCc>tTc	p.S376F	WNK4_uc010wgx.2_Missense_Mutation_p.P70S|WNK4_uc002ibk.1_Missense_Mutation_p.S148F|WNK4_uc010wgy.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	376	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TACCCGTACTCCGAGTGCCAG	0.592000														32			10		0	0	0.008291	0	0
CPE	1363	broad.mit.edu	37	4	166388870	166388870	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:166388870C>T	uc003irg.4	+	2	812	c.535C>T	c.(535-537)Cga>Tga	p.R179*		NM_001873	NP_001864	P16870	CBPE_HUMAN	Homo sapiens carboxypeptidase E (CPE), mRNA.	179					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTTTGTGGGTCGAAGCAATGC	0.388000														32			11		0	0	0.010729	0	0
C10orf129	142827	broad.mit.edu	37	10	96967153	96967153	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:96967153G>A	uc001kke.3	+	3	717	c.592G>A	c.(592-594)Gat>Aat	p.D198N	C10orf129_uc009xuu.1_Missense_Mutation_p.D108N	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA.	198					fatty acid metabolic process	mitochondrion	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		TGGGTGGTTGGATTTCAAGAA	0.418000														30			23		0	0	0.003330	0	0
ZFR	51663	broad.mit.edu	37	5	32385616	32385617	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:32385616_32385617CC>TT	uc003jhr.1	-	14	2718_2719	c.2638_2639GG>AA	c.(2638-2640)gga>AAa	p.G880K	ZFR_uc010ium.1_5'Flank|ZFR_uc011cny.1_Non-coding_Transcript	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	880	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TTTCCAACCTCCTTCCCTCATG	0.371000														78			34		0	0	0.004672	0	0
CATSPERB	79820	broad.mit.edu	37	14	92055942	92055942	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:92055942G>A	uc001xzs.1	-	23	3032	c.2892C>T	c.(2890-2892)gtC>gtT	p.V964V	CATSPERB_uc010aub.1_Silent_p.V486V	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	964					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ATTGCAATGGGACACGTCCAT	0.368000														37			21		0	0	0.014323	0	0
MUC4	4585	broad.mit.edu	37	3	195487808	195487808	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:195487808C>T	uc021xjp.1	-	15	14951	c.14795G>A	c.(14794-14796)gGa>gAa	p.G4932E	MUC4_uc003fuz.3_Missense_Mutation_p.G530E|MUC4_uc003fva.3_Missense_Mutation_p.G412E|MUC4_uc003fvb.3_Missense_Mutation_p.G448E|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Missense_Mutation_p.G448E|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Missense_Mutation_p.G441E|MUC4_uc021xjn.1_Missense_Mutation_p.G621E|MUC4_uc021xjo.1_Missense_Mutation_p.G412E|MUC4_uc021xjg.1_Missense_Mutation_p.G412E|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Missense_Mutation_p.G496E|MUC4_uc021xjj.1_Missense_Mutation_p.G496E|MUC4_uc021xjk.1_Missense_Mutation_p.G673E|MUC4_uc021xjl.1_Missense_Mutation_p.G412E|MUC4_uc003fvo.3_Missense_Mutation_p.G696E|MUC4_uc003fvp.3_Missense_Mutation_p.G645E	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1689					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CGTGTGAAGTCCGATGCTTGC	0.552000														64			12		0	0	0.013537	0	0
PRDM9	56979	broad.mit.edu	37	5	23527680	23527680	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:23527680G>A	uc003jgo.3	+	10	2665	c.2483G>A	c.(2482-2484)gGg>gAg	p.G828E		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	828					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.T827R(1)		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						ACACACACAGGGGAGAAGCCC	0.582000										HNSCC(3;0.000094)				95			48		0	0	0.014410	0	0
TPRG1	285386	broad.mit.edu	37	3	188925383	188925383	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:188925383G>A	uc003frv.2	+	7	1437	c.210_splice	c.e7+1	p.R70_splice	TPRG1_uc003frw.2_Splice_Site_p.R70_splice	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	Homo sapiens tumor protein p63 regulated 1 (TPRG1), mRNA.	70										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		TTGCTACACGGGTAAATTTAT	0.368000														46			37		0	0	0.006999	0	0
GPRC6A	222545	broad.mit.edu	37	6	117130485	117130485	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:117130485T>C	uc003pxj.1	-	1	512	c.490A>G	c.(490-492)Atg>Gtg	p.M164V	GPRC6A_uc003pxk.1_Missense_Mutation_p.M164V|GPRC6A_uc003pxl.1_Missense_Mutation_p.M164V	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	164					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ACCTGTGGCATGAGCTGTAAA	0.423000														51			19		0	0	0.008871	0	0
C18orf34	374864	broad.mit.edu	37	18	30847258	30847258	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:30847258C>T	uc010xbr.1	-	11	1322	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	C18orf34_uc010dme.1_5'Flank|C18orf34_uc002kxn.2_Missense_Mutation_p.E394K|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.E394K|C18orf34_uc002kxp.3_Missense_Mutation_p.E394K	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	394										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						CTCAAATCTTCCAGCTAAGAA	0.303000														45			41		0	0	0.008740	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603430	140603430	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140603430G>A	uc003ljb.3	+	0	353	c.353G>A	c.(352-354)cGg>cAg	p.R118Q		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	118	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGTTTTTTCGGTTTGAGCTG	0.433000														84			24		0	0	0.003330	0	0
PRRC2B	84726	broad.mit.edu	37	9	134350747	134350747	+	Silent	SNP	T	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:134350747T>G	uc004can.4	+	14	3286	c.3231T>G	c.(3229-3231)cgT>cgG	p.R1077R	PRRC2B_uc010mzj.1_Silent_p.R660R|PRRC2B_uc004cao.4_Silent_p.R435R	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	1077							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TCACTTTTCGTGGTCGGCCTG	0.632000														6			12		0	0	0.010729	0	0
EPHA1	2041	broad.mit.edu	37	7	143097141	143097142	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:143097141_143097142GG>AA	uc003wcz.3	-	3	524_525	c.437_438CC>TT	c.(436-438)acc>aTT	p.T146I		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	146						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CAGCCACCGTGGTTACCTGGGT	0.545000														26			18		0	0	0.004672	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55285022	55285022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:55285022C>T	uc010erz.1	+	2	346	c.308C>T	c.(307-309)tCt>tTt	p.S103F	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.S103F	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	103	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)		TGCTACGGTTCTGTTACTCAC	0.527000														43			110		0	0	0.014410	0	0
NBEA	26960	broad.mit.edu	37	13	35735898	35735898	+	Silent	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:35735898T>C	uc021rid.1	+	22	4407	c.3873T>C	c.(3871-3873)ggT>ggC	p.G1291G	NBEA_uc021ric.1_Silent_p.G1291G|NBEA_uc010abi.3_5'UTR	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1291						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTGTGCAGGGTCGGTCTATCA	0.428000														10			4		0	0	0.000602	0	0
OR9G4	283189	broad.mit.edu	37	11	56510657	56510657	+	Missense_Mutation	SNP	C	T	T	rs147669235		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:56510657C>T	uc010rjo.2	-	0	631	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E211K(2)		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						AGGACTTTTTCGTAGACCCTG	0.438000														36			12		0	0	0.013537	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94337726	94337726	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:94337726G>A	uc001dqf.3	-	4	2027	c.1969C>T	c.(1969-1971)Ctg>Ttg	p.L657L	DNTTIP2_uc010otm.2_Non-coding_Transcript	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 2 (DNTTIP2), mRNA.	657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TCATTTTTCAGTTCATTTGTC	0.378000														136			78		0	0	0.014410	0	0
FAM55D	54827	broad.mit.edu	37	11	114442193	114442193	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:114442193G>A	uc001ppc.3	-	5	1283	c.1102C>T	c.(1102-1104)Ctg>Ttg	p.L368L	FAM55D_uc001ppd.3_Silent_p.L84L	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	368						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		ACTGACTTCAGTGCTGATAAC	0.353000														48			76		0	0	0.014410	0	0
ST18	9705	broad.mit.edu	37	8	53062531	53062531	+	Missense_Mutation	SNP	C	T	T	rs144486751		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:53062531C>T	uc003xqz.2	-	10	1969	c.1813G>A	c.(1813-1815)Gaa>Aaa	p.E605K	ST18_uc011ldq.1_Missense_Mutation_p.E252K|ST18_uc011ldr.1_Missense_Mutation_p.E570K|ST18_uc011lds.1_Missense_Mutation_p.E510K|ST18_uc003xra.2_Missense_Mutation_p.E605K|ST18_uc003xrb.2_Missense_Mutation_p.E605K	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	605						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)				ACTTCTATTTCGGCTCCCTGG	0.398000														67			25		0	0	0.003954	0	0
RP1L1	94137	broad.mit.edu	37	8	10469741	10469741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:10469741C>T	uc003wtc.3	-	3	2096	c.1867G>A	c.(1867-1869)Gga>Aga	p.G623R		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	623					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)		GAAGAGGCTCCTTCCGAGTCC	0.652000														44			34		0	0	0.012213	0	0
TSSC1	7260	broad.mit.edu	37	2	3197850	3197850	+	Silent	SNP	G	A	A	rs148363289	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:3197850G>A	uc002qxj.2	-	6	934	c.741C>T	c.(739-741)tgC>tgT	p.C247C	TSSC1_uc002qxi.2_Non-coding_Transcript	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN	Homo sapiens tumor suppressing subtransferable candidate 1 (TSSC1), mRNA.	247							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		AGTCGTCTCCGCAGCTGGCCA	0.572000														44			51		0	0	0.014410	0	0
OR2T8	343172	broad.mit.edu	37	1	248084415	248084415	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:248084415C>T	uc010pzc.2	+	0	96	c.96C>T	c.(94-96)atC>atT	p.I32I		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	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;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTCTGAGTATCGTTTTGACCT	0.483000														55			24		0	0	0.004656	0	0
MKX	283078	broad.mit.edu	37	10	28024185	28024185	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:28024185C>T	uc001ity.4	-	3	692	c.467G>A	c.(466-468)cGg>cAg	p.R156Q	MKX_uc001itx.4_Missense_Mutation_p.R156Q	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	156					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R156W(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TACGCTAAGCCGTTCAGCATT	0.378000														66			30		0	0	0.007291	0	0
FAM135B	51059	broad.mit.edu	37	8	139164304	139164304	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:139164304C>T	uc003yuy.3	-	12	2585	c.2414G>A	c.(2413-2415)aGc>aAc	p.S805N	FAM135B_uc003yux.3_Missense_Mutation_p.S706N|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.S367N|FAM135B_uc003yvb.3_Missense_Mutation_p.S367N	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	805								p.K804N(1)		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)			GGAACCTTGGCTCTTGCTGTG	0.522000										HNSCC(54;0.14)				73			21		0	0	0.008871	0	0
GDF2	2658	broad.mit.edu	37	10	48416410	48416410	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:48416410C>T	uc001jfa.1	-	0	444	c.284G>A	c.(283-285)aGg>aAg	p.R95K		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	95					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GGACGTGTACCTGTTGTACAG	0.582000														34			32		0	0	0.003271	0	0
FAM86EP	348926	broad.mit.edu	37	4	3948363	3948364	+	RNA	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:3948363_3948364CC>TT	uc011bvu.2	-	4		c.1971_1972GG>AA			FAM86EP_uc003ghn.3_Intron					Homo sapiens family with sequence similarity 86, member E, pseudogene (FAM86EP), non-coding RNA.																		CGGCCTCTGCCCGAGTTCCCCG	0.653000														4			5		0	0	0.004672	0	0
SUPT16H	11198	broad.mit.edu	37	14	21834603	21834603	+	Silent	SNP	G	A	A	rs112444644		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:21834603G>A	uc001wao.2	-	7	1380	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N		NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.	347					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CATACCCTAGGTTTTTGGTAA	0.393000														110			28		0	0	0.006320	0	0
CNOT6L	246175	broad.mit.edu	37	4	78650093	78650094	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:78650093_78650094GG>AA	uc011ccd.2	-	9	1297_1298	c.1166_1167CC>TT	c.(1165-1167)gcc>gTT	p.A389V	CNOT6L_uc003hks.3_Missense_Mutation_p.A389V|CNOT6L_uc003hkt.1_Missense_Mutation_p.A232V	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6-like (CNOT6L), mRNA.	389					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GCCTACTAGAGGCTTTCTCCAG	0.450000														105			59		0	0	0.004672	0	0
TTPAL	79183	broad.mit.edu	37	20	43113135	43113135	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:43113135C>T	uc002xmc.1	+	3	728	c.604C>T	c.(604-606)Cct>Tct	p.P202S	TTPAL_uc002xmd.1_Missense_Mutation_p.P202S|TTPAL_uc010ggr.1_Intron	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN	Homo sapiens tocopherol (alpha) transfer protein-like (TTPAL), transcript variant 1, mRNA.	202	CRAL-TRIO.					intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						TCACTTTGGCCCTTTTATAGC	0.453000														42			21		0	0	0.003330	0	0
ABCG5	64240	broad.mit.edu	37	2	44041707	44041707	+	Silent	SNP	A	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:44041707A>T	uc002rtn.3	-	11	1811	c.1671T>A	c.(1669-1671)atT>atA	p.I557I	ABCG5_uc002rtm.3_Silent_p.I162I|ABCG5_uc002rto.3_Silent_p.I386I|ABCG5_uc002rtp.3_Silent_p.I162I	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.	557	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTTTAAAAGGAATGGGCATTT	0.318000														228			47		0	0	0.013114	0	0
LLGL2	3993	broad.mit.edu	37	17	73565087	73565087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:73565087G>A	uc002joh.3	+	12	1505	c.1351G>A	c.(1351-1353)Gat>Aat	p.D451N	LLGL2_uc002joi.3_Missense_Mutation_p.D451N|LLGL2_uc010dgg.2_Missense_Mutation_p.D451N|LLGL2_uc002joj.3_Missense_Mutation_p.D440N|LLGL2_uc010wsd.2_Missense_Mutation_p.D78N	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	451					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCGGTTCTGGGATGCCTCGGG	0.667000														16			9		0	0	0.006214	0	0
AIFM2	84883	broad.mit.edu	37	10	71880960	71880960	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:71880960G>A	uc010qjg.2	-	2	318	c.302C>T	c.(301-303)cCc>cTc	p.P101L	AIFM2_uc021psi.1_Missense_Mutation_p.P101L|AIFM2_uc001jqp.2_Missense_Mutation_p.P101L	NM_001198696	NP_001185625	Q9BRQ8	AIFM2_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 2 (AIFM2), transcript variant 1, mRNA.	101					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						ATGAGAGAAGGGCAGGGCCTG	0.532000														29			7		0	0	0.004482	0	0
WDR85	92715	broad.mit.edu	37	9	140450068	140450068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:140450068G>A	uc004cnk.1	-	8	1140	c.982C>T	c.(982-984)Cac>Tac	p.H328Y	WDR85_uc004cni.3_Non-coding_Transcript|WDR85_uc004cnj.1_Missense_Mutation_p.H57Y|WDR85_uc004cnm.1_Missense_Mutation_p.H89Y	NM_138778	NP_620133	Q9BTV6	WDR85_HUMAN	Homo sapiens WD repeat domain 85 (WDR85), mRNA.	328					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)		GGCAATGTGTGAGATGTCAGG	0.602000														18			27		0	0	0.007291	0	0
DCC	1630	broad.mit.edu	37	18	50912476	50912476	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:50912476T>A	uc002lfe.2	+	15	3039	c.2423T>A	c.(2422-2424)cTt>cAt	p.L808H	DCC_uc010xdr.1_Missense_Mutation_p.L656H|DCC_uc010dpf.2_Missense_Mutation_p.L463H	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	808	Fibronectin type-III 4.				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)		GGAGTTCCTCTTTATGAAAGT	0.348000														36			13		0	0	0.004007	0	0
CFTR	1080	broad.mit.edu	37	7	117246732	117246732	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:117246732G>A	uc003vjd.3	+	17	3045	c.2913G>A	c.(2911-2913)ggG>ggA	p.G971G	CFTR_uc011knq.2_Silent_p.G377G	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	971	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)	TTATAGGTGGGATTCTTAATA	0.303000									Cystic Fibrosis					111			59		0	0	0.014410	0	0
PCGF2	7703	broad.mit.edu	37	17	36896591	36896592	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:36896591_36896592CC>TT	uc002hqp.1	-	2	310_311	c.64_65GG>AA	c.(64-66)ggg>AAg	p.G22K		NM_007144	NP_009075	P35227	PCGF2_HUMAN	Homo sapiens polycomb group ring finger 2 (PCGF2), mRNA.	22					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					GAAGTACCCCCCGCAGAGGGCA	0.619000														88			32		0	0	0.004672	0	0
MUC16	94025	broad.mit.edu	37	19	9046853	9046853	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9046853G>A	uc002mkp.3	-	4	34982	c.34778C>T	c.(34777-34779)cCc>cTc	p.P11593L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11595	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						GGAAAAGTTGGGAATTGTCCC	0.522000														56			30		0	0	0.010818	0	0
ALOX15	246	broad.mit.edu	37	17	4540538	4540538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:4540538C>T	uc002fyh.3	-	6	848	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	ALOX15_uc010vsd.2_Missense_Mutation_p.E236K|ALOX15_uc010vse.2_Missense_Mutation_p.E297K	NM_001140	NP_001131	P16050	LOX15_HUMAN	Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	275	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	AAGTCAGCTTCGAACAGTGTG	0.547000														13			18		0	0	0.010504	0	0
IMPG1	3617	broad.mit.edu	37	6	76744366	76744366	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:76744366G>A	uc003pik.1	-	2	570	c.440C>T	c.(439-441)tCc>tTc	p.S147F		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	147					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GTGCTCCTGGGAATTGCTGAA	0.527000														61			26		0	0	0.007291	0	0
LIN28A	79727	broad.mit.edu	37	1	26751920	26751920	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:26751920G>A	uc001bmj.3	+	2	469	c.355G>A	c.(355-357)Ggg>Agg	p.G119R	LIN28A_uc001bmi.1_Non-coding_Transcript	NM_024674	NP_078950	Q9H9Z2	LN28A_HUMAN	Homo sapiens lin-28 homolog A (C. elegans) (LIN28A), mRNA.	119					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						ATTCTGTATTGGGAGTGAGAG	0.512000														97			47		0	0	0.014410	0	0
TRPV4	59341	broad.mit.edu	37	12	110238505	110238505	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:110238505G>A	uc001tpj.2	-	3	866	c.771C>T	c.(769-771)ctC>ctT	p.L257L	TRPV4_uc001tpg.2_Silent_p.L223L|TRPV4_uc021rdp.1_Silent_p.L257L|TRPV4_uc001tph.2_Intron|TRPV4_uc001tpi.2_Intron|TRPV4_uc001tpk.2_Silent_p.L257L	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	257					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCTGGGCCACGAGAAGTTCCA	0.637000														33			25		0	0	0.005443	0	0
PRIC285	85441	broad.mit.edu	37	20	62199807	62199807	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:62199807G>A	uc002yfm.2	-	5	2526	c.1634C>T	c.(1633-1635)cCc>cTc	p.P545L	PRIC285_uc002yfl.1_5'Flank	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	545					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GGTGCCAAAGGGGCCATAGAT	0.652000														15			4		0	0	0.009096	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23069692	23069692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:23069692G>A	uc003xda.3	-	1	446	c.340C>T	c.(340-342)Cat>Tat	p.H114Y		NM_003844	NP_003835	O00220	TR10A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10a (TNFRSF10A), mRNA.	114					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		TRAIL binding|caspase activator activity|death receptor activity|transcription factor binding	p.L113F(1)		NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		GATTGATCATGAAGTTTGATG	0.473000														86			14		0	0	0.002450	0	0
OR56A3	390083	broad.mit.edu	37	11	5968909	5968909	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:5968909C>T	uc010qzt.2	+	0	333	c.333C>T	c.(331-333)ttC>ttT	p.F111F		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAATTGTTTCCTAGCCATGG	0.493000														93			59		0	0	0.014410	0	0
SLC17A1	6568	broad.mit.edu	37	6	25826732	25826732	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:25826732C>T	uc003nfh.4	-	2	280	c.164G>A	c.(163-165)gGt>gAt	p.G55D	SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Missense_Mutation_p.G55D|SLC17A1_uc010jqc.1_Missense_Mutation_p.G53D	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	55					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GTTGGGCAAACCATGTGGATC	0.408000														90			48		0	0	0.014410	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48597082	48597082	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:48597082A>G	uc010wmr.2	+	6	1141	c.979A>G	c.(979-981)Act>Gct	p.T327A	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	290					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CAAGACAAAAACTCAGCGTGG	0.552000														32			22		0	0	0.010504	0	0
ATP8B1	5205	broad.mit.edu	37	18	55319961	55319961	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:55319961C>T	uc002lgw.3	-	25	3136	c.3016_splice	c.e25-1	p.D1006_splice	LOC100505549_uc002lgu.2_Intron|LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	1006					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TCACTCACATCCTTAAGGAGA	0.363000														30			32		0	0	0.003755	0	0
SMC4	10051	broad.mit.edu	37	3	160118641	160118641	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:160118641C>T	uc003fdh.3	+	1	140	c.27C>T	c.(25-27)tcC>tcT	p.S9S	IFT80_uc003fda.3_Intron|IFT80_uc021xgq.1_5'Flank|IFT80_uc003fde.2_5'Flank|IFT80_uc003fdd.2_5'Flank|SMC4_uc003fdf.1_Non-coding_Transcript|SMC4_uc003fdg.1_Silent_p.S9S|SMC4_uc010hwc.1_5'UTR|SMC4_uc003fdi.3_Silent_p.S9S|SMC4_uc003fdj.3_Silent_p.S9S|SMC4_uc010hwd.3_Silent_p.S9S	NM_001002800	NP_005487	Q9NTJ3	SMC4_HUMAN	Homo sapiens structural maintenance of chromosomes 4 (SMC4), transcript variant 2, mRNA.	9					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	p.P8L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CCCAGCCCTCCACTGCCCGGC	0.786000														5			5		0	0	0.001168	0	0
COL12A1	1303	broad.mit.edu	37	6	75833061	75833061	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:75833061G>A	uc021zbv.1	-	41	6966	c.6931C>T	c.(6931-6933)Cca>Tca	p.P2311S	COL12A1_uc021zbw.1_Missense_Mutation_p.P1147S|COL12A1_uc003phs.3_Missense_Mutation_p.P2311S|COL12A1_uc003pht.3_Missense_Mutation_p.P1147S	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2311					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						CGGGCTGGTGGAATGGTGGGA	0.433000														12			5		0	0	0.001168	0	0
TRPC7	57113	broad.mit.edu	37	5	135692364	135692364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:135692364G>A	uc003lbn.2	-	1	934	c.712C>T	c.(712-714)Cct>Tct	p.P238S	TRPC7_uc010jef.2_Missense_Mutation_p.P229S|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.P238S|TRPC7_uc010jei.2_Missense_Mutation_p.P238S	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	238					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)			GTGAGGACAGGGTCTTCGCTG	0.562000														23			5		0	0	0.001984	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785695	1785695	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:1785695C>T	uc002ltw.3	-	25	3400	c.3166G>A	c.(3166-3168)Gag>Aag	p.E1056K	ATP8B3_uc002ltv.3_Missense_Mutation_p.E1019K|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	1056					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCTCTGCTCTGCGCTCACG	0.622000														12			9		0	0	0.008291	0	0
NLRP14	338323	broad.mit.edu	37	11	7070991	7070991	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:7070991G>A	uc001mfb.1	+	5	2536	c.2213G>A	c.(2212-2214)gGg>gAg	p.G738E		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	738					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GACCTAAAAGGGAGTGATATA	0.383000														106			48		0	0	0.014410	0	0
LGR5	8549	broad.mit.edu	37	12	71977724	71977724	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:71977724T>A	uc001swl.3	+	17	1982	c.1934T>A	c.(1933-1935)aTt>aAt	p.I645N	LGR5_uc001swm.3_Missense_Mutation_p.I621N|LGR5_uc021rar.1_Missense_Mutation_p.I573N|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	645						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TTTTTGTCCATTTTTGCTTCA	0.473000														346			180		0	0	0.014410	0	0
LOC645166	645166	broad.mit.edu	37	1	148932901	148932901	+	RNA	SNP	C	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:148932901C>G	uc010pbc.1	+	1		c.216C>G			LOC645166_uc010pbd.1_Non-coding_Transcript|LOC645166_uc009wkw.1_Non-coding_Transcript					Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC645166), transcript variant 2, non-coding RNA.																		CAGTCTGCGGCCAAGACTCCG	0.612000														118			7		0	0	0.008291	0	0
TNFAIP2	7127	broad.mit.edu	37	14	103597417	103597417	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:103597417G>A	uc001ymm.1	+	5	1359	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	TNFAIP2_uc010awo.1_Missense_Mutation_p.E122K|TNFAIP2_uc010txz.1_Missense_Mutation_p.E79K|TNFAIP2_uc010tya.1_5'Flank	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 2 (TNFAIP2), mRNA.	410					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			TGAATTTCTGGAGAGAGGCAA	0.562000														70			11		0	0	0.013537	0	0
AGXT2L1	64850	broad.mit.edu	37	4	109670491	109670491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:109670491C>T	uc003hzc.3	-	7	1011	c.830G>A	c.(829-831)gGa>gAa	p.G277E	AGXT2L1_uc010imc.3_Missense_Mutation_p.G271E|AGXT2L1_uc011cfm.2_Missense_Mutation_p.G237E|AGXT2L1_uc011cfn.2_Missense_Mutation_p.G204E|AGXT2L1_uc011cfo.2_Missense_Mutation_p.G219E	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA.	277					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		CATCGGTTTTCCCATTGTGAC	0.468000														85			40		0	0	0.007835	0	0
PKHD1	5314	broad.mit.edu	37	6	51934295	51934295	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:51934295G>A	uc003pah.1	-	10	1014	c.738C>T	c.(736-738)atC>atT	p.I246I	PKHD1_uc003pai.3_Silent_p.I246I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	246					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.I246V(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTTTAGCACTGATCAGCCATG	0.453000														134			81		0	0	0.014410	0	0
ZNF592	9640	broad.mit.edu	37	15	85342003	85342003	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:85342003C>T	uc002bld.3	+	7	3257	c.2921C>T	c.(2920-2922)gCc>gTc	p.A974V	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	974					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGGGTGGAAGCCAGGCCGCGG	0.647000														10			8		0	0	0.003080	0	0
RP1	6101	broad.mit.edu	37	8	55538781	55538781	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:55538781G>A	uc003xsd.1	+	3	2487	c.2339G>A	c.(2338-2340)aGa>aAa	p.R780K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	780					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)			AGAAAATCTAGATCACTAAAT	0.294000														48			17		0	0	0.006122	0	0
PLA2R1	22925	broad.mit.edu	37	2	160901448	160901448	+	Silent	SNP	G	A	A	rs147284017	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:160901448G>A	uc002ube.2	-	1	542	c.330C>T	c.(328-330)ctC>ctT	p.L110L	PLA2R1_uc010zcp.2_Silent_p.L110L|PLA2R1_uc002ubf.3_Silent_p.L110L	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	110	Ricin B-type lectin.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTAAGGAAACGAGGGTGGAGT	0.542000														51			15		0	0	0.004007	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763421	77763421	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:77763421C>T	uc003yau.2	+	9	4651	c.4264C>T	c.(4264-4266)Cgg>Tgg	p.R1422W	ZFHX4_uc003yaw.1_Missense_Mutation_p.R1377W	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1377						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1422L(1)|p.R1422Q(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCATGCAATTCGGGCTGCGAC	0.458000										HNSCC(33;0.089)				20			11		0	0	0.008291	0	0
NPRL3	8131	broad.mit.edu	37	16	142606	142606	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:142606G>A	uc002cfr.3	-	10	1273	c.1149C>T	c.(1147-1149)ccC>ccT	p.P383P	NPRL3_uc010uua.1_Non-coding_Transcript|NPRL3_uc002cfp.2_Non-coding_Transcript|NPRL3_uc021szl.1_Silent_p.P305P|NPRL3_uc021szm.1_Silent_p.P358P|NPRL3_uc021szn.1_Silent_p.P358P|NPRL3_uc002cfq.3_Silent_p.P204P	NM_001077350	NP_001070818	Q12980	NPRL3_HUMAN	Homo sapiens nitrogen permease regulator-like 3 (S. cerevisiae) (NPRL3), transcript variant 1, mRNA.	383							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						CCTGCACAGCGGGGGCCAGGG	0.567000														8			9		0	0	0.004482	0	0
CRLF2	64109	broad.mit.edu	37	X	1321287	1321287	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:1321287G>A	uc004cpk.2	-	3	470	c.468C>T	c.(466-468)ttC>ttT	p.F156F	CRLF2_uc022brt.1_Silent_p.F156F|CRLF2_uc004cpl.2_Silent_p.F44F|CRLF2_uc022brs.1_Silent_p.F156F	NM_022148	NP_071431	Q9HC73	CRLF2_HUMAN	Homo sapiens cytokine receptor-like factor 2 (CRLF2), transcript variant 1, mRNA.	156	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				ACTCGGTGTCGAAGGGGCTCC	0.617000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""									30			22		0	0	0.002780	0	0
CCDC147	159686	broad.mit.edu	37	10	106152114	106152114	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:106152114G>A	uc001kyh.3	+	9	1623	c.1489G>A	c.(1489-1491)Gac>Aac	p.D497N		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	497								p.D497E(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TGTGAGATCAGACAGAAATCT	0.299000														51			47		0	0	0.014410	0	0
PEG3	5178	broad.mit.edu	37	19	57327369	57327369	+	Missense_Mutation	SNP	T	C	C	rs147407205		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:57327369T>C	uc002qnu.2	-	6	2792	c.2441A>G	c.(2440-2442)aAc>aGc	p.N814S	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.N785S|PEG3_uc002qnv.2_Missense_Mutation_p.N814S|PEG3_uc002qnw.2_Missense_Mutation_p.N690S|PEG3_uc002qnx.2_Missense_Mutation_p.N688S|PEG3_uc010etr.2_Missense_Mutation_p.N814S	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	814					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)		TCTCTGATGGTTGATAGCATC	0.478000														84			55		0	0	0.014410	0	0
WDR7	23335	broad.mit.edu	37	18	54424156	54424157	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:54424156_54424157CC>TT	uc002lgk.1	+	14	2543_2544	c.2332_2333CC>TT	c.(2332-2334)cct>TTt	p.P778F	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Missense_Mutation_p.P778F	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	778										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGAAAGTGATCCTGAATATCGG	0.426000														26			6		0	0	0.004672	0	0
CATSPERG	57828	broad.mit.edu	37	19	38852894	38852894	+	Silent	SNP	G	A	A	rs150226178		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:38852894G>A	uc002oih.4	+	17	2226	c.2139G>A	c.(2137-2139)gcG>gcA	p.A713A	CATSPERG_uc002oig.4_Silent_p.A673A|CATSPERG_uc002oif.4_Silent_p.A353A|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	713					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						GCTGGTGGGCGAACAACAAAC	0.716000														7			11		0	0	0.010729	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572455	140572455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140572455G>A	uc003lix.3	+	0	504	c.330G>A	c.(328-330)atG>atA	p.M110I		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	110	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATTTTAATGGATGATCCCT	0.428000														33			8		0	0	0.008291	0	0
MECOM	2122	broad.mit.edu	37	3	168833510	168833510	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:168833510G>A	uc011bpj.1	-	7	2553	c.2150C>T	c.(2149-2151)tCg>tTg	p.S717L	MECOM_uc010hwk.1_Missense_Mutation_p.S552L|MECOM_uc003ffj.3_Missense_Mutation_p.S594L|MECOM_uc003ffi.3_Missense_Mutation_p.S529L|MECOM_uc011bpi.1_Missense_Mutation_p.S530L|MECOM_uc003ffn.3_Missense_Mutation_p.S529L|MECOM_uc003ffk.2_Missense_Mutation_p.S529L|MECOM_uc003ffl.2_Missense_Mutation_p.S689L|MECOM_uc011bpk.1_Missense_Mutation_p.S529L|MECOM_uc010hwn.2_Missense_Mutation_p.S717L	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						CAAAGGTAACGATCTCAAGTC	0.438000														54			14		0	0	0.002450	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220383832	220383832	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:220383832C>T	uc010puk.1	-	7	675	c.511_splice	c.e7-1	p.N171_splice	RAB3GAP2_uc021pjf.1_Splice_Site_p.N171_splice|RAB3GAP2_uc001hmf.2_Splice_Site|RAB3GAP2_uc001hmg.2_5'UTR|RAB3GAP2_uc010pum.1_Intron	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	171					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GCACACCATTCTAGGAGGAAG	0.473000														68			45		0	0	0.010771	0	0
LILRB1	10859	broad.mit.edu	37	19	55147037	55147037	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:55147037G>A	uc002qgj.3	+	13	1967	c.1627G>A	c.(1627-1629)Gat>Aat	p.D543N	LILRB1_uc010erp.1_Missense_Mutation_p.D158N|LILRB1_uc002qgl.3_Missense_Mutation_p.D543N|LILRB1_uc002qgk.3_Missense_Mutation_p.D544N|LILRB1_uc002qgm.3_Missense_Mutation_p.D544N|LILRB1_uc010erq.3_Missense_Mutation_p.D527N|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	543					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		ACAGCCTGAGGATGGGGTGGA	0.612000										HNSCC(37;0.09)				77			59		0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179425534	179425534	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179425534G>A	uc021vsy.1	-	274	77846	c.77621C>T	c.(77620-77622)gCc>gTc	p.A25874V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A19569V|TTN_uc021vta.1_Missense_Mutation_p.A19502V|TTN_uc021vtb.1_Missense_Mutation_p.A19377V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26801	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)			GCAATTAACGGCCACAGACCG	0.458000														35			10		0	0	0.006214	0	0
DNAJC30	84277	broad.mit.edu	37	7	73097144	73097144	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:73097144C>T	uc003tys.1	-	0	638	c.610G>A	c.(610-612)Gag>Aag	p.E204K	WBSCR22_uc010lbi.1_5'Flank|WBSCR22_uc003tyu.3_5'Flank|WBSCR22_uc003tyv.3_5'Flank|WBSCR22_uc003tyt.3_5'Flank|WBSCR22_uc022afv.1_5'Flank|WBSCR22_uc003tyw.1_5'Flank	NM_032317	NP_115693	Q96LL9	DJC30_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 30 (DNAJC30), mRNA.	204					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)	4						CGGGTATCCTCCCAGCGGAGG	0.572000														76			33		0	0	0.003755	0	0
OR2D2	120776	broad.mit.edu	37	11	6912877	6912877	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:6912877G>A	uc010rau.2	-	0	855	c.855C>T	c.(853-855)ccC>ccT	p.P285P		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TATAGATGAGGGGATTAAGCA	0.443000														45			29		0	0	0.008361	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900216	151900216	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:151900216G>A	uc022chj.1	-	0	585	c.585C>T	c.(583-585)atC>atT	p.I195I	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Silent_p.I195I|MAGEA12_uc022chi.1_Silent_p.I195I|MAGEA12_uc004fgc.3_Silent_p.I195I	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	195	MAGE.							p.I195I(2)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTGGGCACGATCTGATTGT	0.577000														78			48		0	0	0.014410	0	0
CRIM1	51232	broad.mit.edu	37	2	36740728	36740728	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:36740728C>T	uc002rpd.3	+	10	1876	c.1810C>T	c.(1810-1812)Ctg>Ttg	p.L604L		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA.	604					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GCCACCCATCCTGTCGGGCAC	0.537000														54			49		0	0	0.014410	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100441971	100441971	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:100441971G>A	uc001tgq.3	-	17	3951	c.3722C>T	c.(3721-3723)tCc>tTc	p.S1241F	UHRF1BP1L_uc001tgp.3_Missense_Mutation_p.S891F	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	1241										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTTCTGATCGGAACCTAAGGA	0.318000														45			10		0	0	0.013537	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042330	75042330	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:75042330C>T	uc002ayr.1	+	1	315	c.251C>T	c.(250-252)cCc>cTc	p.P84L		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	84					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	p.T83T(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	GGCTCCACGCCCGTGCTGGTG	0.667000														21			24		0	0	0.003330	0	0
DNAJC17	55192	broad.mit.edu	37	15	41068488	41068488	+	Silent	SNP	G	A	A	rs146094788		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:41068488G>A	uc001zms.2	-	5	416	c.384C>T	c.(382-384)atC>atT	p.I128I	DNAJC17_uc010bbz.2_Non-coding_Transcript|DNAJC17_uc010bca.2_Non-coding_Transcript|DNAJC17_uc010bcb.2_Non-coding_Transcript	NM_018163	NP_060633	Q9NVM6	DJC17_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 17 (DNAJC17), mRNA.	128					protein folding		RNA binding|heat shock protein binding|nucleotide binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TCAGGCGTTCGATCTGCAGAG	0.587000														21			13		0	0	0.013537	0	0
KRT24	192666	broad.mit.edu	37	17	38856635	38856635	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:38856635C>T	uc002hvd.3	-	4	913	c.856_splice	c.e4-1	p.E286_splice		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	Homo sapiens keratin 24 (KRT24), mRNA.	286	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				TTCTTCATTTCCTAGCATGAA	0.443000														181			90		0	0	0.014410	0	0
NBPF10	100132406	broad.mit.edu	37	1	144220790	144220790	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:144220790C>T	uc010oxn.1	+	14	1816	c.1776C>T	c.(1774-1776)ctC>ctT	p.L592L	NBPF10_uc010oxo.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Silent_p.L509L|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Silent_p.L265L|NBPF10_uc001ekk.1_Silent_p.L265L|NBPF10_uc010oyd.1_Silent_p.L21L|NBPF10_uc021otp.1_Silent_p.L509L|NBPF10_uc021otu.1_Silent_p.L265L	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	863										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTTCCAGGCTCAGCAGGGAGC	0.448000														221			19		0	0	0.012319	0	0
ARMC4	55130	broad.mit.edu	37	10	28101521	28101521	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:28101521C>T	uc009xky.3	-	19	3153	c.3055G>A	c.(3055-3057)Gat>Aat	p.D1019N	ARMC4_uc010qds.2_Silent_p.R584R|ARMC4_uc010qdt.2_Missense_Mutation_p.D711N|ARMC4_uc001itz.3_Missense_Mutation_p.D1019N	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	1019							binding	p.D1019Y(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCCTGGAGATCCTGGTCAGGG	0.418000														83			15		0	0	0.004990	0	0
ATP10B	23120	broad.mit.edu	37	5	160049461	160049461	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:160049461G>A	uc003lym.1	-	13	2599	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	ATP10B_uc010jit.1_5'Flank|ATP10B_uc003lyn.3_Silent_p.F142F	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	584					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTAAGGCAAGGAAGAAATCAG	0.572000														28			10		0	0	0.006214	0	0
SCAF11	9169	broad.mit.edu	37	12	46320946	46320946	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:46320946G>A	uc001rox.3	-	10	2825	c.2538C>T	c.(2536-2538)tcC>tcT	p.S846S	SCAF11_uc001row.3_Silent_p.S531S|SCAF11_uc001roy.1_Silent_p.S920S	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	846	Arg-rich.				spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						ACTGAGAACGGGATTTTTTCC	0.473000														122			50		0	0	0.014410	0	0
SFXN1	94081	broad.mit.edu	37	5	174936039	174936039	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:174936039G>A	uc003mda.2	+	2	307	c.169G>A	c.(169-171)Gga>Aga	p.G57R	SFXN1_uc003mdb.1_Intron	NM_022754	NP_073591	Q9H9B4	SFXN1_HUMAN	Homo sapiens sideroflexin 1 (SFXN1), mRNA.	57					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)			TCTTAGGCAAGGAATTGTTCC	0.373000														45			40		0	0	0.006230	0	0
PICK1	9463	broad.mit.edu	37	22	38468555	38468555	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:38468555T>C	uc003auq.3	+	8	1018	c.628T>C	c.(628-630)Ttc>Ctc	p.F210L	PICK1_uc003aur.3_Missense_Mutation_p.F210L|PICK1_uc003aus.3_Missense_Mutation_p.F210L|PICK1_uc003aut.3_Missense_Mutation_p.F210L	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN	Homo sapiens protein interacting with PRKCA 1 (PICK1), transcript variant 1, mRNA.	210	AH.				DNA methylation involved in embryo development|DNA methylation involved in gamete generation|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	Golgi apparatus|cell junction|endocytic vesicle membrane|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					TTTTGTGAAGTTCGCCGATGC	0.587000														63			41		0	0	0.007835	0	0
TCL6	27004	broad.mit.edu	37	14	96136862	96136862	+	RNA	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:96136862C>T	uc001yep.1	+	7		c.1661C>T			TCL6_uc021sbf.1_Non-coding_Transcript|TCL6_uc021sbg.1_Non-coding_Transcript|TCL6_uc021sbh.1_Non-coding_Transcript|TCL6_uc001yet.1_Non-coding_Transcript|TCL6_uc001yeu.2_Non-coding_Transcript|TCL6_uc001yev.2_Intron|TCL1B_uc021sbi.1_Non-coding_Transcript|TCL1B_uc001yew.3_Non-coding_Transcript|TCL1B_uc001yex.3_Non-coding_Transcript|TCL1B_uc010avj.3_Non-coding_Transcript					Homo sapiens T-cell leukemia/lymphoma 6 (non-protein coding) (TCL6), non-coding RNA.											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		GTCCTTTTTTCCTTCCTTCTC	0.502000			T	TRA@	T-ALL									29			19		0	0	0.008871	0	0
SYT3	84258	broad.mit.edu	37	19	51129204	51129204	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:51129204G>A	uc002pst.3	-	4	1986	c.1352C>T	c.(1351-1353)aCc>aTc	p.T451I	SYT3_uc002psv.3_Missense_Mutation_p.T451I|SYT3_uc010ycd.2_Missense_Mutation_p.T451I	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	451	C2 2.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TTTGATGATGGTCACGGTGAG	0.592000														36			7		0	0	0.003080	0	0
RNASE4	6038	broad.mit.edu	37	14	21167874	21167874	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:21167874C>T	uc021rol.1	+	0	344	c.344C>T	c.(343-345)tCc>tTc	p.S115F	RNASE4_uc001vxy.4_Missense_Mutation_p.S115F|RNASE4_uc001vxx.4_Non-coding_Transcript|RNASE4_uc001vya.3_Missense_Mutation_p.S115F	NM_194431	NP_919412	P34096	RNAS4_HUMAN	Homo sapiens ribonuclease, RNase A family, 4 (RNASE4), transcript variant 3, mRNA.	115					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		ACAGGAAGTTCCAGGGCACCC	0.527000														95			45		0	0	0.014410	0	0
MUTYH	4595	broad.mit.edu	37	1	45797756	45797756	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:45797756C>T	uc001cnm.3	-	10	1143	c.927G>A	c.(925-927)gtG>gtA	p.V309V	MUTYH_uc001cnf.3_Silent_p.V284V|MUTYH_uc009vxo.3_Silent_p.V284V|MUTYH_uc001cng.3_Silent_p.V295V|MUTYH_uc001cnj.3_Silent_p.V192V|MUTYH_uc001cni.3_Silent_p.V284V|MUTYH_uc001cnh.3_Silent_p.V285V|MUTYH_uc001cnl.3_Silent_p.V298V|MUTYH_uc009vxp.3_Silent_p.V312V|MUTYH_uc001cnn.3_Silent_p.V299V|MUTYH_uc001cno.3_Silent_p.V192V|MUTYH_uc010oll.2_Intron	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	Homo sapiens mutY homolog (E. coli) (MUTYH), transcript variant alpha1, mRNA.	309					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|MutSalpha complex binding|endonuclease activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GTTCCTGCTCCACCTGAGAGG	0.612000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis					58			30		0	0	0.009535	0	0
CLCN6	1185	broad.mit.edu	37	1	11897474	11897474	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:11897474C>T	uc001ate.4	+	19	2326	c.2213C>T	c.(2212-2214)cCt>cTt	p.P738L	CLCN6_uc010oat.2_Missense_Mutation_p.P454L|CLCN6_uc010oau.2_Missense_Mutation_p.P716L|CLCN6_uc010oba.1_5'Flank|CLCN6_uc010oav.1_5'Flank|CLCN6_uc010oay.1_5'Flank|CLCN6_uc010oax.1_5'Flank|CLCN6_uc010oaw.1_5'Flank|CLCN6_uc010oaz.1_5'Flank	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	738					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	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;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CGGTTCCGCCCTCTGACCTTC	0.557000														57			24		0	0	0.003330	0	0
MUC2	4583	broad.mit.edu	37	11	1093781	1093781	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:1093781C>T	uc001lsx.1	+	31	5615	c.5588C>T	c.(5587-5589)tCc>tTc	p.S1863F		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1945						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TCCACCTCTTCCCCTCTCACG	0.627000														190			54		0	0	0.014410	0	0
SNCB	6620	broad.mit.edu	37	5	176053763	176053763	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:176053763C>T	uc010jke.1	-	2	516	c.122_splice	c.e2-1	p.G41_splice	SNCB_uc021yij.1_Splice_Site_p.G41_splice|SNCB_uc003mep.3_Splice_Site_p.G41_splice|SNCB_uc003meq.3_Splice_Site_p.G41_splice|SNCB_uc021yig.1_Intron|SNCB_uc021yih.1_Splice_Site_p.G41_splice|SNCB_uc021yii.1_Intron			Q16143	SYUB_HUMAN	Homo sapiens synuclein, beta (SNCB), transcript variant 1, mRNA.	41	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).						calcium ion binding|phospholipase inhibitor activity			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCTTGCTTCCTGCAGGGAGA	0.577000														26			25		0	0	0.005443	0	0
PTCH1	5727	broad.mit.edu	37	9	98218603	98218603	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:98218603G>A	uc004avk.4	-	18	3449	c.3261C>T	c.(3259-3261)atC>atT	p.I1087I	PTCH1_uc010mro.3_Silent_p.I936I|PTCH1_uc010mrp.3_Silent_p.I936I|PTCH1_uc010mrq.3_Silent_p.I936I|PTCH1_uc004avl.4_Silent_p.I936I|PTCH1_uc004avm.4_Silent_p.I1086I|PTCH1_uc010mrr.3_Silent_p.I1021I	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	1087					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.V1057_L1102del(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CAACAGAAGCGATCAGGATGA	0.522000														21			17		0	0	0.007413	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37465272	37465272	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:37465272C>T	uc003aqt.1	-	15	2016	c.1954G>A	c.(1954-1956)Gaa>Aaa	p.E652K	TMPRSS6_uc003aqs.1_Missense_Mutation_p.E661K	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	661	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CTGTCCTCTTCGTGGTACGGG	0.692000														15			7		0	0	0.006214	0	0
ERICH1	157697	broad.mit.edu	37	8	623858	623858	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:623858A>T	uc003wph.3	-	3	559	c.494T>A	c.(493-495)cTg>cAg	p.L165Q	ERICH1_uc003wpi.3_5'UTR	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	Homo sapiens glutamate-rich 1 (ERICH1), mRNA.	165										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TTTCTTTTTCAGTTTCCTTTT	0.438000														53			49		0	0	0.014410	0	0
KMO	8564	broad.mit.edu	37	1	241714312	241714312	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:241714312A>C	uc009xgp.3	+	3	591	c.280A>C	c.(280-282)Aag>Cag	p.K94Q	KMO_uc001hyy.3_Missense_Mutation_p.K134Q|KMO_uc009xgo.2_Missense_Mutation_p.K134Q	NM_003679	NP_003670	O15229	KMO_HUMAN	Homo sapiens kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) (KMO), mRNA.	94					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			TTCAGGAAAAAAGTCTGCAAT	0.403000														116			78		0	0	0.014410	0	0
FAM135B	51059	broad.mit.edu	37	8	139380195	139380195	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:139380195G>A	uc003yuy.3	-	1	203	c.32C>T	c.(31-33)tCg>tTg	p.S11L	FAM135B_uc003yux.3_5'UTR|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	11								p.S11L(3)|p.S11S(1)		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)			TAGCTCTACCGAAAACTCAAC	0.368000										HNSCC(54;0.14)				83			38		0	0	0.010771	0	0
C16orf57	79650	broad.mit.edu	37	16	58043978	58043978	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:58043978C>T	uc002emz.3	+	2	522	c.411C>T	c.(409-411)ttC>ttT	p.F137F	C16orf57_uc002emy.3_Non-coding_Transcript|C16orf57_uc010via.2_Silent_p.F137F|C16orf57_uc010vib.2_Silent_p.F137F|C16orf57_uc010vic.1_Silent_p.F86F	NM_024598	NP_078874	Q9BQ65	CP057_HUMAN	Homo sapiens chromosome 16 open reading frame 57 (C16orf57), transcript variant 1, mRNA.	137										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	8						TCCTCCCCTTCGTGCAGGCTC	0.602000														33			25		0	0	0.007291	0	0
CRYL1	51084	broad.mit.edu	37	13	21006379	21006379	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:21006379G>A	uc001une.3	-	4	574	c.495C>T	c.(493-495)gcC>gcT	p.A165A	CRYL1_uc001unf.3_Silent_p.A143A|CRYL1_uc001ung.3_Silent_p.A143A|CRYL1_uc010tcp.1_Silent_p.A39A	NM_015974	NP_057058	Q9Y2S2	CRYL1_HUMAN	Homo sapiens crystallin, lambda 1 (CRYL1), mRNA.	165					fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		CTGTCGTAGGGGCCGTCTCCG	0.597000														42			24		0	0	0.003954	0	0
ZNF836	162962	broad.mit.edu	37	19	52660188	52660188	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:52660188C>T	uc010ydj.2	-	4	1270	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	ZNF836_uc010ydi.2_Missense_Mutation_p.E250K	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	Homo sapiens zinc finger protein 836 (ZNF836), mRNA.	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTGCCACATTCATTGCATTTG	0.408000														40			24		0	0	0.004656	0	0
SCN9A	6335	broad.mit.edu	37	2	167134678	167134678	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:167134678C>T	uc010fpl.3	-	14	2797	c.2456G>A	c.(2455-2457)gGa>gAa	p.G819E	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	830						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G819*(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AACTGACAATCCTTCCACATC	0.353000														45			10		0	0	0.010729	0	0
PALB2	79728	broad.mit.edu	37	16	23640972	23640972	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:23640972A>G	uc002dlx.1	-	4	2703	c.2503T>C	c.(2503-2505)Tcc>Ccc	p.S835P		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	835					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TGTTCGACGGAATGTTTATGC	0.448000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks						65			14		0	0	0.004007	0	0
CSTF1	1477	broad.mit.edu	37	20	54972518	54972519	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:54972518_54972519CC>TT	uc002xxl.1	+	2	625_626	c.425_426CC>TT	c.(424-426)gcc>gTT	p.A142V	CSTF1_uc002xxm.1_Missense_Mutation_p.A142V|CSTF1_uc002xxn.1_Missense_Mutation_p.A142V	NM_001033521	NP_001315	Q05048	CSTF1_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa (CSTF1), transcript variant 1, mRNA.	142					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|protein binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			AGGATGTTGGCCAAAAGTGCCA	0.411000														46			28		0	0	0.004672	0	0
KIF18B	146909	broad.mit.edu	37	17	43009596	43009596	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:43009596G>A	uc010wji.2	-	9	1354	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L	KIF18B_uc002iht.3_Missense_Mutation_p.P418L|KIF18B_uc010wjh.2_Intron	NM_001080443	NP_001073912			Homo sapiens kinesin family member 18B (KIF18B), mRNA.											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GGGTGGCAAGGGGGAGCTGGG	0.667000														22			20		0	0	0.012319	0	0
HDAC3	8841	broad.mit.edu	37	5	141009672	141009672	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:141009672A>G	uc003llf.2	-	3	368	c.302T>C	c.(301-303)tTt>tCt	p.F101S	HDAC3_uc003lle.1_Missense_Mutation_p.F44S|HDAC3_uc010jgd.1_Intron|HDAC3_uc010jge.1_Intron	NM_003883	NP_003874	O15379	HDAC3_HUMAN	Homo sapiens histone deacetylase 3 (HDAC3), mRNA.	101	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of JNK cascade|negative regulation of cell cycle|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	GCAGAACTCAAAGAGCCCGGG	0.557000														52			45		0	0	0.014410	0	0
UNC5D	137970	broad.mit.edu	37	8	35648049	35648049	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:35648049G>A	uc003xjr.2	+	16	3158	c.2830G>A	c.(2830-2832)Gac>Aac	p.D944N	UNC5D_uc003xjs.2_Missense_Mutation_p.D939N|UNC5D_uc003xju.2_Missense_Mutation_p.D520N|UNC5D_uc022atw.1_5'Flank	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	944					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)		TGATGAAGCCGACTTCAACTA	0.498000														48			8		0	0	0.003080	0	0
PUM1	9698	broad.mit.edu	37	1	31438843	31438843	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:31438843C>T	uc001bsi.1	-	12	2185	c.2072G>A	c.(2071-2073)gGg>gAg	p.G691E	PUM1_uc001bsf.1_Missense_Mutation_p.G357E|PUM1_uc001bsh.1_Missense_Mutation_p.G691E|PUM1_uc001bsj.1_Missense_Mutation_p.G665E|PUM1_uc010oga.1_Missense_Mutation_p.G547E|PUM1_uc001bsk.1_Missense_Mutation_p.G727E|PUM1_uc010ogb.1_Missense_Mutation_p.G632E	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	691	Ser-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TGTTCCAAACCCTCCAAGGGC	0.493000														63			29		0	0	0.006320	0	0
OR8B2	26595	broad.mit.edu	37	11	124252876	124252876	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:124252876G>A	uc010sai.2	-	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		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)		GCCACATAGCGATCATATGCC	0.413000														10			15		0	0	0.002450	0	0
LNPEP	4012	broad.mit.edu	37	5	96320900	96320900	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:96320900C>T	uc003kmv.1	+	2	1491	c.977C>T	c.(976-978)aCc>aTc	p.T326I	LNPEP_uc003kmw.1_Missense_Mutation_p.T312I	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN	Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.	326					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GAGCAATACACCGCTTTATCA	0.378000														67			30		0	0	0.009535	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140784004	140784004	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140784004C>T	uc003lkh.2	+	0	1485	c.1485C>T	c.(1483-1485)acC>acT	p.T495T	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_uc011dax.2_Silent_p.T495T	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	497	Cadherin 5.				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)			CAGAGGATACCATCCAAGGGT	0.458000														36			27		0	0	0.004656	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140250440	140250440	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140250440G>A	uc003lia.2	+	0	2610	c.1752G>A	c.(1750-1752)gtG>gtA	p.V584V	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_Silent_p.V584V	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	598					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)			CGCGGTCGGTGGGTGCGGGCC	0.667000														98			24		0	0	0.003954	0	0
CCDC147	159686	broad.mit.edu	37	10	106214279	106214279	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:106214279G>A	uc001kyh.3	+	17	2744	c.2610G>A	c.(2608-2610)atG>atA	p.M870I		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	870										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CAACCAAAATGACGTTCTAAC	0.458000														63			20		0	0	0.007413	0	0
ZNF471	57573	broad.mit.edu	37	19	57029918	57029918	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:57029918G>A	uc002qnh.3	+	3	361	c.228G>A	c.(226-228)acG>acA	p.T76T		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	Homo sapiens zinc finger protein 471 (ZNF471), mRNA.	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GGGAGATGACGAGTGAGATGA	0.418000														26			15		0	0	0.006122	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465421	77465421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:77465421G>A	uc002ffc.4	-	2	685	c.266C>T	c.(265-267)tCg>tTg	p.S89L	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	89					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S89S(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATTCTGCGCCGATCGCTTTTT	0.478000														179			57		0	0	0.014410	0	0
CYP2C19	1557	broad.mit.edu	37	10	96448017	96448017	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:96448017T>G	uc001kjv.4	+	2	793	c.467T>G	c.(466-468)tTg>tGg	p.L156W	CYP2C19_uc001kjw.4_Missense_Mutation_p.L156W|CYP2C19_uc009xus.1_Missense_Mutation_p.L21W|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.	156					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)	GTGGAGGAGTTGAGAAAAACC	0.393000														85			22		0	0	0.002780	0	0
TGM6	343641	broad.mit.edu	37	20	2378637	2378637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:2378637C>T	uc002wfy.1	+	4	678	c.617C>T	c.(616-618)aCc>aTc	p.T206I	TGM6_uc010gal.1_Missense_Mutation_p.T206I	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	206					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AACCCAGCCACCGACGTGTCC	0.577000														40			15		0	0	0.004007	0	0
MUC16	94025	broad.mit.edu	37	19	9048771	9048771	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9048771A>G	uc002mkp.3	-	4	33064	c.32860T>C	c.(32860-32862)Ttt>Ctt	p.F10954L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10956	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						CCAAGAGAAAAAGTCAGAATT	0.483000														84			10		0	0	0.008291	0	0
COL8A2	1296	broad.mit.edu	37	1	36564376	36564376	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:36564376C>T	uc001bzv.2	-	1	913	c.906G>A	c.(904-906)ggG>ggA	p.G302G	COL8A2_uc001bzw.2_Silent_p.G237G	NM_005202	NP_005193	P25067	CO8A2_HUMAN	Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA.	302	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCCCCGGGTCCCTGGCTCCC	0.697000														14			14		0	0	0.003163	0	0
TNKS	8658	broad.mit.edu	37	8	9563713	9563713	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:9563713C>T	uc003wss.3	+	6	1224	c.1219C>T	c.(1219-1221)Cat>Tat	p.H407Y	TNKS_uc011kwv.1_Missense_Mutation_p.H407Y|TNKS_uc011kww.2_Missense_Mutation_p.H170Y	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	407					Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TGTGCCTCTTCATAATGCATG	0.279000														69			41		0	0	0.014410	0	0
PGK2	5232	broad.mit.edu	37	6	49754641	49754641	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:49754641G>A	uc003ozu.3	-	0	413	c.260C>T	c.(259-261)tCc>tTc	p.S87F		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	87					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.S87S(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GCCCAGCAAGGATTTGAGCTC	0.522000														89			48		0	0	0.014410	0	0
RB1CC1	9821	broad.mit.edu	37	8	53555124	53555124	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:53555124C>T	uc003xre.4	-	17	4682	c.4124G>A	c.(4123-4125)cGa>cAa	p.R1375Q	RB1CC1_uc003xrf.4_Missense_Mutation_p.R1375Q	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	1375					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CAAACGAGCTCGATCTTCAGA	0.368000														34			21		0	0	0.008871	0	0
PAX7	5081	broad.mit.edu	37	1	19029590	19029590	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:19029590G>A	uc001bay.3	+	6	1553	c.955G>A	c.(955-957)Ggg>Agg	p.G319R	PAX7_uc001baz.3_Missense_Mutation_p.G317R|PAX7_uc010oct.2_Missense_Mutation_p.G319R	NM_002584	NP_002575	P23759	PAX7_HUMAN	Homo sapiens paired box 7 (PAX7), transcript variant 1, mRNA.	319					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CTCTACAGATGGGGGCAGCAC	0.657000			T	FOXO1A	alveolar rhabdomyosarcoma									30			7		0	0	0.004482	0	0
TLL1	7092	broad.mit.edu	37	4	166913967	166913967	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:166913967G>A	uc003irh.2	+	2	939	c.292G>A	c.(292-294)Gac>Aac	p.D98N	TLL1_uc021xud.1_Missense_Mutation_p.D98N|TLL1_uc011cjn.2_Missense_Mutation_p.D98N|TLL1_uc011cjo.2_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	98					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)		TGGACTTGGAGACCATGCTAT	0.358000														49			24		0	0	0.004656	0	0
PRDM9	56979	broad.mit.edu	37	5	23526462	23526462	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:23526462G>A	uc003jgo.3	+	10	1447	c.1265G>A	c.(1264-1266)aGa>aAa	p.R422K		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	422					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						CCATCTGCAAGAAAACTCCTC	0.483000										HNSCC(3;0.000094)				67			36		0	0	0.006230	0	0
MYO7B	4648	broad.mit.edu	37	2	128351213	128351213	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:128351213C>T	uc002top.3	+	17	2291	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	746	IQ 1.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CAAAAATTTTCCTGAGGGTGA	0.607000														56			14		0	0	0.003163	0	0
OR4D11	219986	broad.mit.edu	37	11	59271968	59271968	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:59271968C>T	uc001noa.1	+	0	920	c.920C>T	c.(919-921)cCt>cTt	p.P307L		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P307L(2)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						AGACTCGTGCCTTCTGAAAGG	0.522000														21			11		0	0	0.010729	0	0
HHIP	64399	broad.mit.edu	37	4	145567837	145567837	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:145567837A>C	uc003ijs.2	+	0	690	c.10A>C	c.(10-12)Atg>Ctg	p.M4L	LOC646576_uc003ijq.2_5'Flank|HHIP_uc003ijr.2_Missense_Mutation_p.M4L	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	4						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GATGCTGAAGATGCTCTCCTT	0.627000											OREG0016346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		69			40		0	0	0.010771	0	0
PCNX	22990	broad.mit.edu	37	14	71444814	71444814	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:71444814C>T	uc001xmo.2	+	5	2206	c.1760C>T	c.(1759-1761)tCt>tTt	p.S587F	PCNX_uc001xmn.4_Missense_Mutation_p.S587F|PCNX_uc010are.1_Missense_Mutation_p.S587F	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	587						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CGAGGTGTTTCTGGTACCAAG	0.478000														75			37		0	0	0.005524	0	0
OR8B4	283162	broad.mit.edu	37	11	124294171	124294171	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:124294171G>A	uc010sak.2	-	0	597	c.597C>T	c.(595-597)ttC>ttT	p.F199F		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		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;0.0279)		CAACAACAATGAAAAATACCA	0.473000														6			6		0	0	0.001168	0	0
TBC1D2	55357	broad.mit.edu	37	9	100971310	100971310	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:100971310G>A	uc011lvb.2	-	8	1970	c.1790C>T	c.(1789-1791)gCt>gTt	p.A597V	TBC1D2_uc004ayp.3_Missense_Mutation_p.A137V|TBC1D2_uc004ayq.3_Missense_Mutation_p.A597V|TBC1D2_uc004ayr.3_Missense_Mutation_p.A379V	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	597						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CCGATCCACAGCCTCGAGGCC	0.647000														45			84		0	0	0.014410	0	0
MUC21	394263	broad.mit.edu	37	6	30954633	30954633	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:30954633C>A	uc003nsh.2	+	1	932	c.681C>A	c.(679-681)aaC>aaA	p.N227K	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.N211K	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	227	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGCCACCAACTCTGAGTCCA	0.627000														136			71		1.37693e-34	1.53892e-34	0.014410	1	0
XIRP1	165904	broad.mit.edu	37	3	39227331	39227331	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:39227331C>T	uc003cjk.2	-	1	3835	c.3606G>A	c.(3604-3606)atG>atA	p.M1202I	XIRP1_uc003cji.3_Intron|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.M1202I	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1202							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GCCCCCAGGCCATCTGTGTGC	0.687000														37			14		0	0	0.004007	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18573894	18573894	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:18573894C>T	uc001rdt.3	+	15	2328	c.2212C>T	c.(2212-2214)Cgt>Tgt	p.R738C	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.R779C|PIK3C2G_uc010sic.2_Missense_Mutation_p.R557C	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	738					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TCAAGAAATTCGTAAAGTGGC	0.363000														54			27		0	0	0.007291	0	0
THSD4	79875	broad.mit.edu	37	15	71534994	71534994	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:71534994G>A	uc002atb.1	+	3	550	c.471G>A	c.(469-471)agG>agA	p.R157R	THSD4_uc002atd.1_5'UTR	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	157	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTAGGAGCAGGACCCGTGGTA	0.517000														190			102		0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179593061	179593061	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179593061G>A	uc021vsy.1	-	63	15983	c.15758C>T	c.(15757-15759)tCt>tTt	p.S5253F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S1914F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6180	Ig-like 33.						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)			CATATGAATAGAAGAGCCCAG	0.368000														17			4		0	0	0.009096	0	0
UGT2B4	7363	broad.mit.edu	37	4	70359494	70359494	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:70359494C>T	uc003hek.4	-	1	834	c.787G>A	c.(787-789)Gat>Aat	p.D263N	UGT2B4_uc011cap.2_Missense_Mutation_p.D127N|UGT2B4_uc003hel.4_Missense_Mutation_p.D263N	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	263					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AATTGAAAATCCCAGTAGTTT	0.418000														56			31		0	0	0.007291	0	0
FNIP2	57600	broad.mit.edu	37	4	159782870	159782870	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:159782870C>T	uc003iqe.4	+	11	1590	c.1407C>T	c.(1405-1407)tcC>tcT	p.S469S		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	469					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		AACGTACCTCCCAGTCAGTGA	0.493000														103			50		0	0	0.014410	0	0
OR8D2	283160	broad.mit.edu	37	11	124189931	124189932	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:124189931_124189932GT>AA	uc010sah.2	-	0	162_163	c.162_163AC>TT	c.(160-165)caactt>caTTtt	p.54_55QL>HF		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		GGAGGGTAAAGTTGAGAACTGA	0.436000														20			34		0	0	0.004672	0	0
SLC13A1	6561	broad.mit.edu	37	7	122811947	122811947	+	Silent	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:122811947A>G	uc003vkm.3	-	2	265	c.240T>C	c.(238-240)gcT>gcC	p.A80A	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.	80						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)	CCTTGAAATAAGCAGATGCCA	0.333000														32			21		0	0	0.002780	0	0
NWD1	284434	broad.mit.edu	37	19	16860716	16860716	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:16860716C>T	uc002neu.4	+	5	1685	c.1263C>T	c.(1261-1263)ctC>ctT	p.L421L	NWD1_uc002net.4_Silent_p.L286L|NWD1_uc002nev.4_Silent_p.L215L|NWD1_uc021uqg.1_Silent_p.L286L	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	421	NACHT.						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						ATACCCTCCTCCACACTGTCT	0.607000														68			41		0	0	0.010771	0	0
C7	730	broad.mit.edu	37	5	40950039	40950039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:40950039C>T	uc003jmh.3	+	8	1130	c.1016C>T	c.(1015-1017)tCc>tTc	p.S339F	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	339	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AAATGTAAATCCTCAGGTTGG	0.348000														13			13		0	0	0.002450	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921781	78921781	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:78921781G>A	uc002bed.1	-	4	978	c.866C>T	c.(865-867)tCc>tTc	p.S289F	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.S107F	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	289					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						CACATCGAGGGAGGTGGGTGG	0.572000														47			30		0	0	0.010818	0	0
CSMD1	64478	broad.mit.edu	37	8	3063131	3063131	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:3063131C>T	uc022aqr.1	-	30	5269	c.4879G>A	c.(4879-4881)Ggc>Agc	p.G1627S	CSMD1_uc011kwj.2_Missense_Mutation_p.G1020S|CSMD1_uc003wqe.3_Missense_Mutation_p.G784S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1628	CUB 10.					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)		GTGTACTGGCCTCCACAGGGA	0.453000														7			8		0	0	0.003080	0	0
GRIN1	2902	broad.mit.edu	37	9	140040184	140040184	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:140040184C>T	uc004clk.3	+	2	730	c.400C>T	c.(400-402)Cac>Tac	p.H134Y	GRIN1_uc004cli.1_5'UTR|GRIN1_uc004clj.1_Missense_Mutation_p.H131Y|GRIN1_uc004cln.3_Missense_Mutation_p.H134Y|GRIN1_uc004clo.3_Missense_Mutation_p.H134Y|GRIN1_uc004clm.3_Missense_Mutation_p.H134Y|GRIN1_uc004cll.3_Missense_Mutation_p.H134Y	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 1 (GRIN1), transcript variant NR1-3, mRNA.	134					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GCAGAGCATCCACCTGAGCTT	0.692000														11			9		0	0	0.008291	0	0
SCGB1C1	147199	broad.mit.edu	37	11	193726	193726	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:193726G>A	uc001loa.1	+	1	90	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_145651	NP_663626	Q8TD33	SG1C1_HUMAN	Homo sapiens secretoglobin, family 1C, member 1 (SCGB1C1), mRNA.	24						extracellular region	binding			endometrium(1)|liver(2)|lung(1)|skin(1)	5		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGCCACAGGGGAGGACAACGA	0.577000														42			18		0	0	0.007413	0	0
GOLGA1	2800	broad.mit.edu	37	9	127650642	127650642	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:127650642G>A	uc004bpc.3	-	18	2137	c.1795C>T	c.(1795-1797)Cag>Tag	p.Q599*	GOLGA1_uc010mws.3_Non-coding_Transcript	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	Homo sapiens golgin A1 (GOLGA1), mRNA.	599						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GTTGGAAGCTGGAACACAGGG	0.547000														43			64		0	0	0.014410	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37442579	37442579	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:37442579G>A	uc021ppc.1	+	12	1718	c.1619G>A	c.(1618-1620)gGa>gAa	p.G540E	ANKRD30A_uc001iza.1_Missense_Mutation_p.G540E	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	596						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						AAAATAAATGGAAAATTAGAA	0.323000														179			13		0	0	0.013537	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290665	141290665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:141290665G>A	uc022cfj.1	-	0	1109	c.1109C>T	c.(1108-1110)tCc>tTc	p.S370F	MAGEC2_uc004fbu.2_Missense_Mutation_p.S370F	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	370						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGAAAAGGAGACGTTGCT	0.502000										HNSCC(46;0.14)				14			51		0	0	0.014410	0	0
SERPINA6	866	broad.mit.edu	37	14	94770800	94770800	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:94770800G>A	uc001ycv.3	-	4	1277	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	391					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TGCTCCAGGTGAAGTGGTCGA	0.547000														61			15		0	0	0.003163	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95442568	95442568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:95442568C>T	uc003uoc.4	+	3	561	c.284C>T	c.(283-285)cCt>cTt	p.P95L	DYNC1I1_uc003uod.4_Missense_Mutation_p.P78L|DYNC1I1_uc003uob.3_Missense_Mutation_p.P78L|DYNC1I1_uc003uoe.4_Missense_Mutation_p.P95L|DYNC1I1_uc010lfl.3_Missense_Mutation_p.P84L	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	95	Interaction with DCTN1 (By similarity).				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GTCCCAACCCCTATGTCTCCC	0.458000														47			30		0	0	0.007291	0	0
OR2M3	127062	broad.mit.edu	37	1	248366378	248366378	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:248366378G>A	uc010pzg.2	+	0	9	c.9G>A	c.(7-9)agG>agA	p.R3R		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	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;0.0245)			TCATGGCAAGGGAGAATTCGA	0.433000														129			70		0	0	0.014410	0	0
KDR	3791	broad.mit.edu	37	4	55968569	55968569	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:55968569G>A	uc003has.3	-	13	2396	c.2094C>T	c.(2092-2094)atC>atT	p.I698I	KDR_uc003hat.1_Silent_p.I698I	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	698	Ig-like C2-type 7.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TAAACCACATGATCTGTGGAG	0.458000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				70			37		0	0	0.006230	0	0
RTKN2	219790	broad.mit.edu	37	10	63983057	63983057	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:63983057G>A	uc001jlw.3	-	6	818	c.721C>T	c.(721-723)Cta>Tta	p.L241L	RTKN2_uc009xpf.1_Silent_p.L22L	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	Homo sapiens rhotekin 2 (RTKN2), mRNA.	241					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TCCAAGGTTAGGGTAGTGTGA	0.294000														91			17		0	0	0.008871	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806209	97806209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:97806209C>T	uc011bgs.2	+	0	193	c.193C>T	c.(193-195)Ctt>Ttt	p.L65F		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						GTACTTATTCCTTGGTGGTTT	0.433000														153			6		0	0	0.001984	0	0
TAS1R2	80834	broad.mit.edu	37	1	19181021	19181021	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:19181021C>T	uc001bba.1	-	2	944	c.943G>A	c.(943-945)Gag>Aag	p.E315K		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	315					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGGCGCAGCTCCGTGAGGTTG	0.657000														34			19		0	0	0.007413	0	0
KLHL7	55975	broad.mit.edu	37	7	23164672	23164672	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:23164672C>T	uc003svs.4	+	3	616	c.323C>T	c.(322-324)tCc>tTc	p.S108F	KLHL7_uc003svr.4_Missense_Mutation_p.S86F|KLHL7_uc011jys.2_Missense_Mutation_p.S32F|KLHL7_uc011jyt.2_Intron|KLHL7_uc003svt.3_Missense_Mutation_p.S60F|KLHL7_uc003svp.3_Missense_Mutation_p.S86F|KLHL7_uc003svq.3_Missense_Mutation_p.S108F|KLHL7_uc011jyu.2_Missense_Mutation_p.S86F	NM_001031710	NP_061334	Q8IXQ5	KLHL7_HUMAN	Homo sapiens kelch-like 7 (Drosophila) (KLHL7), transcript variant 1, mRNA.	108	BTB.					Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGCAGAATTTCCGTGAATAGC	0.323000														31			20		0	0	0.010504	0	0
WBSCR17	64409	broad.mit.edu	37	7	70597851	70597851	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:70597851C>T	uc003tvy.3	+	0	63	c.63C>T	c.(61-63)ttC>ttT	p.F21F		NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	21						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)				TAGCCGGCTTCGTGCTCTTCC	0.672000														22			9		0	0	0.004482	0	0
PDZD8	118987	broad.mit.edu	37	10	119044086	119044086	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:119044086G>A	uc001lde.1	-	4	2357	c.2158C>T	c.(2158-2160)Cct>Tct	p.P720S		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	720					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		AACTTGAAAGGATCCCTGCAC	0.423000														48			16		0	0	0.004007	0	0
SLC29A4	222962	broad.mit.edu	37	7	5338733	5338733	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:5338733C>T	uc003sod.3	+	7	1158	c.997C>T	c.(997-999)Cag>Tag	p.Q333*	SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Nonsense_Mutation_p.Q333*|SLC29A4_uc003soe.3_Nonsense_Mutation_p.Q319*	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	333					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GCCAAGGGTCCAGCGCAGCTG	0.721000														9			9		0	0	0.004482	0	0
KIAA0930	23313	broad.mit.edu	37	22	45595851	45595851	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:45595851G>A	uc003bfv.1	-	6	1131	c.945C>T	c.(943-945)tcC>tcT	p.S315S	KIAA0930_uc003bfx.1_Silent_p.S306S|KIAA0930_uc010gzw.1_Silent_p.S158S|KIAA0930_uc003bfw.1_Silent_p.S311S|KIAA0930_uc010gzx.2_Silent_p.S288S	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN	Homo sapiens KIAA0930 (KIAA0930), transcript variant 2, mRNA.	306							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TCCTCTTGAGGGATGGGGAGA	0.612000														40			17		0	0	0.004990	0	0
HEATR2	54919	broad.mit.edu	37	7	819751	819751	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:819751C>G	uc010krz.1	+	11	2421	c.2401C>G	c.(2401-2403)Cca>Gca	p.P801A	HEATR2_uc003siz.2_Missense_Mutation_p.P669A|HEATR2_uc003sjb.2_Missense_Mutation_p.P181A|HEATR2_uc003sjc.2_Missense_Mutation_p.P226A	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	801							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CCTTGACGATCCAGAGAGGGC	0.567000														26			19		0	0	0.012319	0	0
CNDP1	84735	broad.mit.edu	37	18	72234659	72234659	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:72234659C>T	uc002llq.3	+	5	958	c.747C>T	c.(745-747)ttC>ttT	p.F249F	CNDP1_uc002lls.3_Silent_p.F52F	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.	249					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		ACAGCTACTTCATGGTGGAGG	0.502000														47			9		0	0	0.006214	0	0
NOTCH4	4855	broad.mit.edu	37	6	32190850	32190850	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:32190850C>T	uc003obb.3	-	1	226	c.87G>A	c.(85-87)ggG>ggA	p.G29G	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Silent_p.G29G	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	29	EGF-like 1.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTGGGAAACTCCCACACAGCA	0.617000														158			86		0	0	0.014410	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20852565	20852565	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:20852565C>T	uc010sii.2	+	2	410	c.55C>T	c.(55-57)Cct>Tct	p.P19S	SLCO1C1_uc010sij.2_Missense_Mutation_p.P19S|SLCO1C1_uc009zip.3_5'UTR|SLCO1C1_uc001rei.3_Missense_Mutation_p.P19S|SLCO1C1_uc010sik.2_Intron	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	19					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TTCAGTGCAACCTGTTGGAAG	0.373000														30			13		0	0	0.001855	0	0
HIVEP2	3097	broad.mit.edu	37	6	143092491	143092491	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:143092491G>A	uc003qjd.3	-	4	4128	c.3385C>T	c.(3385-3387)Cct>Tct	p.P1129S		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGCTGAAGAGGAGGCAGCACA	0.657000														47			24		0	0	0.014323	0	0
STAC	6769	broad.mit.edu	37	3	36422186	36422186	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:36422186G>A	uc003cgh.1	+	0	90	c.51G>A	c.(49-51)aaG>aaA	p.K17K	STAC_uc010hgd.1_Non-coding_Transcript|STAC_uc011aya.1_Silent_p.K17K	NM_003149	NP_003140	Q99469	STAC_HUMAN	Homo sapiens SH3 and cysteine rich domain (STAC), mRNA.	17					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GGCTGCCCAAGGAGGCGGTGG	0.677000														12			13		0	0	0.004007	0	0
CCDC89	220388	broad.mit.edu	37	11	85396406	85396406	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:85396406G>A	uc001pau.1	-	0	915	c.768C>T	c.(766-768)agC>agT	p.S256S		NM_152723	NP_689936	Q8N998	CCD89_HUMAN	Homo sapiens coiled-coil domain containing 89 (CCDC89), mRNA.	256						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CCTGGCTCAGGCTGCTGTGTG	0.577000														12			24		0	0	0.014323	0	0
ZNF300P1	134466	broad.mit.edu	37	5	150322137	150322137	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:150322137C>T	uc003lsz.1	-	1	266	c.117G>A	c.(115-117)gaG>gaA	p.E39E	ZNF300P1_uc003ltb.3_Non-coding_Transcript|ZNF300P1_uc003lta.2_Non-coding_Transcript					Homo sapiens zinc finger protein 300 pseudogene 1 (ZNF300P1), non-coding RNA.																		GGCTATAGATCTCCAGCATCA	0.522000														32			10		0	0	0.008291	0	0
CDK3	1018	broad.mit.edu	37	17	73998186	73998186	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:73998186C>T	uc002jqg.4	+	5	2114	c.362C>T	c.(361-363)tCc>tTc	p.S121F	CDK3_uc010dgt.3_Missense_Mutation_p.S93F	NM_001258	NP_001249	Q00526	CDK3_HUMAN	Homo sapiens cyclin-dependent kinase 3 (CDK3), mRNA.	93	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						TACATGGACTCCACCCCAGGC	0.587000														56			19		0	0	0.008871	0	0
CLEC4D	338339	broad.mit.edu	37	12	8671664	8671664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	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														34			19		0	0	0.007413	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5242225	5242225	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:5242225G>A	uc003jdl.3	+	16	2721	c.2583G>A	c.(2581-2583)ggG>ggA	p.G861G	ADAMTS16_uc003jdk.1_Silent_p.G861G	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	861	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CTCGCTTGGGGACCGAGAAGC	0.562000														54			34		0	0	0.004878	0	0
PKLR	5313	broad.mit.edu	37	1	155264092	155264092	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:155264092G>A	uc001fkb.4	-	6	1089	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F	PKLR_uc001fka.4_Silent_p.F319F	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	350					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	TCTGAGCCAGGAAAACCTTCT	0.572000														47			9		0	0	0.004482	0	0
SEPHS1	22929	broad.mit.edu	37	10	13380726	13380726	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:13380726G>A	uc001imk.3	-	2	653	c.276C>T	c.(274-276)atC>atT	p.I92I	SEPHS1_uc001imh.3_5'Flank|SEPHS1_uc010qbs.2_Silent_p.I44I|SEPHS1_uc010qbt.2_Silent_p.I25I|SEPHS1_uc021pnc.1_Silent_p.I92I|SEPHS1_uc021pnd.1_Silent_p.I92I|SEPHS1_uc009xje.3_Silent_p.I92I	NM_012247	NP_001182531	P49903	SPS1_HUMAN	Homo sapiens selenophosphate synthetase 1 (SEPHS1), transcript variant 1, mRNA.	92					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						GGTCGTCTACGATCGGGTAAA	0.463000														92			23		0	0	0.002780	0	0
SLC7A9	11136	broad.mit.edu	37	19	33355115	33355115	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:33355115G>A	uc002ntv.4	-	3	482	c.365C>T	c.(364-366)cCc>cTc	p.P122L	SLC7A9_uc002ntt.4_Non-coding_Transcript|SLC7A9_uc002ntu.4_Missense_Mutation_p.P122L|SLC7A9_uc021usa.1_Missense_Mutation_p.P122L|SLC7A9_uc002ntw.4_5'UTR	NM_001126335	NP_055085	P82251	BAT1_HUMAN	Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA.	122					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GAAGGACGTGGGCTTAATGAC	0.577000														37			17		0	0	0.008871	0	0
CMYA5	202333	broad.mit.edu	37	5	79033728	79033728	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:79033728C>T	uc003kgc.3	+	1	9212	c.9140C>T	c.(9139-9141)cCc>cTc	p.P3047L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3047						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)		CCCACAATTCCCAGTGAAGAG	0.328000														48			29		0	0	0.007291	0	0
MUC16	94025	broad.mit.edu	37	19	9061789	9061789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9061789G>A	uc002mkp.3	-	2	25861	c.25657C>T	c.(25657-25659)Ccc>Tcc	p.P8553S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8555	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						TCCACAGAGGGAAGGCTCGGC	0.507000														33			7		0	0	0.001984	0	0
OR5F1	338674	broad.mit.edu	37	11	55761697	55761697	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:55761697G>A	uc010riv.2	-	0	405	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TCCTGGACATGATCAAGGAGT	0.507000														28			19		0	0	0.007413	0	0
ATL2	64225	broad.mit.edu	37	2	38527436	38527436	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:38527436G>A	uc002rqq.3	-	9	1136	c.1106C>T	c.(1105-1107)cCa>cTa	p.P369L	ATL2_uc010ynm.2_Missense_Mutation_p.P351L|ATL2_uc010ynn.2_Missense_Mutation_p.P351L|ATL2_uc010yno.2_Missense_Mutation_p.P198L|ATL2_uc002rqr.3_Missense_Mutation_p.P198L|ATL2_uc002rqs.3_Missense_Mutation_p.P369L	NM_001135673	NP_001129145	Q8NHH9	ATLA2_HUMAN	Homo sapiens atlastin GTPase 2 (ATL2), transcript variant 2, mRNA.	369					Golgi organization|endoplasmic reticulum organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						CTTTGGATGTGGAAGTTCTTC	0.373000														36			16		0	0	0.006122	0	0
MYH4	4622	broad.mit.edu	37	17	10348361	10348361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:10348361G>A	uc002gmn.3	-	36	5509	c.5398C>T	c.(5398-5400)Cgt>Tgt	p.R1800C	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1800					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCATCCAGACGGAGCTGCAGA	0.562000														39			52		0	0	0.014410	0	0
VPS13B	157680	broad.mit.edu	37	8	100454726	100454726	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:100454726G>A	uc003yiv.3	+	22	3419	c.3308G>A	c.(3307-3309)tGg>tAg	p.W1103*	VPS13B_uc003yiw.3_Nonsense_Mutation_p.W1103*|VPS13B_uc003yiu.1_Nonsense_Mutation_p.W1103*|VPS13B_uc003yix.1_Nonsense_Mutation_p.W573*	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1103					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTAAGAAGTTGGTACCATGGA	0.433000														44			27		0	0	0.003954	0	0
ATP13A4	84239	broad.mit.edu	37	3	193232575	193232575	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:193232575A>T	uc003ftd.3	-	1	254	c.146T>A	c.(145-147)gTg>gAg	p.V49E	ATP13A4_uc003fte.1_Missense_Mutation_p.V49E|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	49					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)		CCAGTAAAACACCAAGGGGAG	0.502000														60			22		0	0	0.014323	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651372	1651372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:1651372C>T	uc001lty.3	+	0	340	c.302C>T	c.(301-303)tCc>tTc	p.S101F	MOB2_uc001ltq.2_Intron	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.	101	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGCTGTGTCTCCTGTGGGGTG	0.677000														108			81		0	0	0.014410	0	0
BUD13	84811	broad.mit.edu	37	11	116633647	116633647	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:116633647G>A	uc001ppn.3	-	3	692	c.658C>T	c.(658-660)Cat>Tat	p.H220Y	BUD13_uc001ppo.3_Intron|BUD13_uc009yzc.3_Missense_Mutation_p.H220Y	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA.	220	Arg-rich.							p.H220R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GGTGAATCATGACGGACTCTC	0.547000														150			249		0	0	0.014410	0	0
KCND3	3752	broad.mit.edu	37	1	112525046	112525046	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:112525046C>T	uc001ebu.1	-	1	783	c.303G>A	c.(301-303)ggG>ggA	p.G101G	KCND3_uc001ebv.1_Silent_p.G101G	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	101						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)		AGTGCAGCTTCCCCGTGCGGT	0.607000														16			25		0	0	0.006320	0	0
CSF1R	1436	broad.mit.edu	37	5	149456941	149456941	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:149456941G>A	uc003lrl.3	-	4	982	c.787C>T	c.(787-789)Ctc>Ttc	p.L263F	CSF1R_uc011dcd.2_Missense_Mutation_p.L115F|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Missense_Mutation_p.L263F|CSF1R_uc011dce.1_Missense_Mutation_p.L263F|CSF1R_uc011dcf.2_Missense_Mutation_p.L263F	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	263	Ig-like C2-type 3.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TCGAGGTTGAGGGTCAGGACT	0.498000														53			39		0	0	0.009718	0	0
HEXB	3074	broad.mit.edu	37	5	74012481	74012481	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:74012481A>T	uc003kdf.4	+	8	1269	c.1152A>T	c.(1150-1152)gaA>gaT	p.E384D	HEXB_uc003kdd.3_Missense_Mutation_p.E159D|HEXB_uc003kdg.1_5'Flank|HEXB_uc010izi.1_5'Flank	NM_000521	NP_000512	P07686	HEXB_HUMAN	Homo sapiens hexosaminidase B (beta polypeptide) (HEXB), mRNA.	384					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		AGAAACTAGAATCTTTCTACA	0.269000														32			11		0	0	0.002450	0	0
CAPSL	133690	broad.mit.edu	37	5	35910596	35910596	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:35910596C>T	uc003jjt.1	-	2	282	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	CAPSL_uc003jju.1_Missense_Mutation_p.E63K	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	63	EF-hand 1.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TTCATAAATTCTTTAAAATCA	0.323000														51			19		0	0	0.012319	0	0
USP9Y	8287	broad.mit.edu	37	Y	14954236	14954236	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrY:14954236T>A	uc004fst.1	+	37	7228	c.6283T>A	c.(6283-6285)Ttt>Att	p.F2095I	USP9Y_uc010nwu.1_Non-coding_Transcript	NM_004654	NP_004645	O00507	USP9Y_HUMAN	Homo sapiens ubiquitin specific peptidase 9, Y-linked (USP9Y), mRNA.	2095					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TAATGTCCTTTTTAATGTATC	0.383000														18			39		0	0	0.008740	0	0
TP53BP1	7158	broad.mit.edu	37	15	43705379	43705380	+	Missense_Mutation	DNP	TC	GA	GA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:43705379_43705380TC>GA	uc001zrs.3	-	23	5375_5376	c.5227_5228GA>TC	c.(5227-5229)gac>TCc	p.D1743S	TP53BP1_uc010udp.2_Missense_Mutation_p.D1741S|TP53BP1_uc001zrq.4_Missense_Mutation_p.D1746S|TP53BP1_uc001zrr.4_Missense_Mutation_p.D1748S|TP53BP1_uc001zrp.3_Missense_Mutation_p.D160S	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	1743	BRCT 1.				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGCCAACTTGTCACTGGTTGTG	0.554000								Other conserved DNA damage response genes						45			20		0	0	0.004672	0	0
REXO1L1	254958	broad.mit.edu	37	8	86573843	86573843	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:86573843C>T	uc022axf.1	-	0	1884	c.1884G>A	c.(1882-1884)caG>caA	p.Q628Q		NM_172239	NP_758439	Q8IX06	GOR_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA.	628						cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						CCTGGATGATCTGTGCCAGGT	0.647000														71			4		0	0	0.009096	0	0
CDC40	51362	broad.mit.edu	37	6	110514442	110514442	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:110514442C>T	uc003pua.3	+	1	308	c.247C>T	c.(247-249)Cct>Tct	p.P83S		NM_015891	NP_056975	O60508	PRP17_HUMAN	Homo sapiens cell division cycle 40 homolog (S. cerevisiae) (CDC40), mRNA.	83					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		TCAGTATAATCCTACCTATGA	0.348000														49			19		0	0	0.012319	0	0
STAB2	55576	broad.mit.edu	37	12	104046444	104046444	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:104046444C>T	uc001tjw.3	+	11	1554	c.1368C>T	c.(1366-1368)acC>acT	p.T456T		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	456	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGTTCTACACCTTGACTGGAA	0.398000														35			13		0	0	0.004007	0	0
OR8H3	390152	broad.mit.edu	37	11	55890323	55890323	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:55890323A>C	uc001nii.1	+	0	475	c.475A>C	c.(475-477)Aat>Cat	p.N159H		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CTCCTTTGTCAATGTGGTTTC	0.443000														87			62		0	0	0.014410	0	0
PKD1	5310	broad.mit.edu	37	16	2162886	2162886	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:2162886G>A	uc002cos.1	-	12	3273	c.3064C>T	c.(3064-3066)Ctg>Ttg	p.L1022L	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.L1022L	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	1022					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GAGACCTGCAGACCCTGCATC	0.642000														31			11		0	0	0.010729	0	0
UBA1	7317	broad.mit.edu	37	X	47065792	47065792	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:47065792C>T	uc004dhj.4	+	15	2038	c.1887C>T	c.(1885-1887)atC>atT	p.I629I	UBA1_uc004dhk.4_Silent_p.I629I|UBA1_uc004dhm.3_5'Flank	NM_153280	NP_695012	P22314	UBA1_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 1 (UBA1), transcript variant 2, mRNA.	629					cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGAAGTCCATCCCCATCTGTA	0.572000														8			23		0	0	0.006320	0	0
SCNN1B	6338	broad.mit.edu	37	16	23364349	23364349	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:23364349C>T	uc002dln.3	+	2	715	c.539C>T	c.(538-540)tCa>tTa	p.S180L		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	180					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	AGCTCAGCATCAGAAAAGATC	0.522000														75			22		0	0	0.003330	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140750458	140750458	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140750458C>T	uc003ljw.2	+	0	497	c.497C>T	c.(496-498)tCg>tTg	p.S166L	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_uc011dat.2_Missense_Mutation_p.S166L	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	166	Cadherin 2.				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)			GGTGTCAATTCGCTGCAGCAG	0.502000														186			48		0	0	0.014410	0	0
TRIM13	10206	broad.mit.edu	37	13	50586631	50586631	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:50586631T>A	uc001vdp.1	+	3	982	c.564T>A	c.(562-564)ttT>ttA	p.F188L	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.3_5'Flank|KCNRG_uc001vdu.3_5'Flank|TRIM13_uc001vdq.1_Missense_Mutation_p.F185L|TRIM13_uc001vdr.1_Missense_Mutation_p.F185L|TRIM13_uc001vds.1_Missense_Mutation_p.F185L|TRIM13_uc021rjq.1_Missense_Mutation_p.F185L	NM_001007278	NP_998755	O60858	TRI13_HUMAN	Homo sapiens tripartite motif containing 13 (TRIM13), transcript variant 4, mRNA.	185					ER-associated protein catabolic process|anatomical structure morphogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		TGAAGGAATTTTTTGAGAAGT	0.403000														21			8		0	0	0.004482	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033208	52033208	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:52033208G>A	uc002pwy.3	-	4	990	c.782C>T	c.(781-783)tCc>tTc	p.S261F	SIGLEC6_uc002pwz.3_Missense_Mutation_p.S245F|SIGLEC6_uc010ydb.2_Missense_Mutation_p.S209F|SIGLEC6_uc010ydc.2_Missense_Mutation_p.S272F|SIGLEC6_uc002pxa.3_Missense_Mutation_p.S261F|SIGLEC6_uc010eoz.2_Missense_Mutation_p.S250F|SIGLEC6_uc010epa.2_Missense_Mutation_p.S250F|SIGLEC6_uc010epb.2_Missense_Mutation_p.S214F	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	261	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		p.F260F(1)		endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GACAGGGAGGGACGAGGTGTT	0.602000														66			65		0	0	0.014410	0	0
FAM5B	57795	broad.mit.edu	37	1	177249703	177249703	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:177249703C>T	uc001glf.3	+	7	1703	c.1391C>T	c.(1390-1392)cCc>cTc	p.P464L	FAM5B_uc001glg.3_Missense_Mutation_p.P359L	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	464						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GGCGAAGGGCCCGCGTGTGCC	0.647000														20			12		0	0	0.013537	0	0
FBN1	2200	broad.mit.edu	37	15	48802295	48802295	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:48802295G>A	uc001zwx.2	-	13	2055	c.1660C>T	c.(1660-1662)Cat>Tat	p.H554Y		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	554	EGF-like 8; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.H554N(2)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CACACGCAATGAAAACTGCCA	0.383000														34			7		0	0	0.001984	0	0
ARMC4	55130	broad.mit.edu	37	10	28273212	28273212	+	Missense_Mutation	SNP	T	C	C	rs138425193	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:28273212T>C	uc009xky.3	-	4	681	c.583A>G	c.(583-585)Agt>Ggt	p.S195G	ARMC4_uc010qds.2_5'Flank|ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Missense_Mutation_p.S195G|ARMC4_uc010qdu.1_5'Flank	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	195							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GGACTTAAACTTATTTCTCTG	0.328000														74			28		0	0	0.008361	0	0
OR2T33	391195	broad.mit.edu	37	1	248437021	248437021	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:248437021G>A	uc010pzi.2	-	0	96	c.96C>T	c.(94-96)atC>atT	p.I32I		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGGTCAAAACGATACTCAGAA	0.478000														66			4		0	0	0.004482	0	0
AHCYL2	23382	broad.mit.edu	37	7	129066334	129066334	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:129066334G>A	uc011kov.2	+	15	1822	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K	AHCYL2_uc003vot.3_Missense_Mutation_p.E586K|AHCYL2_uc003vov.3_Missense_Mutation_p.E484K|AHCYL2_uc011kox.2_Missense_Mutation_p.E484K	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	Homo sapiens adenosylhomocysteinase-like 2 (AHCYL2), transcript variant 1, mRNA.	587					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						CCACTTGACAGAGCTGACAGA	0.502000														61			34		0	0	0.010818	0	0
MUC16	94025	broad.mit.edu	37	19	9074883	9074883	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9074883G>A	uc002mkp.3	-	2	12767	c.12563C>T	c.(12562-12564)cCt>cTt	p.P4188L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4190	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						TGAGGTCACAGGTGGAGTAGA	0.502000														71			35		0	0	0.003271	0	0
POTEG	404785	broad.mit.edu	37	14	19553734	19553734	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:19553734C>T	uc001vuz.1	+	0	370	c.318C>T	c.(316-318)ttC>ttT	p.F106F	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	106										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCCACTGCTTCCCCTGCTGCA	0.607000														295			53		0	0	0.014410	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169104	50169104	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:50169104C>T	uc002ppa.3	+	0	706	c.24C>T	c.(22-24)ttC>ttT	p.F8F	IRF3_uc002poy.2_5'UTR|IRF3_uc021uxp.1_5'UTR|IRF3_uc021uxq.1_5'UTR|IRF3_uc002pot.2_5'UTR|IRF3_uc021uxr.1_5'UTR|IRF3_uc021uxs.1_5'UTR|IRF3_uc002pow.3_5'UTR|IRF3_uc021uxo.1_5'UTR|IRF3_uc002pou.3_5'UTR|IRF3_uc010end.2_5'UTR|IRF3_uc002poz.1_5'UTR|IRF3_uc010ene.1_5'Flank|BCL2L12_uc002ppb.3_Silent_p.F8F	NM_138639	NP_619580	Q9HB09	B2L12_HUMAN	Homo sapiens BCL2-like 12 (proline rich) (BCL2L12), transcript variant 1, mRNA.	8					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CTGGGCTGTTCCCGCCCCTAT	0.542000														63			39		0	0	0.013114	0	0
DNAAF1	123872	broad.mit.edu	37	16	84193376	84193376	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:84193376G>A	uc002fhl.4	+	5	1019	c.838G>A	c.(838-840)Gat>Aat	p.D280N	DNAAF1_uc010chi.1_Non-coding_Transcript|DNAAF1_uc010vnw.2_Missense_Mutation_p.D28N	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.	280	LRRCT.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						ATACCTGGATGATAGACCAGT	0.368000														36			9		0	0	0.010729	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237582	30237582	+	Silent	SNP	A	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:30237582A>T	uc022buf.1	+	0	885	c.885A>T	c.(883-885)gtA>gtT	p.V295V	MAGEB2_uc004dbz.3_Silent_p.V295V	NM_002364	NP_002355	O15479	MAGB2_HUMAN	Homo sapiens melanoma antigen family B, 2 (MAGEB2), mRNA.	295	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TGGCCAAGGTAAATGGTACCA	0.527000														5			14		0	0	0.001855	0	0
SERPINB12	89777	broad.mit.edu	37	18	61233848	61233848	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:61233848G>A	uc010xeo.2	+	6	882	c.882G>A	c.(880-882)agG>agA	p.R294R	SERPINB12_uc010xen.2_Silent_p.R274R	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	274					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AGCTTGAAAGGAAAATCACCT	0.463000														78			48		0	0	0.014410	0	0
AP2S1	1175	broad.mit.edu	37	19	47342728	47342728	+	Silent	SNP	G	A	A	rs151335841	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:47342728G>A	uc002pft.1	-	2	441	c.261C>T	c.(259-261)ttC>ttT	p.F87F	AP2S1_uc002pfu.1_Intron	NM_004069	NP_004060	P53680	AP2S1_HUMAN	Homo sapiens adaptor-related protein complex 2, sigma 1 subunit (AP2S1), transcript variant AP17, mRNA.	87					axon guidance|clathrin coat assembly|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|regulation of endocytosis|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	protein transporter activity			central_nervous_system(1)|lung(1)|urinary_tract(1)	3		all_cancers(25;1.24e-06)|all_epithelial(76;1.09e-05)|all_lung(116;0.00019)|Lung NSC(112;0.000601)|Ovarian(192;0.0221)|all_neural(266;0.0459)|Breast(70;0.128)		OV - Ovarian serous cystadenocarcinoma(262;3.86e-05)|all cancers(93;0.000107)|Epithelial(262;0.00325)|GBM - Glioblastoma multiforme(486;0.0336)		GTACCTCCACGAAGTTGTGAA	0.592000														95			53		0	0	0.014410	0	0
SHANK1	50944	broad.mit.edu	37	19	51219589	51219589	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:51219589C>T	uc002psx.1	-	1	421	c.402G>A	c.(400-402)gaG>gaA	p.E134E		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	134					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCAGCCTCTCCTCCTCCAGGA	0.612000														65			19		0	0	0.006122	0	0
KAT7	11143	broad.mit.edu	37	17	47893179	47893179	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:47893179C>T	uc002ipm.3	+	7	1083	c.867C>T	c.(865-867)acC>acT	p.T289T	KAT7_uc002ipl.2_Silent_p.T259T|KAT7_uc010wma.2_Silent_p.T150T|KAT7_uc010wmb.2_Silent_p.T179T|KAT7_uc010wmc.2_Silent_p.T120T|KAT7_uc010wmd.2_Silent_p.T133T|KAT7_uc010wme.2_Silent_p.T103T|KAT7_uc010wmf.2_5'UTR|KAT7_uc010wmg.2_5'UTR	NM_007067	NP_008998	O95251	MYST2_HUMAN	Homo sapiens K(lysine) acetyltransferase 7 (KAT7), transcript variant 1, mRNA.	289					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										ACAGACAGACCTATGGGAACA	0.428000														72			36		0	0	0.003755	0	0
PSPH	5723	broad.mit.edu	37	7	56085030	56085030	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:56085030G>A	uc003trj.3	-	3	720	c.405C>T	c.(403-405)ttC>ttT	p.F135F	PSPH_uc003trh.3_Silent_p.F106F|PSPH_uc003tri.3_Silent_p.F106F	NM_004577	NP_004568	P78330	SERB_HUMAN	Homo sapiens phosphoserine phosphatase (PSPH), mRNA.	106					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGATATTAGGAAAACCTGAA	0.363000														21			9		0	0	0.004482	0	0
ADRBK1	156	broad.mit.edu	37	11	67052417	67052417	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:67052417C>T	uc009yrn.1	+	18	2020	c.1754C>T	c.(1753-1755)cCc>cTc	p.P585L		NM_001619	NP_001610	P25098	ARBK1_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 1 (ADRBK1), mRNA.	585	PH.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	ATP binding|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|alpha-2A adrenergic receptor binding|beta-adrenergic receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TACCTGTTCCCCAACCGCCTC	0.687000														10			8		0	0	0.008291	0	0
TACR3	6870	broad.mit.edu	37	4	104577409	104577409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:104577409C>T	uc003hxe.1	-	2	971	c.830G>A	c.(829-831)gGa>gAa	p.G277E		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	277						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TGGGATTTCTCCTCCCCAGAG	0.398000														87			44		0	0	0.013114	0	0
KIF26A	26153	broad.mit.edu	37	14	104643552	104643552	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:104643552C>T	uc001yos.4	+	11	4427	c.4427C>T	c.(4426-4428)cCa>cTa	p.P1476L		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	1476					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		ACACACGGTCCAGCTCCCGCC	0.736000														10			8		0	0	0.004482	0	0
KRT222	125113	broad.mit.edu	37	17	38812820	38812820	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:38812820C>T	uc002hvc.2	-	5	787	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	KRT222_uc002hvb.2_Missense_Mutation_p.R201Q	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	Homo sapiens keratin 222 (KRT222), mRNA.	241						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TTTCCTCAATCGAGGGTTATC	0.338000														48			27		0	0	0.007291	0	0
ABCC6	368	broad.mit.edu	37	16	16297280	16297281	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:16297280_16297281GG>AA	uc002den.4	-	7	1021_1022	c.984_985CC>TT	c.(982-987)gtcccc>gtTTcc	p.P329S	ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Missense_Mutation_p.P341S	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	329	ABC transmembrane type-1 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)		AGCAGCTTGGGGACAGTGAACC	0.594000														65			21		0	0	0.004672	0	0
LPA	4018	broad.mit.edu	37	6	161020616	161020616	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:161020616G>A	uc003qtl.3	-	20	3323	c.3203C>T	c.(3202-3204)aCc>aTc	p.T1068I		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3576	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGTGACAGTGGTGGAGTATGT	0.478000														218			133		0	0	0.014410	0	0
MPO	4353	broad.mit.edu	37	17	56349253	56349253	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:56349253C>T	uc002ivu.1	-	11	1970	c.1793_splice	c.e11-1	p.G598_splice		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	598					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GGCATTGTATCCTGCATGGGG	0.597000														71			39		0	0	0.006999	0	0
TULP1	7287	broad.mit.edu	37	6	35473911	35473911	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:35473911C>T	uc003okv.4	-	9	880	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	TULP1_uc003okw.4_Missense_Mutation_p.E237K|TULP1_uc021yyx.1_Missense_Mutation_p.E290K|TULP1_uc021yyy.1_Missense_Mutation_p.E289K	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	290					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TCCCGGGGTTCGTCCACCTCC	0.697000														39			20		0	0	0.002780	0	0
KLHL6	89857	broad.mit.edu	37	3	183210292	183210292	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:183210292G>A	uc003flr.3	-	5	1612	c.1554C>T	c.(1552-1554)atC>atT	p.I518I	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_Non-coding_Transcript	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	518			I -> V (in dbSNP:rs35354575).							breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CAACGACATAGATGCGGTCCC	0.527000														40			18		0	0	0.002780	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140755656	140755656	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140755656C>T	uc003ljy.2	+	0	2006	c.2006C>T	c.(2005-2007)cCc>cTc	p.P669L	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_uc011dau.2_Missense_Mutation_p.P669L	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	671	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)			GACAGGATCCCCGACATCCTG	0.692000														32			28		0	0	0.008740	0	0
SLC4A4	8671	broad.mit.edu	37	4	72400022	72400022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:72400022C>T	uc010iic.3	+	17	2476	c.2359C>T	c.(2359-2361)Ccg>Tcg	p.P787S	SLC4A4_uc003hfy.3_Missense_Mutation_p.P787S|SLC4A4_uc010iib.3_Missense_Mutation_p.P787S|SLC4A4_uc003hfz.3_Missense_Mutation_p.P787S|SLC4A4_uc003hgc.4_Missense_Mutation_p.P743S|SLC4A4_uc010iid.3_5'UTR	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	787						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TGCTGCTATCCCGGCTTTGTT	0.433000														53			6		0	0	0.001168	0	0
DPP6	1804	broad.mit.edu	37	7	154667731	154667731	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:154667731T>C	uc003wlk.3	+	19	2128	c.1999T>C	c.(1999-2001)Ttc>Ctc	p.F667L	DPP6_uc003wli.3_Missense_Mutation_p.F603L|DPP6_uc003wlm.3_Missense_Mutation_p.F605L|DPP6_uc011kvq.2_Missense_Mutation_p.F560L	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	667					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TGGCAGCGGCTTCCAAGGGAC	0.657000														17			14		0	0	0.001855	0	0
TTLL2	83887	broad.mit.edu	37	6	167754874	167754874	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:167754874G>A	uc003qvs.1	+	2	1574	c.1486G>A	c.(1486-1488)Gat>Aat	p.D496N		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	496					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GAGTGGGCAGGATTTTCATCT	0.547000														42			37		0	0	0.003755	0	0
ARMC2	84071	broad.mit.edu	37	6	109274371	109274371	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:109274371C>T	uc003pss.4	+	12	1906	c.1732C>T	c.(1732-1734)Ctg>Ttg	p.L578L	ARMC2_uc011eao.2_Silent_p.L413L	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	Homo sapiens armadillo repeat containing 2 (ARMC2), mRNA.	578							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TCAGCTGGATCTGCATTCCCA	0.552000														41			25		0	0	0.004656	0	0
DGKH	160851	broad.mit.edu	37	13	42763384	42763384	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:42763384C>T	uc001uyl.2	+	14	1918	c.1851C>T	c.(1849-1851)atC>atT	p.I617I	DGKH_uc010tfh.2_Silent_p.I617I|DGKH_uc001uym.2_Silent_p.I617I|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Silent_p.I372I|DGKH_uc001uyo.2_Silent_p.I481I|DGKH_uc010tfj.2_Silent_p.I481I|DGKH_uc001uyp.3_Non-coding_Transcript	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA.	617					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CAAGGGAAATCATGTTGCGGG	0.458000														36			18		0	0	0.004990	0	0
AKT1	207	broad.mit.edu	37	14	105242064	105242064	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:105242064G>A	uc001ypk.3	-	4	914	c.360C>T	c.(358-360)ttC>ttT	p.F120F	AKT1_uc001ypl.3_Silent_p.F120F|AKT1_uc010axa.3_Silent_p.F120F|AKT1_uc001ypm.3_Silent_p.F120F|AKT1_uc001ypn.3_Silent_p.F120F|AKT1_uc010tyk.2_Silent_p.F58F	NM_005163	NP_005154	P31749	AKT1_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA.	120					G-protein coupled receptor protein signaling pathway|T cell costimulation|activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to UV-A|response to fluid shear stress|response to heat	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	AGCCCGACCGGAAGTCCATCT	0.637000		1	Mis		"""breast, colorectal, ovarian, NSCLC"""									41			23		0	0	0.003330	0	0
DPYS	1807	broad.mit.edu	37	8	105456519	105456519	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:105456519C>T	uc003yly.4	-	3	879	c.750G>A	c.(748-750)atG>atA	p.M250I		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	250					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CAGACTTGCTCATCACATGCA	0.517000														26			11		0	0	0.013537	0	0
KIAA1024	23251	broad.mit.edu	37	15	79755471	79755471	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:79755471C>T	uc002bew.1	+	2	2436	c.2361C>T	c.(2359-2361)ttC>ttT	p.F787F	KIAA1024_uc010unk.1_Silent_p.F787F	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	787						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AAGATGGCTTCCTGGTGGAGC	0.602000														44			23		0	0	0.012319	0	0
C6orf170	221322	broad.mit.edu	37	6	121481210	121481210	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:121481210G>A	uc003pyo.1	-	23	2787	c.2719C>T	c.(2719-2721)Cca>Tca	p.P907S	C6orf170_uc003pyq.1_Non-coding_Transcript|C6orf170_uc010kej.1_Missense_Mutation_p.P6S|C6orf170_uc003pyp.1_Missense_Mutation_p.P467S	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	907					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		TTTGGCAATGGATATGATGAA	0.299000														70			37		0	0	0.014410	0	0
CR1L	1379	broad.mit.edu	37	1	207874891	207874891	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:207874891C>T	uc001hga.4	+	8	1377	c.1256C>T	c.(1255-1257)cCa>cTa	p.P419L	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	419	Sushi 7.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCTCCAGTTCCAGTGAATGGC	0.443000														53			28		0	0	0.013726	0	0
PPP1R9B	84687	broad.mit.edu	37	17	48226561	48226561	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:48226561C>T	uc002iqh.4	-	1	1297	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K		NM_032595	NP_115984	Q96SB3	NEB2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9B (PPP1R9B), mRNA.	438	Interacts with protein phosphatase 1 (By similarity).				RNA splicing|cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity	p.P432S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						GGGTCCTCCTCCTCCGACAGC	0.716000														4			9		0	0	0.008291	0	0
FRMD7	90167	broad.mit.edu	37	X	131220009	131220009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:131220009G>A	uc004ewn.3	-	5	614	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	FRMD7_uc022cdy.1_Missense_Mutation_p.R26W|FRMD7_uc011muy.2_Missense_Mutation_p.R131W	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	146	FERM.		R -> W (in NYS1).		regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GGTAAGTACCGAGTTTGTGCC	0.433000														23			68		0	0	0.014410	0	0
PEG3	5178	broad.mit.edu	37	19	57286131	57286131	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:57286131G>A	uc002qnr.2	-	10	1891	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F	BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_Silent_p.F299F|PEG3_uc010ygq.1_Silent_p.F299F|PEG3_uc010etp.2_Silent_p.F503F|PEG3_uc010ygs.1_Silent_p.F503F|PEG3_uc002qnq.2_Silent_p.F503F	NM_015363	NP_056178	Q9GZU2	PEG3_HUMAN	Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA.	636					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)		AGGGTCGGCCGAAACATTTCC	0.443000														40			24		0	0	0.003330	0	0
RGS7	6000	broad.mit.edu	37	1	241099944	241099944	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:241099944G>A	uc001hyv.2	-	4	619	c.289C>T	c.(289-291)Cat>Tat	p.H97Y	RGS7_uc010pyh.2_Missense_Mutation_p.H71Y|RGS7_uc010pyj.1_Missense_Mutation_p.H13Y|RGS7_uc001hyu.2_Missense_Mutation_p.H97Y|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Missense_Mutation_p.H97Y	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	97	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTGAGGACATGATCTGAGATT	0.398000														101			64		0	0	0.014410	0	0
AGAP8	728404	broad.mit.edu	37	10	48902369	48902369	+	Silent	SNP	G	A	A	rs111585822		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:48902369G>A	uc009xnv.2	-	2	610	c.504C>T	c.(502-504)atC>atT	p.I168I		NM_001077686	NP_001071154	Q5SRD3	AGAP8_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 8 (AGAP8), mRNA.	346					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			breast(1)|endometrium(1)|lung(2)|ovary(2)	6						CACCCAGCCCGATGTCCATGT	0.562000														25			46		0	0	0.013114	0	0
BCAT1	586	broad.mit.edu	37	12	24989501	24989501	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:24989501C>T	uc001rgd.4	-	7	1374	c.847G>A	c.(847-849)Ggc>Agc	p.G283S	BCAT1_uc001rgc.3_Missense_Mutation_p.G282S|BCAT1_uc010six.2_Missense_Mutation_p.G295S|BCAT1_uc010siy.2_Missense_Mutation_p.G246S|BCAT1_uc001rge.4_Missense_Mutation_p.G222S	NM_005504	NP_005495	P54687	BCAT1_HUMAN	Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 1, mRNA.	283					G1/S transition of mitotic cell cycle|branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	AGAATGATGCCATCTAGTGGA	0.423000														14			6		0	0	0.001168	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149212709	149212709	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:149212709C>T	uc003lrc.3	+	4	1164	c.1073C>T	c.(1072-1074)cCc>cTc	p.P358L	PPARGC1B_uc003lrb.2_Missense_Mutation_p.P358L|PPARGC1B_uc003lrd.3_Missense_Mutation_p.P319L|PPARGC1B_uc021yfr.1_Missense_Mutation_p.P294L|PPARGC1B_uc003lre.1_Missense_Mutation_p.P337L|PPARGC1B_uc003lrf.3_Missense_Mutation_p.P337L	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	358					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GTCAGCAAACCCTACCGTCTG	0.632000														52			18		0	0	0.006122	0	0
TGM2	7052	broad.mit.edu	37	20	36779353	36779353	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:36779353C>T	uc002xhr.3	-	3	640	c.540G>A	c.(538-540)tgG>tgA	p.W180*	TGM2_uc010zvx.2_Nonsense_Mutation_p.W99*|TGM2_uc010zvy.2_Nonsense_Mutation_p.W120*|TGM2_uc002xhs.1_Nonsense_Mutation_p.W156*|TGM2_uc002xht.3_Nonsense_Mutation_p.W180*|TGM2_uc002xhu.3_Nonsense_Mutation_p.W180*	NM_004613	NP_004604	P21980	TGM2_HUMAN	Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	180					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	GCCCAAAATTCCAAGGTATGT	0.582000														92			62		0	0	0.014410	0	0
LAMA3	3909	broad.mit.edu	37	18	21357521	21357521	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:21357521G>A	uc002kuq.3	+	11	1492	c.1406_splice	c.e11-1	p.R469_splice	LAMA3_uc010dlv.2_Splice_Site_p.R469_splice|LAMA3_uc002kur.3_Splice_Site_p.R469_splice	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	469	Domain V.|Laminin EGF-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATTTTTACAGGAATTCCCATT	0.343000														51			4		0	0	0.000602	0	0
MPP7	143098	broad.mit.edu	37	10	28378648	28378648	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:28378648G>A	uc001iua.1	-	13	1479	c.1075C>T	c.(1075-1077)Ccg>Tcg	p.P359S	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.P359S|MPP7_uc009xla.2_Missense_Mutation_p.P359S|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	359					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	p.P359P(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CGCCGATACGGTGTCACTTCT	0.388000														57			61		0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9057605	9057605	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9057605C>T	uc002mkp.3	-	2	30045	c.29841G>A	c.(29839-29841)atG>atA	p.M9947I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9949	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						ATTCTGACATCATGGATGAGG	0.478000														190			129		0	0	0.014410	0	0
TACR3	6870	broad.mit.edu	37	4	104640604	104640604	+	Nonsense_Mutation	SNP	G	A	A	rs149706734		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:104640604G>A	uc003hxe.1	-	0	370	c.229C>T	c.(229-231)Cag>Tag	p.Q77*		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	77						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TGCACGAACTGGTTGGTGAGG	0.637000														56			27		0	0	0.006320	0	0
EFCAB6	64800	broad.mit.edu	37	22	44068170	44068170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:44068170G>A	uc003bdy.2	-	13	1749	c.1435C>T	c.(1435-1437)Ccc>Tcc	p.P479S	EFCAB6_uc003bdz.2_Missense_Mutation_p.P327S|EFCAB6_uc010gzi.2_Missense_Mutation_p.P327S|EFCAB6_uc010gzk.1_Non-coding_Transcript	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TCTGTACAGGGAGATGTCTTT	0.428000														28			16		0	0	0.006122	0	0
GLI2	2736	broad.mit.edu	37	2	121708892	121708892	+	Missense_Mutation	SNP	C	T	T	rs143139718		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:121708892C>T	uc010flp.3	+	2	358	c.328C>T	c.(328-330)Cct>Tct	p.P110S	GLI2_uc010yyu.1_Missense_Mutation_p.P110S|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_5'UTR|GLI2_uc002tmw.1_Missense_Mutation_p.P110S	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	110					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCCGGCTGGCCCTGGGGAGTC	0.647000														65			33		0	0	0.013726	0	0
TBX5	6910	broad.mit.edu	37	12	114793500	114793500	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:114793500G>A	uc001tvo.3	-	8	1889	c.1394C>T	c.(1393-1395)cCt>cTt	p.P465L	TBX5_uc001tvp.3_Missense_Mutation_p.P465L|TBX5_uc001tvq.3_Missense_Mutation_p.P415L	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	465					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CCTGACCACAGGCTGGTGGGC	0.657000														20			12		0	0	0.002450	0	0
MPP7	143098	broad.mit.edu	37	10	28409531	28409531	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:28409531C>T	uc001iua.1	-	10	1086	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.E228K|MPP7_uc009xla.2_Missense_Mutation_p.E228K|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	228	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						ACCTTGCCTTCTTTTGATGGT	0.388000														19			13		0	0	0.002450	0	0
GCM2	9247	broad.mit.edu	37	6	10874607	10874607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:10874607G>A	uc003mzn.4	-	4	1214	c.1142C>T	c.(1141-1143)aCc>aTc	p.T381I	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	381					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GGTGATCACGGTTTGTAGGGC	0.562000														137			70		0	0	0.014410	0	0
MUC17	140453	broad.mit.edu	37	7	100679768	100679768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:100679768C>T	uc003uxp.1	+	2	5124	c.5071C>T	c.(5071-5073)Cct>Tct	p.P1691S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1691	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)					AGGAAGAACTCCTTTAACAAG	0.478000														152			85		0	0	0.014410	0	0
SGK2	10110	broad.mit.edu	37	20	42199298	42199298	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:42199298C>T	uc002xkv.3	+	5	801	c.582C>T	c.(580-582)ccC>ccT	p.P194P	SGK2_uc002xkr.3_Silent_p.P134P|SGK2_uc010ggm.3_Silent_p.P134P|SGK2_uc002xkt.3_Non-coding_Transcript|SGK2_uc002xku.3_Silent_p.P134P	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA.	194	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)			TCCTGGAGCCCCGGGCCAGGT	0.632000														65			19		0	0	0.003330	0	0
SEC61A2	55176	broad.mit.edu	37	10	12191670	12191670	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:12191670C>T	uc001ile.2	+	4	444	c.297C>T	c.(295-297)atC>atT	p.I99I	SEC61A2_uc010qbq.1_Silent_p.I77I|SEC61A2_uc001ilf.4_Non-coding_Transcript|SEC61A2_uc001ilh.4_Non-coding_Transcript|SEC61A2_uc001ilg.4_Silent_p.I99I	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN	Homo sapiens Sec61 alpha 2 subunit (S. cerevisiae) (SEC61A2), transcript variant 1, mRNA.	99						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				GAGCCAAAATCATTGAAGTTG	0.403000														308			80		0	0	0.014410	0	0
PRKCB	5579	broad.mit.edu	37	16	24166021	24166021	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:24166021G>A	uc002dmd.3	+	9	1279	c.1082G>A	c.(1081-1083)cGa>cAa	p.R361Q	PRKCB_uc002dme.3_Missense_Mutation_p.R361Q	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	361	Protein kinase.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CTTTCAGAACGAAAAGGCACA	0.507000														32			7		0	0	0.010729	0	0
IL1RN	3557	broad.mit.edu	37	2	113890433	113890433	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:113890433C>T	uc002tjb.3	+	3	583	c.519C>T	c.(517-519)ttC>ttT	p.F173F	IL1RN_uc002tix.1_Non-coding_Transcript|IL1RN_uc002tiz.3_Silent_p.F176F|IL1RN_uc002tiy.3_Silent_p.F139F|IL1RN_uc002tja.3_Silent_p.F155F	NM_173842	NP_776215	P18510	IL1RA_HUMAN	Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 1, mRNA.	173					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	AATTCTACTTCCAGGAGGACG	0.607000									Lichen Sclerosis et Atrophicus, Familial Clustering of					46			40		0	0	0.008740	0	0
ITK	3702	broad.mit.edu	37	5	156608032	156608032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:156608032C>T	uc003lwo.1	+	0	126	c.44C>T	c.(43-45)tCc>tTc	p.S15F		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	15	PH.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCAAGAAATCCCAACAAAAG	0.448000			T	SYK	peripheral T-cell lymphoma									225			53		0	0	0.014410	0	0
HMGB4	127540	broad.mit.edu	37	1	34330330	34330330	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:34330330G>A	uc021oky.1	+	0	538	c.538G>A	c.(538-540)Ggg>Agg	p.G180R	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Missense_Mutation_p.G180R|HMGB4_uc001bxq.3_Missense_Mutation_p.G106R	NM_145205	NP_660206	B2R4X7	B2R4X7_HUMAN	Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA.	180						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCGGTGCAGAGGGAAAAGAGT	0.458000														31			11		0	0	0.002450	0	0
ACAP3	116983	broad.mit.edu	37	1	1235944	1235944	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:1235944G>A	uc001aeb.2	-	5	541	c.467C>T	c.(466-468)gCc>gTc	p.A156V	ACAP3_uc001ady.2_5'Flank|ACAP3_uc001aea.2_Missense_Mutation_p.A114V|ACAP3_uc001aec.1_Missense_Mutation_p.A114V	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 (ACAP3), mRNA.	156					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GAGGGTGAGGGCCCCGGTGGC	0.672000														33			19		0	0	0.008871	0	0
FRY	10129	broad.mit.edu	37	13	32811634	32811634	+	Silent	SNP	C	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:32811634C>A	uc001utx.3	+	43	6425	c.5929C>A	c.(5929-5931)Cgg>Agg	p.R1977R	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1977					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CGAACGGAGCCGGCATCAACG	0.537000														19			11		6.40141e-05	7.05137e-05	0.010729	1	0
FLNC	2318	broad.mit.edu	37	7	128494134	128494134	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:128494134G>A	uc003vnz.4	+	39	6800	c.6591G>A	c.(6589-6591)cgG>cgA	p.R2197R	FLNC_uc003voa.4_Silent_p.R2164R	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2197	Intradomain insert.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.R2197Q(1)		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						GCAAGACGCGGGGCGGGGAGA	0.687000														25			10		0	0	0.008291	0	0
WDR6	11180	broad.mit.edu	37	3	49049302	49049302	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:49049302T>G	uc003cvj.2	+	1	563	c.425T>G	c.(424-426)cTg>cGg	p.L142R	WDR6_uc011bbx.1_Intron|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.L86R|WDR6_uc011bbz.1_Missense_Mutation_p.L61R	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	Homo sapiens WD repeat domain 6 (WDR6), mRNA.	112					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CGCTCTGGCCTGTGGAACATG	0.547000														69			31		0	0	0.012213	0	0
CCP110	9738	broad.mit.edu	37	16	19539282	19539282	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:19539282C>T	uc002dgl.4	+	1	326	c.79C>T	c.(79-81)Cct>Tct	p.P27S	CCP110_uc002dgk.4_Missense_Mutation_p.P27S	NM_001199022	NP_001185951	O43303	CP110_HUMAN	Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA.	27	CEP97 binding.				G2/M transition of mitotic cell cycle|centriole replication|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						GAGCTTTCTCCCTGCTCAGTC	0.403000														26			20		0	0	0.010504	0	0
PLXDC2	84898	broad.mit.edu	37	10	20506404	20506404	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:20506404G>A	uc001iqg.1	+	10	1809	c.1172G>A	c.(1171-1173)cGa>cAa	p.R391Q	PLXDC2_uc001iqh.1_Missense_Mutation_p.R342Q|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	391	Thr-rich.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ACTTCTTCTCGAACCACCACA	0.443000														33			15		0	0	0.003163	0	0
MUC16	94025	broad.mit.edu	37	19	9076887	9076887	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9076887G>A	uc002mkp.3	-	2	10763	c.10559C>T	c.(10558-10560)tCa>tTa	p.S3520L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3521	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						CGCAGGAGATGAAGTCTGAGA	0.507000														116			61		0	0	0.014410	0	0
PMEL	6490	broad.mit.edu	37	12	56349272	56349273	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:56349272_56349273CC>TT	uc001sir.3	-	8	2400_2401	c.1737_1738GG>AA	c.(1735-1740)gtggtc>gtAAtc	p.V580I	PMEL_uc001siq.3_Missense_Mutation_p.V580I|PMEL_uc010spx.2_Missense_Mutation_p.V494I|PMEL_uc001sip.3_Missense_Mutation_p.V580I	NM_006928	NP_008859	P40967	PMEL_HUMAN	Homo sapiens premelanosome protein (PMEL), transcript variant 3, mRNA.	580					melanin biosynthetic process|melanosome organization	Golgi apparatus|endoplasmic reticulum membrane|extracellular region|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGGGTGCTGACCACTGCCAGGC	0.569000														46			19		0	0	0.004672	0	0
MMP24	10893	broad.mit.edu	37	20	33855020	33855020	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:33855020A>T	uc002xbu.2	+	5	995	c.992A>T	c.(991-993)gAg>gTg	p.E331V	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.	331					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCCCCAGCCGAGCCTCTGGAG	0.662000														8			6		0	0	0.001168	0	0
KCNH1	3756	broad.mit.edu	37	1	211192252	211192252	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:211192252G>A	uc001hib.2	-	5	1075	c.905C>T	c.(904-906)tCc>tTc	p.S302F	KCNH1_uc001hic.2_Missense_Mutation_p.S302F	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	302					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGGCAAACAGGACAGAAGGTC	0.458000														88			52		0	0	0.014410	0	0
C4orf26	152816	broad.mit.edu	37	4	76489606	76489606	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:76489606C>T	uc011cbo.2	+	2	429	c.394C>T	c.(394-396)Cca>Tca	p.P132S	C4orf26_uc011cbn.2_Non-coding_Transcript|C4orf26_uc003hip.2_Missense_Mutation_p.P117L	NM_001206981	NP_001193910	Q17RF5	CD026_HUMAN	Homo sapiens chromosome 4 open reading frame 26 (C4orf26), transcript variant 1, mRNA.	0						extracellular region				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGGTATTTCCCCAGAAGAAGA	0.433000														151			84		0	0	0.014410	0	0
RGPD4	285190	broad.mit.edu	37	2	108488514	108488514	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:108488514G>A	uc010ywk.2	+	19	4136	c.4054G>A	c.(4054-4056)Gaa>Aaa	p.E1352K	RGPD4_uc002tdu.3_Missense_Mutation_p.E539K|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1352	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CAGTGGTGAGGAAAATGAAAA	0.368000														133			109		0	0	0.014410	0	0
PLXNA4	91584	broad.mit.edu	37	7	131878935	131878935	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:131878935G>A	uc003vra.4	-	13	2971	c.2742C>T	c.(2740-2742)atC>atT	p.I914I		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	914	IPT/TIG 1.					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						TCTCACACACGATCCTGCAGG	0.607000														63			33		0	0	0.004289	0	0
NRG1	3084	broad.mit.edu	37	8	32621281	32621281	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:32621281G>A	uc003xiv.2	+	11	1801	c.1284G>A	c.(1282-1284)atG>atA	p.M428I	NRG1_uc022ats.1_Missense_Mutation_p.M378I|NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.M433I|NRG1_uc003xiw.2_Missense_Mutation_p.M425I|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.M170I|NRG1_uc010lvs.2_Missense_Mutation_p.M170I|NRG1_uc010lvp.2_Missense_Mutation_p.M382I|NRG1_uc010lvq.2_Missense_Mutation_p.M358I|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.M271I|NRG1_uc003xja.2_Missense_Mutation_p.M239I	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	428					Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TGTCAGCCATGACCACCCCGG	0.542000														52			32		0	0	0.004289	0	0
DLEC1	9940	broad.mit.edu	37	3	38141857	38141857	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:38141857C>T	uc003chp.1	+	18	2826	c.2805C>T	c.(2803-2805)gcC>gcT	p.A935A	DLEC1_uc003cho.1_Silent_p.A935A|DLEC1_uc010hgv.1_Silent_p.A935A|DLEC1_uc003chr.1_Silent_p.A41A|DLEC1_uc010hgx.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	935					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)		CCTTGGAGGCCCTGCACTGCC	0.592000														72			39		0	0	0.006230	0	0
PCLO	27445	broad.mit.edu	37	7	82785564	82785564	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:82785564G>A	uc003uhx.2	-	1	682	c.393C>T	c.(391-393)tcC>tcT	p.S131S	PCLO_uc003uhv.2_Silent_p.S131S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	131					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGCTAATAGTGGAAGGACTCC	0.478000														65			30		0	0	0.013726	0	0
EFNB3	1949	broad.mit.edu	37	17	7611369	7611369	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:7611369C>T	uc002gis.3	+	1	613	c.216C>T	c.(214-216)tcC>tcT	p.S72S		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	Homo sapiens ephrin-B3 (EFNB3), mRNA.	72					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				GCCCTCACTCCTCTCCTAATT	0.622000														40			21		0	0	0.008871	0	0
ABCA12	26154	broad.mit.edu	37	2	215928919	215928919	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:215928919G>A	uc002vew.3	-	2	407	c.187C>T	c.(187-189)Cct>Tct	p.P63S	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.	63					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)		CCAGTACTAGGAAGGTTTCGA	0.423000														27			26		0	0	0.003954	0	0
HECW1	23072	broad.mit.edu	37	7	43580801	43580801	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:43580801C>T	uc003tid.1	+	24	4664	c.4059C>T	c.(4057-4059)atC>atT	p.I1353I	HECW1_uc011kbi.1_Silent_p.I1319I	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1353	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.L1352L(1)		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						TGGCTCTGATCCATCAGTACC	0.478000														73			32		0	0	0.004878	0	0
TLR10	81793	broad.mit.edu	37	4	38775644	38775644	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:38775644G>A	uc003gtj.3	-	3	2206	c.1568C>T	c.(1567-1569)cCa>cTa	p.P523L	TLR10_uc021xnk.1_Missense_Mutation_p.P509L|TLR10_uc003gti.3_Missense_Mutation_p.P523L|TLR10_uc021xnl.1_Missense_Mutation_p.P523L|TLR10_uc003gtk.3_Missense_Mutation_p.P523L|TLR10_uc021xnm.1_Missense_Mutation_p.P523L	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	523	LRRCT.				MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ACACCGGAATGGATTTCTTCC	0.393000														59			22		0	0	0.002780	0	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15326399	15326399	+	RNA	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr21:15326399C>T	uc002yji.2	-	1		c.816G>A								Homo sapiens ankyrin repeat domain 20 family, member A11, pseudogene (ANKRD20A11P), non-coding RNA.																		TCTCCTTTTCCATTGACTATT	0.448000														19			36		0	0	0.004878	0	0
DNAH11	8701	broad.mit.edu	37	7	21913052	21913052	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:21913052A>G	uc003svc.3	+	74	12180	c.12149A>G	c.(12148-12150)aAg>aGg	p.K4050R		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	4050	AAA 6 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AATTCCATTAAGATCACTAAT	0.478000									Kartagener syndrome					46			26		0	0	0.006320	0	0
ABCC1	4363	broad.mit.edu	37	16	16228264	16228264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:16228264C>T	uc010bvi.3	+	27	4199	c.4024C>T	c.(4024-4026)Cgg>Tgg	p.R1342W	ABCC1_uc010bvj.3_Missense_Mutation_p.R1283W|ABCC1_uc010bvk.3_Missense_Mutation_p.R1286W|ABCC1_uc010bvl.3_Missense_Mutation_p.R1342W|ABCC1_uc010bvm.3_Missense_Mutation_p.R1227W|ABCC1_uc002del.4_Missense_Mutation_p.R1236W	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	1342	ABC transporter 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R1342W(2)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGGCTTATTTCGGATCAACGA	0.597000														55			32		0	0	0.009535	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881959	228881959	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:228881959C>A	uc002vpq.2	-	6	3658	c.3611G>T	c.(3610-3612)aGa>aTa	p.R1204I	SPHKAP_uc002vpp.2_Missense_Mutation_p.R1204I|SPHKAP_uc010zlx.1_Missense_Mutation_p.R1204I	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1204						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)		TCTGCTGTCTCTTTCGATGTC	0.572000														103			21		3.85864e-22	4.30189e-22	0.002780	1	0
COL6A3	1293	broad.mit.edu	37	2	238285955	238285955	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:238285955C>T	uc002vwl.2	-	6	2815	c.2530G>A	c.(2530-2532)Ggc>Agc	p.G844S	COL6A3_uc002vwo.2_Missense_Mutation_p.G638S|COL6A3_uc010znj.1_Missense_Mutation_p.G237S|COL6A3_uc002vwq.3_Missense_Mutation_p.G638S|COL6A3_uc002vwr.3_Missense_Mutation_p.G437S|COL6A3_uc010znk.1_Missense_Mutation_p.G644S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	844	Nonhelical region.|VWFA 5.				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)		TTGGCTGAGCCGTCAAAGAGG	0.498000														56			9		0	0	0.006214	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38682858	38682859	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:38682858_38682859CC>TT	uc002ohk.3	+	16	5013_5014	c.4504_4505CC>TT	c.(4504-4506)cca>TTa	p.P1502L		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	1502					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)			CCTCCGGTCACCACGGAAGAAC	0.554000														32			22		0	0	0.004672	0	0
SPTA1	6708	broad.mit.edu	37	1	158607988	158607988	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:158607988G>A	uc001fst.1	-	35	5223	c.5024C>T	c.(5023-5025)tCc>tTc	p.S1675F		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1675					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)					AGTCCCGCTGGAGAGCAAATC	0.423000														33			18		0	0	0.010504	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	140666	140666	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140666C>T	uc003jak.2	+	0	294	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	82					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CAGGAGATCTCGGTCCTGGGA	0.672000														7			3		0	0	0.004672	0	0
SLC9B2	133308	broad.mit.edu	37	4	103987640	103987640	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:103987640C>T	uc003hwx.4	-	2	987	c.115G>A	c.(115-117)Ggt>Agt	p.G39S	SLC9B2_uc003hwy.3_Missense_Mutation_p.G39S|SLC9B2_uc011cew.2_Missense_Mutation_p.G39S|SLC9B2_uc011cex.1_Missense_Mutation_p.G39S|SLC9B2_uc011cey.2_Missense_Mutation_p.G39S	NM_178833	NP_849155	Q86UD5	NHDC2_HUMAN	Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 2 (SLC9B2), nuclear gene encoding mitochondrial protein, mRNA.	39					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										GCATCTATACCTTTGAGCTTC	0.323000														68			28		0	0	0.008361	0	0
KIAA0408	9729	broad.mit.edu	37	6	127775036	127775036	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:127775036C>T	uc011ebs.2	-	1	427	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	KIAA0408_uc003qbc.3_Missense_Mutation_p.E31K|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qbb.3_5'Flank	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	31							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CTTTCCCATTCCTTTCTTTCA	0.373000														69			46		0	0	0.010771	0	0
ARF6	382	broad.mit.edu	37	14	50360697	50360697	+	Silent	SNP	C	T	T	rs141035771		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:50360697C>T	uc021rsu.1	+	0	243	c.243C>T	c.(241-243)acC>acT	p.T81T	ARF6_uc001wxg.4_Silent_p.T81T	NM_001663	NP_001654	P62330	ARF6_HUMAN	Homo sapiens ADP-ribosylation factor 6 (ARF6), mRNA.	81					cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of Rac protein signal transduction|regulation of dendritic spine development|regulation of filopodium assembly|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|cell cortex|endosome membrane|filopodium membrane|membrane fraction|ruffle	GTP binding|GTPase activity|thioesterase binding			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	all_epithelial(31;0.000822)|Breast(41;0.0117)					ACACTGGGACCCAAGGTCTCA	0.582000														23			21		0	0	0.002780	0	0
GDF10	2662	broad.mit.edu	37	10	48429138	48429138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:48429138C>T	uc001jfb.3	-	1	1176	c.748G>A	c.(748-750)Gat>Aat	p.D250N	GDF10_uc009xnp.3_Missense_Mutation_p.D249N|GDF10_uc009xnq.2_Missense_Mutation_p.D250N	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	250					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.D250N(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						ATGGCCAGATCGTTGGCATAG	0.672000														14			8		0	0	0.004482	0	0
GPR115	221393	broad.mit.edu	37	6	47678598	47678598	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:47678598C>T	uc003oyz.1	+	4	447	c.447C>T	c.(445-447)agC>agT	p.S149S	GPR115_uc003oza.1_Silent_p.S92S|GPR115_uc003ozb.1_Silent_p.S92S	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	92					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S92R(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CATGTACAAGCCTTTCTGTGG	0.393000														60			6		0	0	0.001984	0	0
OTOGL	283310	broad.mit.edu	37	12	80696435	80696435	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:80696435G>A	uc001szd.3	+	26	3064	c.3058G>A	c.(3058-3060)Gaa>Aaa	p.E1020K		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTTTTTCTGGAAAACAAATC	0.294000														6			3		0	0	0.004672	0	0
OGDHL	55753	broad.mit.edu	37	10	50948771	50948771	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:50948771C>T	uc009xog.3	-	14	2240	c.2206G>A	c.(2206-2208)Gag>Aag	p.E736K	OGDHL_uc001jie.3_Missense_Mutation_p.E709K|OGDHL_uc010qgt.2_Missense_Mutation_p.E652K|OGDHL_uc010qgu.2_Missense_Mutation_p.E500K	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	709					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ACTCCGTACTCCGAGAGGGAG	0.647000														26			8		0	0	0.004482	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41058177	41058177	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:41058177G>A	uc003jmj.4	-	6	1234	c.744C>T	c.(742-744)ttC>ttT	p.F248F	HEATR7B2_uc003jmi.4_5'UTR|HEATR7B2_uc021xxt.1_Silent_p.F248F	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	248							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GAGTGACATGGAAATCAATCT	0.527000														38			17		0	0	0.010504	0	0
CLCNKA	1187	broad.mit.edu	37	1	16383395	16383395	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:16383395C>T	uc001axx.4	+	19	2184	c.2048C>T	c.(2047-2049)cCg>cTg	p.P683L	CLCNKA_uc021ogm.1_Missense_Mutation_p.P514L|CLCNKA_uc001axy.4_Missense_Mutation_p.P513L	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	683	CBS 2.		P -> L (in dbSNP:rs12746751).		excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CTGACAAATCCGCCAGCCCCA	0.572000														23			9		0	0	0.001855	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175770	140175770	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140175770G>A	uc003lhd.2	+	0	1327	c.1221G>A	c.(1219-1221)ttG>ttA	p.L407L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.L407L|PCDHAC2_uc011czy.2_Silent_p.L407L	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	421	Cadherin 4.				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)			ACTACTCGTTGGTGCTGGACA	0.622000														102			38		0	0	0.007835	0	0
CAMK2B	816	broad.mit.edu	37	7	44286758	44286758	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:44286758G>A	uc003tkq.2	-	5	585	c.375C>T	c.(373-375)ctC>ctT	p.L125L	CAMK2B_uc003tkp.2_Silent_p.L125L|CAMK2B_uc003tkr.2_Silent_p.L125L|CAMK2B_uc003tks.2_Silent_p.L125L|CAMK2B_uc003tku.2_Silent_p.L125L|CAMK2B_uc003tkv.2_Silent_p.L125L|CAMK2B_uc003tkt.2_Silent_p.L125L|CAMK2B_uc003tkw.2_Silent_p.L125L|CAMK2B_uc010kyc.2_Silent_p.L125L	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II beta (CAMK2B), transcript variant 1, mRNA.	125	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GGTGACAATGGAGAACGGCCT	0.587000														16			11		0	0	0.010729	0	0
MYO18B	84700	broad.mit.edu	37	22	26304324	26304324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:26304324G>A	uc003abz.1	+	31	5434	c.5184G>A	c.(5182-5184)atG>atA	p.M1728I	MYO18B_uc003aca.1_Missense_Mutation_p.M1609I|MYO18B_uc010guy.1_Missense_Mutation_p.M1610I|MYO18B_uc010guz.1_Missense_Mutation_p.M1608I|MYO18B_uc011aka.1_Missense_Mutation_p.M882I|MYO18B_uc011akb.1_Missense_Mutation_p.M1241I	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1728	Gln-rich.|Tail.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCGAGCGGATGAAGCAGATGC	0.602000														14			7		0	0	0.004482	0	0
EMCN	51705	broad.mit.edu	37	4	101401114	101401114	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:101401114C>T	uc003hvr.3	-	1	326	c.147G>A	c.(145-147)caG>caA	p.Q49Q	EMCN_uc011cel.2_Silent_p.Q49Q|EMCN_uc011cem.2_Silent_p.Q49Q	NM_016242	NP_057326	Q9ULC0	MUCEN_HUMAN	Homo sapiens endomucin (EMCN), transcript variant 1, mRNA.	49	Thr-rich.					extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		CAACATTTTTCTGTAATGATT	0.299000														27			14		0	0	0.004990	0	0
NPY1R	4886	broad.mit.edu	37	4	164247270	164247270	+	Missense_Mutation	SNP	C	T	T	rs148479836		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:164247270C>T	uc003iqm.2	-	1	902	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	NPY1R_uc021xtv.1_Missense_Mutation_p.R146Q|NPY1R_uc011cjj.2_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	146					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	p.R146Q(2)|p.R146R(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCTCCACCCTCGAGGGTTGAT	0.423000														45			23		0	0	0.002780	0	0
SERPINB3	6317	broad.mit.edu	37	18	61304960	61304960	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:61304960G>A	uc002ljf.3	-	7	1252	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F	SERPINB3_uc002lje.3_Missense_Mutation_p.S368F|SERPINB3_uc002ljg.3_Missense_Mutation_p.S389F	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	389					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CATCTATGGGGATGAGAATCT	0.398000														46			56		0	0	0.014410	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149857848	149857848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:149857848C>T	uc001etc.3	-	0	385	c.343G>A	c.(343-345)Ggc>Agc	p.G115S	HIST2H2AC_uc001etd.3_5'Flank	NM_003528	NP_003519	Q16778	H2B2E_HUMAN	Homo sapiens histone cluster 2, H2be (HIST2H2BE), mRNA.	115					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCCTTGGTGCCCTCGGACACG	0.672000														38			16		0	0	0.004007	0	0
PRDM9	56979	broad.mit.edu	37	5	23526840	23526840	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:23526840G>A	uc003jgo.3	+	10	1825	c.1643G>A	c.(1642-1644)gGg>gAg	p.G548E		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	548					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.G548G(1)		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						ACACATACAGGGGAGAAGCTC	0.488000										HNSCC(3;0.000094)				67			33		0	0	0.009535	0	0
EPYC	1833	broad.mit.edu	37	12	91396222	91396222	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:91396222C>T	uc001tbk.3	-	1	214	c.121G>A	c.(121-123)Gat>Aat	p.D41N		NM_004950	NP_004941	Q99645	EPYC_HUMAN	Homo sapiens epiphycan (EPYC), mRNA.	41					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						TACAAATTATCCAGGTCTTCT	0.403000														78			38		0	0	0.006230	0	0
FOSB	2354	broad.mit.edu	37	19	45975997	45975997	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:45975997G>A	uc002pbx.4	+	3	1336	c.744G>A	c.(742-744)aaG>aaA	p.K248K	ERCC1_uc002pbu.2_Intron|FOSB_uc010eka.1_Intron|FOSB_uc010ekb.1_Intron|FOSB_uc010ekc.1_Intron|FOSB_uc010ekd.1_Intron|FOSB_uc010eke.3_Silent_p.K173K|FOSB_uc002pby.4_Silent_p.K212K|FOSB_uc010ekf.3_Silent_p.K209K|FOSB_uc010ekg.3_Silent_p.K105K|FOSB_uc002pca.4_Silent_p.K199K	NM_006732	NP_006723	P53539	FOSB_HUMAN	Homo sapiens FBJ murine osteosarcoma viral oncogene homolog B (FOSB), transcript variant 1, mRNA.	248					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		CACCGGCTAAGGAAGATGGCT	0.677000														30			12		0	0	0.010729	0	0
NTF3	4908	broad.mit.edu	37	12	5603651	5603651	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:5603651G>A	uc001qnl.4	+	0	354	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	NTF3_uc001qnk.4_Missense_Mutation_p.E104K	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	91					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	p.T90A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						AATGGACACCGAACTGCTGCG	0.617000														50			29		0	0	0.009535	0	0
KCNQ2	3785	broad.mit.edu	37	20	62045536	62045536	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:62045536G>A	uc002yey.1	-	13	1713	c.1536C>T	c.(1534-1536)ctC>ctT	p.L512L	KCNQ2_uc002yez.1_Silent_p.L481L|KCNQ2_uc002yfa.1_Silent_p.L494L|KCNQ2_uc002yfb.1_Silent_p.L484L	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	512					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CCTCTCCGGGGAGGCTTGCTT	0.657000														27			20		0	0	0.010504	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090556	115090556	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:115090556C>T	uc001vuv.3	+	2	1571	c.1239C>T	c.(1237-1239)ccC>ccT	p.P413P	CHAMP1_uc010tko.2_Silent_p.P413P|CHAMP1_uc010ahb.3_Silent_p.P413P|CHAMP1_uc021rmx.1_Silent_p.P413P	NM_032436	NP_115812	Q96JM3	ZN828_HUMAN	Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA.	413	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										AGGCAGTTCCCCCAGTGTCTC	0.577000														95			15		0	0	0.003163	0	0
OR56B4	196335	broad.mit.edu	37	11	6129062	6129062	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:6129062C>T	uc010qzx.2	+	0	54	c.54C>T	c.(52-54)ttC>ttT	p.F18F		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 4 (OR56B4), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTCCCAGTTCATCCTGATGG	0.507000														50			27		0	0	0.005443	0	0
DTNA	1837	broad.mit.edu	37	18	32398222	32398223	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:32398222_32398223GG>AA	uc010dmn.1	+	6	805_806	c.804_805GG>AA	c.(802-807)caggac>caAAac	p.D269N	DTNA_uc002kxu.2_Missense_Mutation_p.D269N|DTNA_uc010xbx.2_Intron|DTNA_uc002kxv.4_Missense_Mutation_p.D269N|DTNA_uc002kxw.2_Missense_Mutation_p.D269N|DTNA_uc002kxx.2_Missense_Mutation_p.D269N|DTNA_uc002kxz.2_Missense_Mutation_p.D269N|DTNA_uc002kxy.2_Missense_Mutation_p.D269N|DTNA_uc010dmj.3_Missense_Mutation_p.D269N|DTNA_uc002kyb.4_Missense_Mutation_p.D269N|DTNA_uc010dml.3_Missense_Mutation_p.D269N|DTNA_uc010dmm.3_Missense_Mutation_p.D269N|DTNA_uc010xby.1_Missense_Mutation_p.D19N|DTNA_uc021uiq.1_Missense_Mutation_p.D19N|DTNA_uc021uir.1_Missense_Mutation_p.D19N|DTNA_uc002kyd.4_5'Flank|DTNA_uc010dmo.3_5'Flank|DTNA_uc002kye.3_5'Flank|DTNA_uc010xca.2_5'Flank|DTNA_uc010xbz.2_5'Flank	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA.	269	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AGCTCTGTCAGGACTGCTTCTG	0.510000														50			14		0	0	0.004672	0	0
CEP112	201134	broad.mit.edu	37	17	64092741	64092741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:64092741G>A	uc002jfl.3	-	6	871	c.652C>T	c.(652-654)Cct>Tct	p.P218S	CEP112_uc002jfm.3_Missense_Mutation_p.P218S|CEP112_uc010dep.2_Intron	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	Homo sapiens centrosomal protein 112kDa (CEP112), transcript variant 1, mRNA.	218						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						AGGTATCGAGGATTTTCTATC	0.279000														39			4		0	0	0.000602	0	0
ATG2A	23130	broad.mit.edu	37	11	64668367	64668368	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:64668367_64668368GT>AA	uc001obx.3	-	29	4431_4432	c.4316_4317AC>TT	c.(4315-4317)cac>cTT	p.H1439L	ATG2A_uc001obw.3_Missense_Mutation_p.H204L	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1439							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGTGGCCGGGGTGGGGGCCAAA	0.658000														4			3		0	0	0.004672	0	0
OR6K6	128371	broad.mit.edu	37	1	158725232	158725232	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:158725232C>T	uc001fsw.1	+	0	627	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TCTGTGATTTCACACCTGTGC	0.502000														42			21		0	0	0.008871	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140750236	140750236	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140750236G>A	uc003ljw.2	+	0	275	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	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_uc011dat.2_Missense_Mutation_p.R92Q	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	92	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D91N(1)		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)			CGTATAGACCGAGAGGAGATT	0.443000														221			58		0	0	0.014410	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2422192	2422192	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:2422192G>A	uc010xgx.2	+	12	2393	c.2393G>A	c.(2392-2394)gGa>gAa	p.G798E		NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	798					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		ACTGCTAGGGGACAGACGCCA	0.662000														65			31		0	0	0.006230	0	0
RAF1	5894	broad.mit.edu	37	3	12660162	12660162	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:12660162G>A	uc003bxf.4	-	1	474	c.59C>T	c.(58-60)gCc>gTc	p.A20V	RAF1_uc011auu.2_5'UTR	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	20					Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	ATCAAACACGGCATCTTTGAA	0.453000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome					47			30		0	0	0.010818	0	0
C15orf39	56905	broad.mit.edu	37	15	75500890	75500890	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:75500890C>T	uc002azp.4	+	1	2821	c.2501C>T	c.(2500-2502)cCc>cTc	p.P834L	C15orf39_uc002azq.4_Missense_Mutation_p.P834L|C15orf39_uc021sqm.1_Missense_Mutation_p.P593L|C15orf39_uc002azr.4_Missense_Mutation_p.P232L	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	834										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						TGCCCCTTCCCCCATGTGGTG	0.672000														9			3		0	0	0.004672	0	0
LRRN1	57633	broad.mit.edu	37	3	3886591	3886591	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:3886591A>G	uc003bpt.4	+	1	1027	c.266A>G	c.(265-267)gAt>gGt	p.D89G	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.D89G	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	89						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)		AAGACTGTGGATGAGCTGCAG	0.448000														27			18		0	0	0.006122	0	0
KEAP1	9817	broad.mit.edu	37	19	10600376	10600376	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:10600376C>T	uc002moq.1	-	3	1635	c.1479G>A	c.(1477-1479)gaG>gaA	p.E493E	KEAP1_uc002mop.1_Silent_p.E211E|KEAP1_uc002mor.1_Silent_p.E493E	NM_012289	NP_987096	Q14145	KEAP1_HUMAN	Homo sapiens kelch-like ECH-associated protein 1 (KEAP1), transcript variant 2, mRNA.	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.E493D(2)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			ACTCGTTCCTCTCTGGGTAGT	0.597000														66			35		0	0	0.006230	0	0
VAV3	10451	broad.mit.edu	37	1	108145775	108145775	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:108145775C>T	uc001dvk.1	-	22	2080	c.2026G>A	c.(2026-2028)Gca>Aca	p.A676T	VAV3_uc010ouu.1_Missense_Mutation_p.A80T|VAV3_uc001dvj.1_Missense_Mutation_p.A116T|VAV3_uc010ouv.1_Missense_Mutation_p.A80T|VAV3_uc010ouw.1_Missense_Mutation_p.A676T	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.	676	SH2.				B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTTTCCATTGCTCCAGCATAC	0.358000														47			39		0	0	0.008740	0	0
RASAL2	9462	broad.mit.edu	37	1	178410699	178410699	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:178410699G>A	uc001glq.3	+	6	1608	c.844G>A	c.(844-846)Gga>Aga	p.G282R	RASAL2_uc001glr.3_Missense_Mutation_p.G134R	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	134					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CTACTTAAGTGGAAGTAAATG	0.388000														25			18		0	0	0.008871	0	0
GP2	2813	broad.mit.edu	37	16	20322599	20322599	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:20322599G>A	uc002dgv.3	-	11	1643	c.1560C>T	c.(1558-1560)ttC>ttT	p.F520F	GP2_uc002dgw.3_Silent_p.F517F|GP2_uc002dgx.3_Silent_p.F373F|GP2_uc002dgy.3_Silent_p.F370F	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	520						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGCCACCAGGAACCCTGAAA	0.502000														53			9		0	0	0.004482	0	0
CCDC40	55036	broad.mit.edu	37	17	78073401	78073401	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:78073401C>T	uc010dht.3	+	19	3287	c.3256C>T	c.(3256-3258)Ctg>Ttg	p.L1086L	CCDC40_uc002jxm.4_Silent_p.L869L|CCDC40_uc002jxn.4_Silent_p.L482L|GAA_uc002jxp.3_5'Flank|GAA_uc002jxo.3_5'Flank|GAA_uc002jxq.3_5'Flank	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	1086					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CTACGTGTTCCTGTTCCGCTC	0.607000														56			8		0	0	0.003080	0	0
VEGFC	7424	broad.mit.edu	37	4	177648941	177648941	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:177648941G>A	uc003ius.1	-	2	973	c.543C>T	c.(541-543)ctC>ctT	p.L181L		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	181					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CCGTCTTGCTGAGGTAGCTCG	0.498000														52			32		0	0	0.012213	0	0
SPEG	10290	broad.mit.edu	37	2	220338616	220338616	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:220338616G>A	uc010fwg.3	+	17	4438	c.4438G>A	c.(4438-4440)Gag>Aag	p.E1480K		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1480	Ig-like 7.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGTCACATTGGAGCTGGCAGG	0.637000														54			7		0	0	0.001984	0	0
SNRNP48	154007	broad.mit.edu	37	6	7602873	7602873	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:7602873C>T	uc003mxr.3	+	5	672	c.613C>T	c.(613-615)Cca>Tca	p.P205S	SNRNP48_uc003mxs.3_Non-coding_Transcript|SNRNP48_uc003mxt.1_5'UTR	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	Homo sapiens small nuclear ribonucleoprotein 48kDa (U11/U12) (SNRNP48), mRNA.	205					mRNA processing	U12-type spliceosomal complex|cytoplasm	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TCGAAAAAGTCCAAAATCCTA	0.303000														31			15		0	0	0.004007	0	0
NOL4	8715	broad.mit.edu	37	18	31599502	31599502	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:31599502C>T	uc010dmi.3	-	5	1134	c.836G>A	c.(835-837)gGg>gAg	p.G279E	NOL4_uc010xbs.2_5'UTR|NOL4_uc002kxr.4_Missense_Mutation_p.G115E|NOL4_uc010xbt.2_Missense_Mutation_p.G205E|NOL4_uc010dmh.3_Missense_Mutation_p.G205E|NOL4_uc010xbu.2_Missense_Mutation_p.G279E|NOL4_uc002kxt.4_Missense_Mutation_p.G279E|NOL4_uc010xbv.1_Missense_Mutation_p.G28E	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	279						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GTGTGTTCCCCCTGAAGCAAT	0.463000														28			21		0	0	0.014323	0	0
TTN	7273	broad.mit.edu	37	2	179451330	179451330	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179451330T>A	uc021vsy.1	-	256	56819	c.56594A>T	c.(56593-56595)gAa>gTa	p.E18865V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E12560V|TTN_uc021vta.1_Missense_Mutation_p.E12493V|TTN_uc021vtb.1_Missense_Mutation_p.E12368V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19792	Ig-like 107.						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)			TTTCTTTCCTTCCTTTAGGCC	0.453000														52			42		0	0	0.009718	0	0
KIAA1328	57536	broad.mit.edu	37	18	34753042	34753043	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:34753042_34753043CC>TT	uc002kzz.3	+	8	1543_1544	c.1521_1522CC>TT	c.(1519-1524)tcccgg>tcTTgg	p.R508W	KIAA1328_uc002lab.3_Missense_Mutation_p.R260C|KIAA1328_uc002lac.1_Missense_Mutation_p.R367W	NM_020776	NP_065827	Q86T90	K1328_HUMAN	Homo sapiens KIAA1328 (KIAA1328), mRNA.	508										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		ACACCACCTCCCGGTAAGCTTC	0.391000														52			42		0	0	0.004672	0	0
DSCAM	1826	broad.mit.edu	37	21	41414529	41414529	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr21:41414529C>T	uc002yyq.1	-	31	5907	c.5455G>A	c.(5455-5457)Gaa>Aaa	p.E1819K	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.	1819					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)				TTGGCGTGTTCGTAGGCCCTG	0.527000														23			31		0	0	0.007291	0	0
OR2A7	401427	broad.mit.edu	37	7	143955995	143955995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:143955995G>A	uc011kuc.2	-	0	727	c.727C>T	c.(727-729)Cac>Tac	p.H243Y	OR2A9P_uc003wec.1_Intron|OR2A9P_uc003wed.3_5'Flank	NM_001005328	NP_001005328	Q96R45	OR2A7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 7 (OR2A7), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S242P(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					ACACAGAGGTGGGAGAAGCAG	0.453000														273			52		0	0	0.014410	0	0
OR5H2	79310	broad.mit.edu	37	3	98001872	98001872	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:98001872C>T	uc003dsj.1	+	0	141	c.141C>T	c.(139-141)aaC>aaT	p.N47N		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TTGTGTGGAACCTTGGTCTGA	0.428000														96			99		0	0	0.014410	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869589	36869589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:36869589G>A	uc002xhy.1	-	2	1216	c.944C>T	c.(943-945)cCc>cTc	p.P315L	KIAA1755_uc002xhz.1_Missense_Mutation_p.P315L	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	315										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TTGAAATAAGGGAGTTTCCTT	0.522000														145			69		0	0	0.014410	0	0
FSTL4	23105	broad.mit.edu	37	5	132939627	132939627	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:132939627G>A	uc003kyn.1	-	1	266	c.48C>T	c.(46-48)tcC>tcT	p.S16S		NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	16						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGCCGGCAGGGAGGCTCCGA	0.532000														42			32		0	0	0.010818	0	0
TBX4	9496	broad.mit.edu	37	17	59557286	59557286	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:59557286C>T	uc010ddo.3	+	6	910	c.747C>T	c.(745-747)ttC>ttT	p.F249F	TBX4_uc002izi.3_Silent_p.F249F|TBX4_uc010woy.2_Silent_p.F249F	NM_018488	NP_060958	P57082	TBX4_HUMAN	Homo sapiens T-box 4 (TBX4), mRNA.	249					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CCAAGGGATTCCGGGGCAGTG	0.582000														66			36		0	0	0.006999	0	0
CTSS	1520	broad.mit.edu	37	1	150724443	150724443	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:150724443G>A	uc001evn.3	-	4	702	c.441C>T	c.(439-441)gcC>gcT	p.A147A	CTSS_uc010pcj.2_Silent_p.A97A	NM_004079	NP_004070	P25774	CATS_HUMAN	Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA.	147					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			GTGCTTCCAGGGCCCCCACAG	0.478000														36			20		0	0	0.008871	0	0
UBR5	51366	broad.mit.edu	37	8	103354800	103354800	+	Silent	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:103354800A>G	uc003ykr.2	-	8	1454	c.999T>C	c.(997-999)ggT>ggC	p.G333G	UBR5_uc003yks.2_Silent_p.G333G	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	333					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGCTGGTAGAACCCCTTTCAT	0.458000														79			33		0	0	0.012213	0	0
MLL	4297	broad.mit.edu	37	11	118366446	118366446	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:118366446C>T	uc001pta.3	+	18	5409	c.5386C>T	c.(5386-5388)Cct>Tct	p.P1796S	MLL_uc001ptb.3_Missense_Mutation_p.P1799S	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	1796					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AGTGCTTCCACCTTCACTTGA	0.408000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									25			35		0	0	0.004289	0	0
HTR4	3360	broad.mit.edu	37	5	147889316	147889316	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:147889316G>A	uc021yfj.1	-	4	826	c.779C>T	c.(778-780)aCc>aTc	p.T260I	HTR4_uc021yfg.1_Missense_Mutation_p.T260I|HTR4_uc021yfh.1_Missense_Mutation_p.T260I|HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc021yfi.1_Missense_Mutation_p.T260I|HTR4_uc011dby.1_Missense_Mutation_p.T260I|HTR4_uc003lpn.3_Missense_Mutation_p.T260I|HTR4_uc010jgv.3_Non-coding_Transcript|HTR4_uc021yfk.1_Missense_Mutation_p.T260I	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	260					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GATGCACAGGGTCTTGGCTGC	0.547000														33			29		0	0	0.009535	0	0
AK7	122481	broad.mit.edu	37	14	96916185	96916185	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:96916185G>A	uc001yfn.2	+	8	961	c.917G>A	c.(916-918)aGa>aAa	p.R306K		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	306					cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		AAAATACCCAGAGAAAATGCA	0.313000														19			7		0	0	0.001984	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203800888	203800888	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:203800888C>T	uc001hac.3	+	10	1416	c.800C>T	c.(799-801)tCc>tTc	p.S267F	ZC3H11A_uc001had.3_Missense_Mutation_p.S267F|ZC3H11A_uc001hae.3_Missense_Mutation_p.S267F|ZC3H11A_uc001haf.3_Missense_Mutation_p.S267F|ZC3H11A_uc010pqm.2_Missense_Mutation_p.S213F|ZC3H11A_uc001hag.1_Missense_Mutation_p.S267F	NM_014827	NP_055642	O75152	ZC11A_HUMAN	Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA.	267							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTAACTCTCTCCACCAAACAA	0.428000														28			11		0	0	0.008291	0	0
C8orf44	56260	broad.mit.edu	37	8	67592026	67592026	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:67592026C>T	uc003xwo.2	+	2	534	c.317C>T	c.(316-318)tCt>tTt	p.S106F	SGK3_uc003xwp.3_5'UTR|C8orf44_uc003xwq.2_Missense_Mutation_p.S106F	NM_019607	NP_062553	Q96CB5	CH044_HUMAN	Homo sapiens chromosome 8 open reading frame 44 (C8orf44), mRNA.	106										endometrium(1)|kidney(1)|lung(2)	4	Breast(64;0.186)		Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CAAAAGGGGTCTTTGGCCATC	0.418000														45			31		0	0	0.010818	0	0
MAML1	9794	broad.mit.edu	37	5	179201801	179201801	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:179201801C>T	uc003mkm.3	+	4	3237	c.2974C>T	c.(2974-2976)Ctg>Ttg	p.L992L	MAML1_uc003mkn.1_Intron	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	992					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACACACCGATCTGATCGACTC	0.557000														71			19		0	0	0.007413	0	0
ZNF574	64763	broad.mit.edu	37	19	42584105	42584105	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:42584105G>A	uc002osk.4	+	1	1852	c.1617G>A	c.(1615-1617)gaG>gaA	p.E539E	ZNF574_uc002osm.4_Silent_p.E449E|ZNF574_uc021uva.1_Silent_p.E449E	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	Homo sapiens zinc finger protein 574 (ZNF574), mRNA.	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				AGGCCCCTGAGCCCCCTGTGT	0.647000														55			22		0	0	0.014323	0	0
IMPACT	55364	broad.mit.edu	37	18	22029803	22029803	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:22029803C>T	uc002kvh.4	+	9	892	c.780C>T	c.(778-780)gtC>gtT	p.V260V	IMPACT_uc002kvg.4_Silent_p.V242V	NM_018439	NP_060909	Q9P2X3	IMPCT_HUMAN	Homo sapiens Impact homolog (mouse) (IMPACT), mRNA.	260										endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					TGAAGAATGTCATGGTGGTAG	0.343000														20			13		0	0	0.001855	0	0
OR5AS1	219447	broad.mit.edu	37	11	55797987	55797987	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:55797987C>T	uc010riw.2	+	0	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F31S(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TCTTGGTATTCCTTCTGGTAT	0.328000														37			6		0	0	0.001984	0	0
STAT4	6775	broad.mit.edu	37	2	191897726	191897726	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:191897726C>T	uc002usm.2	-	20	2317	c.2002G>A	c.(2002-2004)Gac>Aac	p.D668N	STAT4_uc002usn.2_Missense_Mutation_p.D668N|STAT4_uc010zgk.1_Missense_Mutation_p.D513N|STAT4_uc002uso.2_Missense_Mutation_p.D668N	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	668					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.D668H(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AAGGCTTTGTCTTTGGGAATG	0.398000														47			11		0	0	0.001855	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769798	112769798	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:112769798C>T	uc003kqm.2	-	0	931	c.739G>A	c.(739-741)Gac>Aac	p.D247N	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	247	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TAGATGAGGTCCTTGCACTCG	0.602000														24			20		0	0	0.014323	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159776189	159776189	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:159776189G>A	uc003lyd.3	-	2	983	c.979C>T	c.(979-981)Ccc>Tcc	p.P327S		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 2 (C1QTNF2), mRNA.	282						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)			ACCTCGTTGGGGTCATCCTGG	0.557000														47			45		0	0	0.014410	0	0
ACPL2	92370	broad.mit.edu	37	3	141006222	141006222	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:141006222C>T	uc003etu.3	+	6	731	c.432C>T	c.(430-432)ttC>ttT	p.F144F	ACPL2_uc003etv.3_Silent_p.F144F|ACPL2_uc011bna.2_Silent_p.F106F|ACPL2_uc011bnb.2_Silent_p.F127F	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	Homo sapiens acid phosphatase-like 2 (ACPL2), transcript variant 1, mRNA.	144						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						GAGCCTCTTTCGAAAGCCCCT	0.493000														118			5		0	0	0.001168	0	0
CNOT6	57472	broad.mit.edu	37	5	179977003	179977003	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:179977003C>T	uc003mlx.3	+	2	534	c.185C>T	c.(184-186)tCc>tTc	p.S62F	CNOT6_uc010jld.3_Missense_Mutation_p.S62F|CNOT6_uc010jle.3_Missense_Mutation_p.S62F	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6 (CNOT6), mRNA.	62					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|exonuclease activity|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		AGTGACAATTCCCTGTCCCGA	0.423000														65			64		0	0	0.014410	0	0
SEMA4G	57715	broad.mit.edu	37	10	102740680	102740680	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:102740680C>T	uc001krw.2	+	11	1953	c.1569C>T	c.(1567-1569)ccC>ccT	p.P523P	SEMA4G_uc001krv.3_Non-coding_Transcript|SEMA4G_uc010qpt.1_Silent_p.P523P|SEMA4G_uc001krx.3_Silent_p.P523P|MRPL43_uc001kry.1_Intron|MRPL43_uc010qpu.1_Intron	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G (SEMA4G), transcript variant 1, mRNA.	523	PSI.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CCCGAGACCCCTACTGTGGCT	0.632000														61			58		0	0	0.014410	0	0
DENND1A	57706	broad.mit.edu	37	9	126144301	126144301	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:126144301G>A	uc011lzm.1	-	20	2687	c.2473C>T	c.(2473-2475)Caa>Taa	p.Q825*	DENND1A_uc011lzl.1_Nonsense_Mutation_p.Q632*|DENND1A_uc004bny.1_Nonsense_Mutation_p.Q596*|DENND1A_uc004bnz.1_Nonsense_Mutation_p.Q814*|DENND1A_uc010mwh.1_Nonsense_Mutation_p.Q235*	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	814	Pro-rich.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						AAGCTGAATTGGGGGGTGAAT	0.682000														3			10		0	0	0.008291	0	0
ADRBK1	156	broad.mit.edu	37	11	67052452	67052452	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:67052452C>T	uc009yrn.1	+	18	2055	c.1789C>T	c.(1789-1791)Ccg>Tcg	p.P597S		NM_001619	NP_001610	P25098	ARBK1_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 1 (ADRBK1), mRNA.	597	PH.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	ATP binding|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|alpha-2A adrenergic receptor binding|beta-adrenergic receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GGGCGAGGCCCCGGTAAGGAG	0.706000														15			8		0	0	0.003080	0	0
ADAM12	8038	broad.mit.edu	37	10	127737933	127737933	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:127737933G>A	uc001ljk.2	-	15	2228	c.1815C>T	c.(1813-1815)atC>atT	p.I605I	ADAM12_uc010qul.1_Silent_p.I556I|ADAM12_uc001ljm.3_Silent_p.I605I|ADAM12_uc001ljn.3_Silent_p.I602I|ADAM12_uc001ljl.4_Silent_p.I602I	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	605	Cys-rich.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GCTGCAGGGGGATGTTTGTTT	0.557000														78			23		0	0	0.014323	0	0
KANK2	25959	broad.mit.edu	37	19	11304039	11304040	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:11304039_11304040GG>AA	uc002mqm.3	-	1	795_796	c.716_717CC>TT	c.(715-717)ccc>cTT	p.P239L	KANK2_uc021upe.1_Missense_Mutation_p.P239L|KANK2_uc002mqo.4_Missense_Mutation_p.P239L|KANK2_uc002mqp.1_Missense_Mutation_p.P48L|KANK2_uc002mqq.3_Missense_Mutation_p.P239L	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	239										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGCCCGCTGTGGGGTGGCCCAG	0.644000														14			11		0	0	0.004672	0	0
FRMD4A	55691	broad.mit.edu	37	10	13693946	13693946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:13693946C>T	uc001ims.3	-	23	3431	c.3079G>A	c.(3079-3081)Gat>Aat	p.D1027N	PRPF18_uc001imq.3_Intron|FRMD4A_uc009xjf.1_Missense_Mutation_p.D1027N	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	1027						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TCAGACCCATCCAGAATGGGT	0.478000														71			18		0	0	0.003330	0	0
BRD3	8019	broad.mit.edu	37	9	136901263	136901263	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:136901263G>A	uc004cew.3	-	9	2015	c.1827C>T	c.(1825-1827)tcC>tcT	p.S609S	BRD3_uc004cex.2_3'UTR	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	609						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CGTCGGGGTTGGAGTCCCTGA	0.532000			T	C15orf55	lethal midline carcinoma of young people									17			32		0	0	0.012213	0	0
ISOC2	79763	broad.mit.edu	37	19	55967752	55967752	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:55967752G>A	uc002qla.3	-	1	276	c.102C>T	c.(100-102)ttC>ttT	p.F34F	ISOC2_uc002qlb.3_Silent_p.F34F|ISOC2_uc002qlc.3_Silent_p.F34F	NM_024710	NP_078986	Q96AB3	ISOC2_HUMAN	Homo sapiens isochorismatase domain containing 2 (ISOC2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	34					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		CGATCTGTGGGAAGTAGGCGA	0.632000														76			15		0	0	0.007413	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52001350	52001350	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:52001350C>T	uc002pwx.1	-	4	1383	c.1327G>A	c.(1327-1329)Gaa>Aaa	p.E443K	SIGLEC12_uc002pww.1_Missense_Mutation_p.E325K|SIGLEC12_uc010eoy.1_Missense_Mutation_p.E170K	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	443	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CAGGTGAATTCCCCTTCATCC	0.612000														35			15		0	0	0.004007	0	0
SLC4A10	57282	broad.mit.edu	37	2	162833319	162833319	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:162833319T>G	uc002ubx.4	+	24	3461	c.3277T>G	c.(3277-3279)Ttg>Gtg	p.L1093V	SLC4A10_uc010zcs.2_Missense_Mutation_p.L1074V|SLC4A10_uc002uby.4_Missense_Mutation_p.L1063V	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	1093					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAAGACTGCCTTGTGGAGGAA	0.343000														11			7		0	0	0.004482	0	0
ALPL	249	broad.mit.edu	37	1	21889741	21889741	+	Missense_Mutation	SNP	G	A	A	rs138587317		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:21889741G>A	uc001bet.3	+	4	693	c.436G>A	c.(436-438)Gag>Aag	p.E146K	ALPL_uc010odo.2_Missense_Mutation_p.E91K|ALPL_uc010odp.2_Missense_Mutation_p.E69K|ALPL_uc010odn.2_Missense_Mutation_p.E94K|ALPL_uc001beu.4_Missense_Mutation_p.E146K	NM_000478	NP_001120973	P05186	PPBT_HUMAN	Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA.	146					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.E146K(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	CCAGGGGAACGAGGTCACCTC	0.667000														33			23		0	0	0.014323	0	0
C7orf66	154907	broad.mit.edu	37	7	108524165	108524165	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:108524165G>A	uc003vfo.3	-	1	295	c.247C>T	c.(247-249)Cat>Tat	p.H83Y		NM_001024607	NP_001019778	A4D0T2	CG066_HUMAN	Homo sapiens chromosome 7 open reading frame 66 (C7orf66), mRNA.	83						integral to membrane		p.I82I(1)		breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TATCCCTCATGAATTCTAGTT	0.393000														40			33		0	0	0.013726	0	0
ZNF479	90827	broad.mit.edu	37	7	57194383	57194384	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:57194383_57194384CC>TT	uc010kzo.3	-	2	352_353	c.81_82GG>AA	c.(79-84)ctggag>ctAAag	p.E28K		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L27M(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGCCATTCCTCCAGAGAGAATT	0.436000														37			23		0	0	0.004672	0	0
SLC4A3	6508	broad.mit.edu	37	2	220498006	220498006	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:220498006G>A	uc002vmo.4	+	9	1578	c.1369G>A	c.(1369-1371)Gat>Aat	p.D457N	SLC4A3_uc002vmp.4_Missense_Mutation_p.D430N|SLC4A3_uc010fwm.3_5'UTR|SLC4A3_uc010fwn.1_5'UTR	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	430					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	p.D457N(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCATCCCAACGATGACAAGGA	0.582000														61			17		0	0	0.010504	0	0
ATRN	8455	broad.mit.edu	37	20	3541349	3541349	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:3541349G>A	uc002wim.2	+	7	1334	c.1244G>A	c.(1243-1245)gGg>gAg	p.G415E	ATRN_uc002wil.2_Missense_Mutation_p.G415E|ATRN_uc021vzz.1_Missense_Mutation_p.G299E	NM_139321	NP_647537	O75882	ATRN_HUMAN	Homo sapiens attractin (ATRN), transcript variant 1, mRNA.	415					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GATTCAACTGGGAATGTGACC	0.353000														7			9		0	0	0.008291	0	0
FCGBP	8857	broad.mit.edu	37	19	40405985	40405985	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:40405985C>T	uc002omp.4	-	9	4869	c.4861G>A	c.(4861-4863)Gaa>Aaa	p.E1621K		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1621	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGCTGTGTTCCTGGCACACC	0.642000														16			13		0	0	0.002450	0	0
PACS1	55690	broad.mit.edu	37	11	66006656	66006656	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:66006656C>T	uc001oha.2	+	20	2471	c.2337C>T	c.(2335-2337)tcC>tcT	p.S779S	PACS1_uc010rou.2_Silent_p.S315S	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	779					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	p.S779S(2)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CTGTGCCCTCCACATCACCAC	0.617000														30			23		0	0	0.006320	0	0
SYNE1	23345	broad.mit.edu	37	6	152576878	152576878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:152576878C>T	uc021zhb.1	-	100	19331	c.19108G>A	c.(19108-19110)Gga>Aga	p.G6370R	SYNE1_uc003qos.4_Missense_Mutation_p.G894R|SYNE1_uc003qot.4_Missense_Mutation_p.G6299R|SYNE1_uc003qou.4_Missense_Mutation_p.G6370R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	6370					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTGCCCCTCCACTCTGGGAA	0.443000										HNSCC(10;0.0054)				60			31		0	0	0.013726	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45501489	45501489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:45501489G>A	uc001cnd.2	-	9	2390	c.2162C>T	c.(2161-2163)cCt>cTt	p.P721L		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	721							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ACCGCTGAAAGGACCTCCTGG	0.498000														34			18		0	0	0.007413	0	0
DUXA	503835	broad.mit.edu	37	19	57666724	57666724	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:57666724C>T	uc002qoa.1	-	4	500	c.455G>A	c.(454-456)cGa>cAa	p.R152Q		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	Homo sapiens double homeobox A (DUXA), mRNA.	152						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		TCTAGATCTTCGATTTTGGAA	0.378000														35			20		0	0	0.002780	0	0
DNAH11	8701	broad.mit.edu	37	7	21781645	21781645	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:21781645C>T	uc003svc.3	+	49	8067	c.8036C>T	c.(8035-8037)gCt>gTt	p.A2679V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2679	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAAGCATTTGCTCCATCAATT	0.408000									Kartagener syndrome					71			50		0	0	0.014410	0	0
LRP2	4036	broad.mit.edu	37	2	170115698	170115698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:170115698C>T	uc002ues.3	-	16	2563	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K	LRP2_uc010zdf.1_Missense_Mutation_p.E647K	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	784					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)	TCAACATTTTCCACCCTGTTA	0.338000														59			20		0	0	0.014323	0	0
PAPPA2	60676	broad.mit.edu	37	1	176809389	176809389	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:176809389C>T	uc001gkz.3	+	21	6447	c.5283C>T	c.(5281-5283)tcC>tcT	p.S1761S	PAPPA2_uc009www.3_Non-coding_Transcript|PAPPA2_uc001gla.2_5'Flank	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1761					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						GCTGCTCTTCCACACTCTCCT	0.547000														59			41		0	0	0.009718	0	0
ZNFX1	57169	broad.mit.edu	37	20	47865894	47865894	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:47865894G>A	uc002xui.3	-	13	3914	c.3667C>T	c.(3667-3669)Cga>Tga	p.R1223*		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	1223							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTCTTGGCTCGGGACAAGGCC	0.507000														65			44		0	0	0.014410	0	0
abParts	0	broad.mit.edu	37	2	90458670	90458670	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:90458670C>T	uc010yts.2	+	43		c.5861_splice	c.e43+1							Parts of antibodies, mostly variable regions.																		CAGTACCCCTCCCACAGCGTT	0.517000														332			12		0	0	0.002450	0	0
HOXD10	3236	broad.mit.edu	37	2	176982161	176982161	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:176982161G>T	uc002ukj.3	+	0	670	c.600G>T	c.(598-600)aaG>aaT	p.K200N		NM_002148	NP_002139	P28358	HXD10_HUMAN	Homo sapiens homeobox D10 (HOXD10), mRNA.	200						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TGGAAAAGAAGATGAACGAGC	0.642000														37			9		0.000274275	0.000301476	0.004482	1	0
PSMC5	5705	broad.mit.edu	37	17	61908868	61908868	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:61908868C>T	uc002jcb.3	+	9	1053	c.972C>T	c.(970-972)gcC>gcT	p.A324A	PSMC5_uc010ddy.3_Silent_p.A301A|PSMC5_uc002jcd.3_Silent_p.A316A	NM_002805	NP_002796	P62195	PRS8_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 5 (PSMC5), transcript variant 1, mRNA.	324					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						ATCTCCAGGCCCGGCTGGACA	0.567000														64			32		0	0	0.013726	0	0
SLC44A5	204962	broad.mit.edu	37	1	75707705	75707705	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:75707705C>T	uc010oqz.1	-	7	696	c.630G>A	c.(628-630)gcG>gcA	p.A210A	SLC44A5_uc001dgt.2_Silent_p.A171A|SLC44A5_uc001dgs.2_Silent_p.A129A|SLC44A5_uc001dgr.2_Silent_p.A129A|SLC44A5_uc001dgu.3_Silent_p.A171A|SLC44A5_uc010ora.2_Silent_p.A165A|SLC44A5_uc010orb.2_Silent_p.A41A	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	171						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TGGGAAAAATCGCTGTTGGAC	0.353000														82			35		0	0	0.010771	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017356	93017356	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:93017356C>T	uc022axs.1	-	5	1092	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	RUNX1T1_uc003yfc.2_Missense_Mutation_p.R216Q|RUNX1T1_uc010mam.3_Missense_Mutation_p.R216Q|RUNX1T1_uc003yfe.2_Missense_Mutation_p.R206Q|RUNX1T1_uc003yfd.3_Missense_Mutation_p.R243Q|RUNX1T1_uc022axo.1_Missense_Mutation_p.R243Q|RUNX1T1_uc010mao.3_Missense_Mutation_p.R216Q|RUNX1T1_uc011lgi.2_Missense_Mutation_p.R254Q|RUNX1T1_uc022axp.1_Missense_Mutation_p.R243Q|RUNX1T1_uc022axq.1_Missense_Mutation_p.R243Q|RUNX1T1_uc022axr.1_Missense_Mutation_p.R243Q|RUNX1T1_uc022axt.1_Missense_Mutation_p.R243Q|RUNX1T1_uc022axu.1_Missense_Mutation_p.R223Q|RUNX1T1_uc022axv.1_Missense_Mutation_p.R243Q|RUNX1T1_uc003yfb.2_Missense_Mutation_p.R206Q|RUNX1T1_uc003yff.1_Missense_Mutation_p.R206Q	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	243					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R206Q(1)|p.R254Q(1)|p.R243L(1)|p.R243Q(1)|p.R254L(1)|p.R206L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTCTGGAGTTCGCCTCTTCCC	0.522000														94			33		0	0	0.004289	0	0
PGM2L1	283209	broad.mit.edu	37	11	74053589	74053589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:74053589G>A	uc001ovb.1	-	11	1845	c.1549C>T	c.(1549-1551)Cca>Tca	p.P517S		NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN	Homo sapiens phosphoglucomutase 2-like 1 (PGM2L1), mRNA.	517					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					CAAAATTTTGGATATTCTTTT	0.323000														30			58		0	0	0.014410	0	0
PABPC1L	80336	broad.mit.edu	37	20	43545459	43545459	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:43545459C>T	uc010ggv.1	+	2	532	c.450C>T	c.(448-450)gcC>gcT	p.A150A	PABPC1L_uc010zwq.1_Non-coding_Transcript	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1-like (PABPC1L), mRNA.	150	RRM 2.						RNA binding|nucleotide binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CCCATGAGGCCGCACAGCAGG	0.607000														135			36		0	0	0.006230	0	0
ABCA8	10351	broad.mit.edu	37	17	66878036	66878036	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:66878036G>A	uc002jhq.3	-	30	4254	c.3914C>T	c.(3913-3915)gCc>gTc	p.A1305V	ABCA8_uc002jhp.3_Missense_Mutation_p.A1265V|ABCA8_uc010wqq.2_Missense_Mutation_p.A1300V	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1265	ABC transporter 2.					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)					ATTTCTCGTGGCTATCTTATT	0.473000														59			46		0	0	0.010771	0	0
LUM	4060	broad.mit.edu	37	12	91502583	91502583	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:91502583C>T	uc001tbm.3	-	1	563	c.174G>A	c.(172-174)ttG>ttA	p.L58L		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	58	LRRNT.				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						GTACACTTTTCAATTTCAGCT	0.413000														42			11		0	0	0.001855	0	0
VWF	7450	broad.mit.edu	37	12	6173516	6173516	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:6173516G>A	uc001qnn.1	-	11	1578	c.1328C>T	c.(1327-1329)tCc>tTc	p.S443F	VWF_uc010set.1_Missense_Mutation_p.S443F	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	443	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GACGGTGACGGAGCGGGTGCA	0.642000														24			9		0	0	0.008291	0	0
FAT3	120114	broad.mit.edu	37	11	92565152	92565152	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:92565152G>A	uc001pdj.4	+	12	9863	c.9846G>A	c.(9844-9846)ggG>ggA	p.G3282G		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3282	Cadherin 30.				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)				ACGAACAAGGGAAATTTAAGA	0.483000										TCGA Ovarian(4;0.039)				58			14		0	0	0.002450	0	0
AGXT	189	broad.mit.edu	37	2	241813456	241813456	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:241813456C>T	uc002waa.4	+	5	778	c.657C>T	c.(655-657)ctC>ctT	p.L219L	AGXT_uc002wab.4_5'Flank	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	219					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GGACCTCGCTCATCTCCTTCA	0.647000														39			8		0	0	0.008291	0	0
DIO3	1735	broad.mit.edu	37	14	102028734	102028734	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:102028734C>T	uc021sdx.1	+	0	1047	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S	DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA.	275					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CGGCGCTCGGCCCCGGAGGGT	0.602000														28			15		0	0	0.003163	0	0
TSPYL5	85453	broad.mit.edu	37	8	98288900	98288900	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:98288900T>A	uc003yhy.3	-	0	1277	c.1173A>T	c.(1171-1173)aaA>aaT	p.K391N		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	Homo sapiens TSPY-like 5 (TSPYL5), mRNA.	391					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	p.E390D(3)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TTTCCTTTCCTTTCTCTACAC	0.498000														144			82		0	0	0.014410	0	0
ACVRL1	94	broad.mit.edu	37	12	52312866	52312866	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:52312866C>T	uc001rzj.3	+	8	1627	c.1344C>T	c.(1342-1344)acC>acT	p.T448T	ACVRL1_uc001rzk.3_Silent_p.T448T|ACVRL1_uc010snm.2_Silent_p.T274T	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	448	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	ATCAGCAGACCCCCACCATCC	0.602000														36			18		0	0	0.008871	0	0
HFM1	164045	broad.mit.edu	37	1	91740330	91740330	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:91740330C>T	uc001doa.4	-	32	3724	c.3625G>A	c.(3625-3627)Gag>Aag	p.E1209K	HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Missense_Mutation_p.E888K|HFM1_uc001dob.4_Missense_Mutation_p.E397K|HFM1_uc010osv.1_Missense_Mutation_p.E893K	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	1209							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AAACCAAACTCTTTAAGGTCC	0.303000														66			12		0	0	0.003163	0	0
TTN	7273	broad.mit.edu	37	2	179404460	179404460	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179404460C>T	uc021vsy.1	-	300	90853	c.90628G>A	c.(90628-90630)Gaa>Aaa	p.E30210K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E23905K|TTN_uc021vta.1_Missense_Mutation_p.E23838K|TTN_uc021vtb.1_Missense_Mutation_p.E23713K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31137	Fibronectin type-III 120.						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)			CATTTATTTTCCAGAACCAGG	0.463000														37			30		0	0	0.008361	0	0
AK309255	0	broad.mit.edu	37	15	28878836	28878836	+	RNA	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:28878836C>T	uc010aza.1	+	1		c.274C>T			AK309255_uc010azb.1_Non-coding_Transcript					Homo sapiens cDNA, FLJ97818.																		TTACACGCTTCCTATTTGGCA	0.453000														31			16		0	0	0.004990	0	0
MAP4	4134	broad.mit.edu	37	3	47917353	47917353	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:47917353G>A	uc003csb.2	-	9	2670	c.2144C>T	c.(2143-2145)tCg>tTg	p.S715L	MAP4_uc003csc.3_Missense_Mutation_p.S715L|MAP4_uc011bbf.1_Missense_Mutation_p.S692L|MAP4_uc003crx.2_5'UTR|MAP4_uc011bbe.1_Intron|MAP4_uc003csa.3_Missense_Mutation_p.S450L|MAP4_uc003crz.4_Non-coding_Transcript|MAP4_uc003csd.2_Missense_Mutation_p.S450L	NM_002375	NP_002366	P27816	MAP4_HUMAN	Homo sapiens microtubule-associated protein 4 (MAP4), transcript variant 1, mRNA.	715					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TTTGGCTTTCGATGTTGAAGT	0.423000														173			64		0	0	0.014410	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209218643	209218643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:209218643C>T	uc002vcz.3	+	39	6024	c.5866C>T	c.(5866-5868)Ctt>Ttt	p.L1956F		NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	1956	Catalytic.|PIPK.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GAAGGGCTCTCTTAGGAATCG	0.353000														34			27		0	0	0.005443	0	0
CNKSR3	154043	broad.mit.edu	37	6	154567864	154567864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:154567864G>A	uc021zhc.1	-	14	1995	c.1490C>T	c.(1489-1491)tCg>tTg	p.S497L	OPRM1_uc003qpt.1_Missense_Mutation_p.R401Q|CNKSR3_uc003qpw.3_Missense_Mutation_p.S36L|CNKSR3_uc003qpx.3_Missense_Mutation_p.S35L|CNKSR3_uc010kjh.3_Missense_Mutation_p.S36L|CNKSR3_uc021zhd.1_Missense_Mutation_p.S80L|CNKSR3_uc021zhe.1_Intron	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	0	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		ATCTTTACACGATATCCTCCT	0.403000														42			28		0	0	0.007291	0	0
SERPINI2	5276	broad.mit.edu	37	3	167189611	167189611	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:167189611G>A	uc003fes.1	-	1	113	c.42C>T	c.(40-42)atC>atT	p.I14I	SERPINI2_uc003fer.1_Silent_p.I4I|SERPINI2_uc003fet.1_Silent_p.I4I	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	4					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TCCACAAGAAGATTGTGTCCA	0.343000														88			55		0	0	0.014410	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324626	61324626	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:61324626G>A	uc002lji.3	-	5	634	c.490C>T	c.(490-492)Cct>Tct	p.P164S	SERPINB3_uc002ljg.3_Missense_Mutation_p.P164S|SERPINB3_uc010dqa.3_Missense_Mutation_p.P164S	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	164					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TTACCTTCAGGAATTAGGTTT	0.353000														39			31		0	0	0.012213	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228854	57228854	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:57228854G>A	uc010lyk.1	-	1	691	c.53C>T	c.(52-54)tCa>tTa	p.S18L	SDR16C5_uc003xsy.1_Missense_Mutation_p.S18L|SDR16C5_uc010lyl.1_Missense_Mutation_p.S18L	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	18					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						ACTAAACAGTGATTTTCCTAA	0.418000														50			18		0	0	0.010504	0	0
NGFR	4804	broad.mit.edu	37	17	47587845	47587845	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:47587845G>A	uc002ioz.4	+	3	765	c.640G>A	c.(640-642)Gag>Aag	p.E214K		NM_002507	NP_002498	P08138	TNR16_HUMAN	Homo sapiens nerve growth factor receptor (NGFR), mRNA.	214	Ser/Thr-rich.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CAGCACCCAGGAGCCTGAGGC	0.642000														53			25		0	0	0.003330	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189903	58189903	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:58189903C>T	uc002qpu.3	+	4	1629	c.932C>T	c.(931-933)tCa>tTa	p.S311L		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA.	311					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTCCAAAAATCATACAAATGT	0.473000														38			21		0	0	0.014323	0	0
GXYLT2	727936	broad.mit.edu	37	3	73004310	73004310	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:73004310C>A	uc003dpg.3	+	3	662	c.662C>A	c.(661-663)cCt>cAt	p.P221H		NM_001080393	NP_001073862	A0PJZ3	GXLT2_HUMAN	Homo sapiens glucoside xylosyltransferase 2 (GXYLT2), mRNA.	221					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						TTTCTGAGACCTGTTGATGAC	0.517000														32			17		2.23348e-06	2.46252e-06	0.004007	1	0
OR5P3	120066	broad.mit.edu	37	11	7846917	7846917	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:7846917G>A	uc010rbg.2	-	0	603	c.603C>T	c.(601-603)atC>atT	p.I201I		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	201					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)		ATCCAGAAGAGATAGCTGGAA	0.423000														36			21		0	0	0.010504	0	0
SNAP91	9892	broad.mit.edu	37	6	84270612	84270612	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:84270612C>T	uc021zcf.1	-	25	2527	c.2497G>A	c.(2497-2499)Gtt>Att	p.V833I	SNAP91_uc011dzd.2_Missense_Mutation_p.V331I|SNAP91_uc003pka.3_Missense_Mutation_p.V831I|SNAP91_uc011dze.2_Missense_Mutation_p.V831I|SNAP91_uc003pkc.3_Missense_Mutation_p.V803I|SNAP91_uc003pkd.3_Missense_Mutation_p.V526I|SNAP91_uc003pkb.3_Missense_Mutation_p.V742I	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	833	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GGTTGTCCAACCGATGGGGCC	0.418000														34			16		0	0	0.006122	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921472	12921472	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:12921472C>T	uc001aum.1	+	3	1350	c.1263C>T	c.(1261-1263)tcC>tcT	p.S421S		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	421										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTTTGAATTCCTTGGTTCGTG	0.547000														124			5		0	0	0.002780	0	0
MUC16	94025	broad.mit.edu	37	19	9027222	9027222	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9027222G>A	uc002mkp.3	-	12	36868	c.36664C>T	c.(36664-36666)Ccc>Tcc	p.P12222S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12224					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						TTACTCGTGGGGCTGGGGCTG	0.478000														14			5		0	0	0.001168	0	0
ZNF491	126069	broad.mit.edu	37	19	11917700	11917700	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:11917700C>T	uc002mso.1	+	2	1217	c.932C>T	c.(931-933)tCc>tTc	p.S311F	ZNF491_uc021upj.1_Missense_Mutation_p.S311F	NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	Homo sapiens zinc finger protein 491 (ZNF491), mRNA.	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						TTCACTTGTTCCACTTCGTTT	0.433000														8			16		0	0	0.003163	0	0
MCM10	55388	broad.mit.edu	37	10	13214476	13214476	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:13214476C>T	uc001ima.3	+	3	578	c.450C>T	c.(448-450)tcC>tcT	p.S150S	MCM10_uc001imb.3_Silent_p.S150S|MCM10_uc001imc.3_Silent_p.S150S	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	150					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TGCAAAAATCCCCTGGTAAGA	0.403000														34			36		0	0	0.003271	0	0
CLDN6	9074	broad.mit.edu	37	16	3065567	3065567	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:3065567C>T	uc021tbb.1	-	0	456	c.456G>A	c.(454-456)gtG>gtA	p.V152V	CLDN6_uc002csu.4_Silent_p.V152V	NM_021195	NP_067018	P56747	CLD6_HUMAN	Homo sapiens claudin 6 (CLDN6), mRNA.	152					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GGGCCTCAGCCACCAGGGGGT	0.622000														10			7		0	0	0.001984	0	0
CD93	22918	broad.mit.edu	37	20	23064978	23064979	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:23064978_23064979CC>TT	uc002wsv.3	-	0	1999_2000	c.1851_1852GG>AA	c.(1849-1854)aaggag>aaAAag	p.E618K		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	618					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)					GGCTTCTTCTCCTTCTTCTCCT	0.594000														110			57		0	0	0.004672	0	0
CXCR1	3577	broad.mit.edu	37	2	219029056	219029056	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:219029056C>T	uc021vwq.1	-	0	879	c.879G>A	c.(877-879)ctG>ctA	p.L293L	CXCR1_uc002vhc.3_Silent_p.L293L|HV303425_uc021vwr.1_5'Flank	NM_000634	NP_000625	P25024	CXCR1_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.	293					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						GGAGAAATCCCAGAATCTCAG	0.567000														43			29		0	0	0.008361	0	0
ATP6V1H	51606	broad.mit.edu	37	8	54628550	54628550	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:54628550G>C	uc003xrl.3	-	13	1578	c.1426C>G	c.(1426-1428)Ccc>Gcc	p.P476A	ATP6V1H_uc003xrk.3_Missense_Mutation_p.P436A|ATP6V1H_uc003xrm.3_Missense_Mutation_p.P476A|ATP6V1H_uc003xrn.3_Missense_Mutation_p.P458A|ATP6V1H_uc011ldv.2_Missense_Mutation_p.P396A|ATP6V1H_uc010lyd.3_Missense_Mutation_p.P412A	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H (ATP6V1H), transcript variant 3, mRNA.	476					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			GCGGTCTGGGGCTGCTCGGAC	0.493000														29			20		0	0	0.012319	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95483152	95483152	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:95483152C>T	uc010fhq.2	-	0	395	c.3G>A	c.(1-3)atG>atA	p.M1I	ANKRD20A2_uc010fhp.3_Intron	NM_001012421	NP_001012421	Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A2 (ANKRD20A2), mRNA.	0										large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						ATAAAGAGTTCATCCTGTGAT	0.264000														6			3		0	0	0.004672	0	0
C10orf120	399814	broad.mit.edu	37	10	124457272	124457272	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:124457272T>C	uc001lgn.3	-	2	1017	c.985A>G	c.(985-987)Aaa>Gaa	p.K329E		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	329										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GGAGTTGCTTTACGCATGCGC	0.453000														39			32		0	0	0.003755	0	0
CPM	1368	broad.mit.edu	37	12	69279631	69279631	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:69279631T>C	uc001sup.3	-	2	260	c.199A>G	c.(199-201)Aag>Gag	p.K67E	CPM_uc001sur.3_Missense_Mutation_p.K67E|CPM_uc001suq.3_Missense_Mutation_p.K67E	NM_198320	NP_938079	P14384	CBPM_HUMAN	Homo sapiens carboxypeptidase M (CPM), transcript variant 2, mRNA.	67					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CTGTGTTCCTTTGGAAACCGC	0.403000														89			52		0	0	0.014410	0	0
FAM135A	57579	broad.mit.edu	37	6	71185130	71185130	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:71185130C>T	uc003pfj.3	+	3	308	c.175C>T	c.(175-177)Cca>Tca	p.P59S	FAM135A_uc003pfi.3_Missense_Mutation_p.P59S|FAM135A_uc003pfh.3_Intron|FAM135A_uc003pfk.3_Missense_Mutation_p.P59S|FAM135A_uc003pfl.3_5'UTR	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	59										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TTTAGCCTTTCCAGCCTCAGT	0.269000														10			6		0	0	0.001984	0	0
GPR75	10936	broad.mit.edu	37	2	54081724	54081724	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:54081724G>A	uc021vhn.1	-	0	170	c.170C>T	c.(169-171)tCc>tTc	p.S57F	GPR75-ASB3_uc002rxi.4_Intron|GPR75_uc002rxo.3_Missense_Mutation_p.S57F	NM_006794	NP_006785	O95800	GPR75_HUMAN	Homo sapiens G protein-coupled receptor 75 (GPR75), mRNA.	57						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTTGCCATAGGAACCCAGGCA	0.488000														18			18		0	0	0.004990	0	0
DKK3	27122	broad.mit.edu	37	11	11986121	11986121	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:11986121C>T	uc010rcg.1	-	7	1143	c.985G>A	c.(985-987)Gag>Aag	p.E329K	DKK3_uc010rcf.2_Missense_Mutation_p.E287K|DKK3_uc001mju.3_Missense_Mutation_p.E315K|DKK3_uc001mjv.3_Missense_Mutation_p.E315K|DKK3_uc001mjw.3_Missense_Mutation_p.E315K	NM_015881	NP_056965	Q9UBP4	DKK3_HUMAN	Homo sapiens dickkopf 3 homolog (Xenopus laevis) (DKK3), transcript variant 1, mRNA.	315					Wnt receptor signaling pathway|adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent	extracellular space				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		CGCACCTCCTCCATGAAGCTG	0.637000														51			47		0	0	0.010771	0	0
ATRX	546	broad.mit.edu	37	X	76931741	76931741	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:76931741G>T	uc004ecp.4	-	9	4021	c.3789C>A	c.(3787-3789)gaC>gaA	p.D1263E	ATRX_uc004ecq.4_Missense_Mutation_p.D1225E|ATRX_uc004eco.4_Missense_Mutation_p.D1048E|ATRX_uc004ecr.2_Missense_Mutation_p.D1195E	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1263	Poly-Asp.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GATCATTGTCGTCATCATCAT	0.383000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							6			20		3.01185e-09	3.33196e-09	0.003954	1	0
TTN	7273	broad.mit.edu	37	2	179665398	179665398	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179665398G>A	uc021vsy.1	-	3	532	c.307C>T	c.(307-309)Cca>Tca	p.P103S	TTN_uc021vsz.1_Missense_Mutation_p.P103S|TTN_uc021vta.1_Missense_Mutation_p.P103S|TTN_uc021vtb.1_Missense_Mutation_p.P103S|TTN_uc002unb.2_Missense_Mutation_p.P103S|TTN_uc002und.3_Missense_Mutation_p.P103S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	103							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)			AAGTTGGGTGGTGCTGTCTCA	0.493000														83			14		0	0	0.002450	0	0
TINAG	27283	broad.mit.edu	37	6	54173634	54173634	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:54173634C>T	uc003pcj.2	+	0	432	c.286C>T	c.(286-288)Cct>Tct	p.P96S	TINAG_uc003pci.3_Missense_Mutation_p.P96S|TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	96	SMB.				Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TGATTGCTGTCCTGACTACAA	0.453000														84			47		0	0	0.014410	0	0
SULT1C4	27233	broad.mit.edu	37	2	109002778	109002778	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:109002778C>T	uc002tea.1	+	5	1119	c.746C>T	c.(745-747)tCg>tTg	p.S249L	SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Missense_Mutation_p.S174L	NM_006588	NP_006579	O75897	ST1C4_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA.	249					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						AACTATTCATCGATTCCTGCT	0.303000														64			22		0	0	0.005443	0	0
NFE2	4778	broad.mit.edu	37	12	54686323	54686323	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:54686323C>T	uc009znk.3	-	1	1467	c.957G>A	c.(955-957)ctG>ctA	p.L319L	NFE2_uc001sfq.3_Silent_p.L319L|NFE2_uc001sfr.4_Silent_p.L319L|NFE2_uc009znl.3_Silent_p.L319L	NM_006163	NP_006154	Q16621	NFE2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2), 45kDa (NFE2), transcript variant 1, mRNA.	319	Leucine-zipper.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	PML body|actin cytoskeleton|cytoplasm	WW domain binding|protein N-terminus binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GCATGACCTCCAGGGTCCGGT	0.612000														37			22		0	0	0.002780	0	0
ZNF436	80818	broad.mit.edu	37	1	23688594	23688594	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:23688594G>A	uc001bgt.3	-	2	1662	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	ZNF436_uc001bgu.3_Silent_p.F427F	NM_030634	NP_085137	Q9C0F3	ZN436_HUMAN	Homo sapiens zinc finger protein 436 (ZNF436), transcript variant 2, mRNA.	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGCTCTGGGTGAAACCTTTCC	0.483000														82			52		0	0	0.014410	0	0
DPYD	1806	broad.mit.edu	37	1	98039412	98039412	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:98039412C>T	uc001drv.3	-	10	1380	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	415					'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)	TTTCCAGTTTCATCTTGCTCT	0.438000														68			34		0	0	0.013726	0	0
USP44	84101	broad.mit.edu	37	12	95914825	95914825	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:95914825C>T	uc001teg.3	-	4	2031	c.1887G>A	c.(1885-1887)ggG>ggA	p.G629G	USP44_uc001teh.3_Silent_p.G629G|USP44_uc009zte.3_Silent_p.G626G	NM_001042403	NP_115523	Q9H0E7	UBP44_HUMAN	Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA.	629					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						CAAATCCTTTCCCATGGTGCA	0.458000														78			52		0	0	0.014410	0	0
LILRP2	79166	broad.mit.edu	37	19	55220652	55220652	+	RNA	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:55220652C>T	uc002qgs.1	+	0		c.1052C>T			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		CAGCGAGCCCCTGGAGCTGGT	0.592000														16			9		0	0	0.010729	0	0
CACNA1E	777	broad.mit.edu	37	1	181767550	181767550	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:181767550C>T	uc009wxt.3	+	47	6717	c.6522C>T	c.(6520-6522)tcC>tcT	p.S2174S	CACNA1E_uc001gow.3_Silent_p.S2131S|CACNA1E_uc009wxs.3_Silent_p.S2112S	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2174					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTACAGCTCCCTGATTCGAC	0.632000														64			31		0	0	0.010818	0	0
GRIN2A	2903	broad.mit.edu	37	16	9892299	9892299	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:9892299C>T	uc010uym.2	-	11	2501	c.2191G>A	c.(2191-2193)Gat>Aat	p.D731N	GRIN2A_uc002czo.4_Missense_Mutation_p.D731N|GRIN2A_uc010uyn.2_Missense_Mutation_p.D574N|GRIN2A_uc002czr.4_Missense_Mutation_p.D731N	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	731					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACTGCGGCATCGTAGATGAAA	0.562000														37			10		0	0	0.013537	0	0
PKD1L2	114780	broad.mit.edu	37	16	81142880	81142880	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:81142880C>T	uc002fgh.1	-	42	6999	c.6999G>A	c.(6997-6999)tgG>tgA	p.W2333*	PKD1L2_uc002fgf.1_Nonsense_Mutation_p.W135*|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	2335					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AACGGAGTTTCCAACCAAATA	0.517000														10			4		0	0	0.009096	0	0
CUL7	9820	broad.mit.edu	37	6	43019452	43019452	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:43019452C>T	uc003otq.3	-	2	962	c.630G>A	c.(628-630)gaG>gaA	p.E210E	CUL7_uc011dvb.2_Silent_p.E294E|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA.	210					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	p.E210D(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCAGGTGTTTCTCAATGGCTT	0.532000														104			59		0	0	0.014410	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21548835	21548835	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:21548835C>T	uc001vzp.3	+	11	2419	c.2390C>T	c.(2389-2391)tCg>tTg	p.S797L	ARHGEF40_uc001vzo.1_5'UTR|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_Missense_Mutation_p.S83L	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA.	797					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CAGTGGCTCTCGGGCCCAGGG	0.632000														30			15		0	0	0.004007	0	0
UGT2A1	10941	broad.mit.edu	37	4	70504957	70504957	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:70504957G>A	uc011caq.2	-	2	1121	c.1005C>T	c.(1003-1005)ctC>ctT	p.L335L	UGT2A1_uc010ihu.3_Intron|UGT2A1_uc003hem.4_Intron|UGT2A1_uc010ihs.3_Silent_p.L134L|UGT2A1_uc021xox.1_Silent_p.L134L|UGT2A1_uc010iht.3_Intron	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	125					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CACCATCACAGAGTTGTATGT	0.403000														50			36		0	0	0.003271	0	0
CYP2C19	1557	broad.mit.edu	37	10	96484201	96484201	+	Missense_Mutation	SNP	G	A	A	rs142667327		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:96484201G>A	uc001kjv.4	+	6	1386	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	CYP2C19_uc001kjw.4_Missense_Mutation_p.E295K|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.	354					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)	TGTGGTGCACGAGATCCAGAG	0.498000														53			65		0	0	0.014410	0	0
CUBN	8029	broad.mit.edu	37	10	16877024	16877024	+	Missense_Mutation	SNP	C	T	T	rs145661638		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:16877024C>T	uc001ioo.3	-	63	10403	c.10351G>A	c.(10351-10353)Gat>Aat	p.D3451N		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	3451	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCCAAGAAATCGTTTCTGCAT	0.388000														21			5		0	0	0.000602	0	0
PARD3	56288	broad.mit.edu	37	10	34649112	34649112	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:34649112C>T	uc010qej.2	-	12	2113	c.1783G>A	c.(1783-1785)Gat>Aat	p.D595N	PARD3_uc010qep.2_Missense_Mutation_p.D538N|PARD3_uc010qeq.2_Missense_Mutation_p.D538N|PARD3_uc010qek.2_Missense_Mutation_p.D595N|PARD3_uc010qel.2_Missense_Mutation_p.D595N|PARD3_uc010qem.2_Missense_Mutation_p.D582N|PARD3_uc010qen.2_Missense_Mutation_p.D582N|PARD3_uc010qeo.2_Missense_Mutation_p.D582N|PARD3_uc001ixo.2_Missense_Mutation_p.D312N|PARD3_uc001ixr.2_Missense_Mutation_p.D595N|PARD3_uc001ixq.2_Missense_Mutation_p.D582N|PARD3_uc001ixp.2_Missense_Mutation_p.D595N|PARD3_uc001ixt.1_Missense_Mutation_p.D416N|PARD3_uc001ixu.2_Missense_Mutation_p.D538N|PARD3_uc001ixs.1_Missense_Mutation_p.D248N	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	595	PDZ 3.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GATCCTGAATCATTAAGTGGG	0.428000														57			19		0	0	0.008871	0	0
SETD2	29072	broad.mit.edu	37	3	47158225	47158225	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:47158225G>A	uc003cqv.3	-	3	4527	c.4441C>T	c.(4441-4443)Cga>Tga	p.R1481*	SETD2_uc003cqs.3_Nonsense_Mutation_p.R1492*	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.R989*(2)|p.R1492*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTAATATCTCGATGAGATTTA	0.313000			"""N, F, S, Mis"""		clear cell renal carcinoma									36			22		0	0	0.014323	0	0
PKM2	5315	broad.mit.edu	37	15	72502030	72502030	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:72502030G>A	uc002aty.2	-	4	833	c.549C>T	c.(547-549)ctC>ctT	p.L183L	PKM2_uc010bit.1_Silent_p.L188L|PKM2_uc010uki.2_Silent_p.L257L|PKM2_uc002atx.2_Silent_p.L183L|PKM2_uc002atw.2_Silent_p.L183L|PKM2_uc010ukj.2_Silent_p.L168L|PKM2_uc010ukk.2_Silent_p.L109L|PKM2_uc002atv.2_Silent_p.L218L|PKM2_uc010biu.1_Silent_p.L204L	NM_002654	NP_002645	P14618	KPYM_HUMAN	Homo sapiens pyruvate kinase, muscle (PKM2), transcript variant 1, mRNA.	183					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)	GCTTCACCTGGAGAGAAATAA	0.473000														131			69		0	0	0.014410	0	0
MRPL2	51069	broad.mit.edu	37	6	43024063	43024063	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:43024063A>C	uc003ots.1	-	2	509	c.386T>G	c.(385-387)gTc>gGc	p.V129G	CUL7_uc003otq.3_5'Flank|CUL7_uc011dvb.2_5'Flank|KLC4_uc003otr.1_Intron|MRPL2_uc011dvc.2_Missense_Mutation_p.V129G	NM_015950	NP_057034	Q5T653	RM02_HUMAN	Homo sapiens mitochondrial ribosomal protein L2 (MRPL2), nuclear gene encoding mitochondrial protein, mRNA.	129					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		ATCATAGCGGACTTGGATAAC	0.507000														65			29		0	0	0.008361	0	0
FLG	2312	broad.mit.edu	37	1	152286887	152286887	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:152286887T>A	uc001ezu.1	-	2	511	c.475A>T	c.(475-477)Aaa>Taa	p.K159*	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	159					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)			TTTCTTTCTTTTTTTTCAGAA	0.348000									Ichthyosis					65			36		0	0	0.004289	0	0
SEMA3B	7869	broad.mit.edu	37	3	50313183	50313183	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:50313183G>A	uc003cyu.3	+	17	1992	c.1750G>A	c.(1750-1752)Ggc>Agc	p.G584S	SEMA3B_uc003cyt.3_Missense_Mutation_p.G583S|SEMA3B_uc003cyv.3_Missense_Mutation_p.G472S|SEMA3B_uc003cyw.3_Missense_Mutation_p.G308S|SEMA3B_uc010hli.3_Missense_Mutation_p.G477S|SEMA3B_uc003cyx.3_Missense_Mutation_p.G471S|SEMA3B_uc003cyy.3_Missense_Mutation_p.G242S|SEMA3B_uc011bdo.2_Missense_Mutation_p.G242S	NM_004636	NP_004627	Q13214	SEM3B_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B (SEMA3B), transcript variant 1, mRNA.	585	Ig-like C2-type.				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CGGCGTGGAGGGCAGCAGCGC	0.652000														24			10		0	0	0.008291	0	0
NTSR1	4923	broad.mit.edu	37	20	61391602	61391602	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:61391602C>T	uc002ydf.3	+	3	1611	c.1240C>T	c.(1240-1242)Cgc>Tgc	p.R414C		NM_002531	NP_002522	P30989	NTR1_HUMAN	Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.	414						Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	p.T413T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CAATGCCACCCGCGAGACGCT	0.687000														24			17		0	0	0.006122	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261747	39261747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:39261747G>A	uc010wfp.2	+	0	107	c.107G>A	c.(106-108)aGg>aAg	p.R36K		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	36	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						ACCTGCTGCAGGACCACCTGC	0.657000														26			22		0	0	0.010504	0	0
ALAD	210	broad.mit.edu	37	9	116154442	116154442	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:116154442G>A	uc011lxf.2	-	2	323	c.121C>T	c.(121-123)Cct>Tct	p.P41S	ALAD_uc011lxe.2_Intron|ALAD_uc004bhl.4_Missense_Mutation_p.P70S	NM_000031	NP_000022	P13716	HEM2_HUMAN	Homo sapiens aminolevulinate dehydratase (ALAD), mRNA.	41					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	ATGTCATCAGGAACATCCCTG	0.612000														13			15		0	0	0.003163	0	0
CYP2A7	1549	broad.mit.edu	37	19	41383100	41383100	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:41383100G>A	uc002opm.3	-	6	1698	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	CYP2A7_uc002opo.3_Missense_Mutation_p.P386S|CYP2A7_uc002opn.3_Missense_Mutation_p.P335S	NM_000764	NP_000755	P20853	CP2A7_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 7 (CYP2A7), transcript variant 1, mRNA.	386						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGCACCTTAGGGAGGAAAAAA	0.532000														53			31		0	0	0.009535	0	0
OR10K2	391107	broad.mit.edu	37	1	158389972	158389972	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:158389972G>A	uc010pii.2	-	0	685	c.685C>T	c.(685-687)Cct>Tct	p.P229S		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	229					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)					AGTGTGGAAGGAAACTGAAGT	0.448000														59			25		0	0	0.004656	0	0
FBN2	2201	broad.mit.edu	37	5	127664510	127664510	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:127664510A>G	uc003kuu.3	-	33	4788	c.4349T>C	c.(4348-4350)gTt>gCt	p.V1450A	FBN2_uc003kuv.2_Missense_Mutation_p.V1417A	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1450	EGF-like 24; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACACTCATCAACATCTGTGCA	0.423000														11			19		0	0	0.010504	0	0
OR51I1	390063	broad.mit.edu	37	11	5462089	5462089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:5462089G>A	uc010qze.2	-	0	695	c.656C>T	c.(655-657)tCc>tTc	p.S219F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L218P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAATGCGTAGGAAAGCAGGAT	0.473000														16			13		0	0	0.013537	0	0
CECR2	27443	broad.mit.edu	37	22	18028131	18028131	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:18028131C>T	uc010gqw.1	+	15	3082	c.3082C>T	c.(3082-3084)Cta>Tta	p.L1028L	CECR2_uc010gqv.1_Silent_p.L888L|CECR2_uc002zml.2_Silent_p.L889L|CECR2_uc002zmo.2_Non-coding_Transcript	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	1072					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CAGGGGCGCTCTATCCGAGAA	0.622000														26			8		0	0	0.004482	0	0
PABPC5	140886	broad.mit.edu	37	X	90691564	90691564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:90691564C>T	uc022bzs.1	+	0	988	c.988C>T	c.(988-990)Cgg>Tgg	p.R330W	PABPC5_uc004efg.3_Missense_Mutation_p.R330W	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 5 (PABPC5), mRNA.	330	RRM 4.					cytoplasm	RNA binding|nucleotide binding	p.S329C(1)|p.R330L(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GTCAATTAGTCGGGCCAAAGT	0.453000														10			31		0	0	0.012213	0	0
IGSF5	150084	broad.mit.edu	37	21	41151063	41151063	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr21:41151063G>A	uc002yyo.3	+	4	868	c.765G>A	c.(763-765)ccG>ccA	p.P255P		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	Homo sapiens immunoglobulin superfamily, member 5 (IGSF5), mRNA.	255						integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				CAAGTTTACCGAGTTTAGGTT	0.413000														18			34		0	0	0.004878	0	0
CYLC1	1538	broad.mit.edu	37	X	83128722	83128722	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:83128722G>A	uc004eei.1	+	3	1027	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K	CYLC1_uc004eeh.1_Missense_Mutation_p.E335K	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	336					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	p.S336C(1)|p.S336T(1)		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						TACTGATGCTGAATCTGGAGA	0.343000														11			8		0	0	0.003080	0	0
C20orf132	140699	broad.mit.edu	37	20	35749321	35749321	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:35749321C>T	uc010zvu.2	-	16	2186	c.2095G>A	c.(2095-2097)Gga>Aga	p.G699R	C20orf132_uc002xgk.3_Missense_Mutation_p.G331R	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	0										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				AGAAATAGTCCCTGAAGATGG	0.433000														42			14		0	0	0.004990	0	0
ODZ2	57451	broad.mit.edu	37	5	167674649	167674649	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:167674649G>A	uc010jjd.3	+	26	6678	c.6678G>A	c.(6676-6678)ctG>ctA	p.L2226L	ODZ2_uc003lzr.4_Silent_p.L1996L|ODZ2_uc003lzt.4_Silent_p.L1599L|ODZ2_uc010jje.3_Silent_p.L1490L	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TCCACTTACTGAACCCAGGCA	0.572000														15			13		0	0	0.001855	0	0
TP53	7157	broad.mit.edu	37	17	7578400	7578400	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:7578400G>A	uc002gim.2	-	4	724	c.530C>T	c.(529-531)cCc>cTc	p.P177L	TP53_uc002gig.1_Missense_Mutation_p.P177L|TP53_uc002gih.3_Missense_Mutation_p.P177L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P45L|TP53_uc010cnf.1_Missense_Mutation_p.P45L|TP53_uc002gii.1_Missense_Mutation_p.P45L|TP53_uc010cni.1_Missense_Mutation_p.P177L|TP53_uc010cnh.1_Missense_Mutation_p.P177L|TP53_uc002gij.2_Missense_Mutation_p.P177L|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.P84L|TP53_uc002gio.2_Missense_Mutation_p.P45L|TP53_uc010vug.2_Missense_Mutation_p.P138L	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	177	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C176F(112)|p.C176Y(59)|p.P177L(34)|p.P177R(34)|p.C176S(19)|p.P177_C182delPHHERC(16)|p.C176R(12)|p.C176W(11)|p.P177P(10)|p.0?(8)|p.C176*(8)|p.P177S(8)|p.C176fs*71(7)|p.C176_R181delCPHHER(6)|p.P177H(6)|p.R175_E180delRCPHHE(6)|p.C176G(4)|p.P177fs*3(4)|p.R174fs*24(3)|p.C176fs*5(3)|p.C176fs*65(2)|p.C176_P177delCP(2)|p.C176fs*68(2)|p.P177_H179delPHH(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.P177fs*69(2)|p.R175_H178>X(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.P177I(2)|p.P177_E180delPHHE(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.P177fs*4(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.P177_C182del(1)|p.C176fs*6(1)|p.C176del(1)|p.P45R(1)|p.R81fs*24(1)|p.R42fs*24(1)|p.P84R(1)|p.R174fs*3(1)|p.P177T(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTCATGGTGGGGGCAGCGCCT	0.647000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				19			24		0	0	0.004656	0	0
CSMD2	114784	broad.mit.edu	37	1	34258122	34258122	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:34258122G>A	uc001bxm.1	-	10	1629	c.1452C>T	c.(1450-1452)atC>atT	p.I484I	CSMD2_uc001bxn.1_Silent_p.I444I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	444	CUB 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGGCGAGCTTGATCACCTAGG	0.537000														29			17		0	0	0.004007	0	0
MUC17	140453	broad.mit.edu	37	7	100685708	100685708	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:100685708C>T	uc003uxp.1	+	2	11064	c.11011C>T	c.(11011-11013)Caa>Taa	p.Q3671*	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3671	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)					CACTTCTACCCAAGTCAGTTC	0.507000														92			58		0	0	0.014410	0	0
SCN1A	6323	broad.mit.edu	37	2	166848838	166848838	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:166848838C>T	uc002udo.4	-	27	5174	c.4947G>A	c.(4945-4947)ctG>ctA	p.L1649L	SCN1A_uc010fpk.3_Silent_p.L1621L|SCN1A_uc021vsb.1_Silent_p.L1638L	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1649			L -> Q (in FHM3).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CTCCTTTGATCAGACGTAGGA	0.488000														47			39		0	0	0.007835	0	0
ATXN2L	11273	broad.mit.edu	37	16	28844625	28844625	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:28844625C>T	uc002dqy.3	+	13	2072	c.1905C>T	c.(1903-1905)ccC>ccT	p.P635P	NPIPL1_uc010vct.2_Intron|ATXN2L_uc010byl.1_Silent_p.P611P|ATXN2L_uc002dqz.3_Silent_p.P635P|ATXN2L_uc002dra.3_Silent_p.P635P|ATXN2L_uc002drb.3_Silent_p.P635P|ATXN2L_uc002drc.3_Silent_p.P635P|ATXN2L_uc010vdb.2_Silent_p.P641P|ATXN2L_uc002dre.3_Silent_p.P635P|ATXN2L_uc002drf.3_Silent_p.P44P|ATXN2L_uc002drg.3_5'Flank	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	635						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CTGGCAGCCCCCCGGTGGGCC	0.632000														38			13		0	0	0.001855	0	0
NRXN3	9369	broad.mit.edu	37	14	79181112	79181112	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:79181112G>A	uc001xun.3	+	4	1046	c.555G>A	c.(553-555)gtG>gtA	p.V185V	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Silent_p.V319V	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	189	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTATATCAGTGAACAGCAGGC	0.572000														101			29		0	0	0.003271	0	0
MYPN	84665	broad.mit.edu	37	10	69966578	69966578	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:69966578G>A	uc001jnm.4	+	19	3896	c.3711G>A	c.(3709-3711)aaG>aaA	p.K1237K	MYPN_uc001jnn.4_Silent_p.K962K|MYPN_uc001jno.4_Silent_p.K1237K|MYPN_uc009xpt.3_Silent_p.K1237K|MYPN_uc010qit.2_Silent_p.K943K|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	1237	Ig-like 5.|Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGCCAGCCAAGAAATCAGACG	0.478000														93			23		0	0	0.003954	0	0
ACRBP	84519	broad.mit.edu	37	12	6752722	6752722	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:6752722G>A	uc001qpu.1	-	5	1108	c.1060C>T	c.(1060-1062)Ctt>Ttt	p.L354F	ACRBP_uc010sfg.1_Missense_Mutation_p.L321F	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	Homo sapiens acrosin binding protein (ACRBP), mRNA.	354						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CCGAAACCAAGGATCTCCTCC	0.552000														54			35		0	0	0.004289	0	0
RYR2	6262	broad.mit.edu	37	1	237881821	237881821	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:237881821G>A	uc001hyl.1	+	73	10674	c.10554_splice	c.e73+1	p.K3518_splice	RYR2_uc010pxz.1_Splice_Site_p.K473_splice	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3518					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TACAAGGCAAGGTAAGCCAAA	0.294000														30			18		0	0	0.008871	0	0
SLC7A1	6541	broad.mit.edu	37	13	30088716	30088716	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:30088716G>A	uc001uso.3	-	12	2178	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F		NM_003045	NP_003036	P30825	CTR1_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 (SLC7A1), mRNA.	597					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGTAGATGATGAAGCCTGCGG	0.637000														13			6		0	0	0.001168	0	0
abParts	0	broad.mit.edu	37	14	107160090	107160090	+	RNA	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:107160090C>T	uc021ser.1	-	50		c.3060G>A								Parts of antibodies, mostly variable regions.																		ATCCGGAAGCCTTGCAGGAGA	0.562000														40			11		0	0	0.001855	0	0
PNMAL1	55228	broad.mit.edu	37	19	46974164	46974164	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:46974164C>A	uc002peq.4	-	1	435	c.129G>T	c.(127-129)ttG>ttT	p.L43F	PNMAL1_uc002per.4_Missense_Mutation_p.L43F	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	Homo sapiens PNMA-like 1 (PNMAL1), transcript variant 1, mRNA.	43										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		ggaccccattcaaggtctcct	0.542000														45			27		3.01185e-09	3.33196e-09	0.003954	1	0
MGAT3	4248	broad.mit.edu	37	22	39884672	39884672	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:39884672C>T	uc003axv.4	+	1	1559	c.1320C>T	c.(1318-1320)ttC>ttT	p.F440F	MGAT3_uc010gxy.3_Silent_p.F440F	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	440					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					ATGGCGACTTCCCACGCTGGG	0.672000														30			14		0	0	0.003163	0	0
ZFX	7543	broad.mit.edu	37	X	24228474	24228474	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:24228474A>T	uc011mjv.2	+	9	1765	c.1516A>T	c.(1516-1518)Aag>Tag	p.K506*	ZFX_uc004dbd.2_Nonsense_Mutation_p.K467*|ZFX_uc004dbf.3_Nonsense_Mutation_p.K467*|ZFX_uc004dbe.3_3'UTR|ZFX_uc022bua.1_Nonsense_Mutation_p.K467*|ZFX_uc010nfx.2_Nonsense_Mutation_p.K238*|ZFX_uc010nfz.3_Nonsense_Mutation_p.K123*	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	467					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						CACTACCAACAAGAAGATAAG	0.453000														6			37		0	0	0.004289	0	0
DLGAP2	9228	broad.mit.edu	37	8	1616562	1616562	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:1616562G>A	uc003wpl.3	+	5	1735	c.1638G>A	c.(1636-1638)ctG>ctA	p.L546L	DLGAP2_uc003wpm.3_Silent_p.L546L	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	625					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCAAGCCTCTGATCTCGGTGA	0.612000														9			4		0	0	0.009096	0	0
LILRB4	11006	broad.mit.edu	37	19	55176615	55176615	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:55176615G>A	uc002qgp.3	+	5	1103	c.741G>A	c.(739-741)ggG>ggA	p.G247G	LILRB4_uc002qgq.3_Silent_p.G247G|LILRB4_uc010ers.1_3'UTR|LILRB4_uc010ert.3_Silent_p.G288G|LILRB4_uc010eru.3_Silent_p.G276G	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	247						integral to membrane|plasma membrane	antigen binding|receptor activity	p.G247R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TGCCTACAGGGTCAGTCCCCC	0.647000														24			12		0	0	0.002450	0	0
SLIT2	9353	broad.mit.edu	37	4	20611720	20611720	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:20611720G>A	uc003gpr.1	+	33	3981	c.3777G>A	c.(3775-3777)ggG>ggA	p.G1259G	SLIT2_uc003gps.1_Silent_p.G1251G	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1259	Laminin G-like.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGGATGGTGGGAACCCCAAAA	0.438000														50			24		0	0	0.002780	0	0
MGAM	8972	broad.mit.edu	37	7	141794620	141794620	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:141794620C>T	uc003vwy.3	+	39	4781	c.4727C>T	c.(4726-4728)gCc>gTc	p.A1576V		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1576	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGCTGGGGGCCTTTTACCCC	0.493000														45			21		0	0	0.003330	0	0
CASZ1	54897	broad.mit.edu	37	1	10713736	10713736	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:10713736G>A	uc001aro.3	-	10	2698	c.2378C>T	c.(2377-2379)tCg>tTg	p.S793L	CASZ1_uc001arp.1_Missense_Mutation_p.S793L|CASZ1_uc009vmx.2_Missense_Mutation_p.S817L	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	793					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGGCAGGCCCGAGTTGGAGAG	0.701000														36			21		0	0	0.004656	0	0
ZBTB2	57621	broad.mit.edu	37	6	151686700	151686700	+	Silent	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:151686700A>G	uc003qoh.3	-	2	1636	c.1501T>C	c.(1501-1503)Tta>Cta	p.L501L		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	Homo sapiens zinc finger and BTB domain containing 2 (ZBTB2), mRNA.	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		ATGGAAGCTAACACTGGGTGG	0.448000														85			33		0	0	0.006230	0	0
C1QL3	389941	broad.mit.edu	37	10	16562764	16562764	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:16562764G>A	uc001ioj.1	-	0	1241	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L		NM_001010908	NP_001010908	Q5VWW1	C1QL3_HUMAN	Homo sapiens complement component 1, q subcomponent-like 3 (C1QL3), mRNA.	101	Collagen-like.|Pro-rich.					collagen				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						gggcccggcAGGCCTTGGCGG	0.806000														2			3		0	0	0.000602	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781825	128781825	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:128781825C>T	uc001qet.3	+	1	971	c.657C>T	c.(655-657)ttC>ttT	p.F219F	KCNJ5_uc009zck.3_Silent_p.F219F|KCNJ5_uc001qew.3_Silent_p.F219F	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	219					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	GCCTCATGTTCCGGGTGGGCG	0.587000														24			23		0	0	0.002780	0	0
SUMO1P1	391257	broad.mit.edu	37	20	52491948	52491948	+	RNA	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:52491948G>A	uc010gik.3	-	0		c.301C>T								Homo sapiens SUMO1 pseudogene 1 (SUMO1P1), non-coding RNA.											kidney(1)	1						CTGACAGTACGATTTCTTGAG	0.398000														9			6		0	0	0.001168	0	0
WNT2	7472	broad.mit.edu	37	7	116955221	116955221	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:116955221C>T	uc003viz.3	-	2	792	c.492G>A	c.(490-492)ggG>ggA	p.G164G	WNT2_uc003vja.3_Silent_p.G68G	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	164					Wnt receptor signaling pathway, calcium modulating pathway|atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	p.Y163Y(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CAAATTTGATCCCATAGTCAA	0.463000														78			54		0	0	0.014410	0	0
ZMAT1	84460	broad.mit.edu	37	X	101152859	101152859	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:101152859C>T	uc011mrl.2	-	4	837	c.487G>A	c.(487-489)Gga>Aga	p.G163R	ZMAT1_uc004ein.3_5'UTR|ZMAT1_uc011mrm.2_5'UTR	NM_001011657	NP_001011657	A7MD47	A7MD47_HUMAN	Homo sapiens zinc finger, matrin-type 1 (ZMAT1), transcript variant 1, mRNA.	0						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						GGTTGAAATCCTGATGGAGAT	0.413000														11			23		0	0	0.002780	0	0
IPO13	9670	broad.mit.edu	37	1	44433324	44433324	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:44433324C>T	uc001ckx.3	+	19	3657	c.2862C>T	c.(2860-2862)ctC>ctT	p.L954L	IPO13_uc001cky.3_Silent_p.L172L	NM_014652	NP_055467	O94829	IPO13_HUMAN	Homo sapiens importin 13 (IPO13), mRNA.	954					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GCCGGGGTCTCCATGGCACAG	0.557000														31			11		0	0	0.010729	0	0
CDH6	1004	broad.mit.edu	37	5	31323218	31323218	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:31323218G>A	uc003jhe.2	+	11	2536	c.2176G>A	c.(2176-2178)Gac>Aac	p.D726N		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	726					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.T725K(1)		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						AAATGACACGGACCCCACTGC	0.567000														30			15		0	0	0.004007	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156907240	156907240	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:156907240G>A	uc001fqo.3	-	37	5161	c.4121C>T	c.(4120-4122)aCc>aTc	p.T1374I	ARHGEF11_uc010phu.2_Missense_Mutation_p.T790I|ARHGEF11_uc001fqn.3_Missense_Mutation_p.T1414I|MIR765_uc021pbj.1_5'Flank	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	1374					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGAGTGGTCGGTGCTTGAGTC	0.587000														43			21		0	0	0.012319	0	0
CHAF1A	10036	broad.mit.edu	37	19	4429766	4429766	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:4429766C>T	uc002mal.3	+	9	1935	c.1835C>T	c.(1834-1836)tCc>tTc	p.S612F		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	612					DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGGGAGTCCCTGTCCCAC	0.542000								Chromatin Structure						89			45		0	0	0.014410	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838578	16838578	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:16838578G>A	uc010rcu.1	-	10	1650	c.1635C>T	c.(1633-1635)tcC>tcT	p.S545S	PLEKHA7_uc001mmo.3_Silent_p.S545S|PLEKHA7_uc010rcv.2_Silent_p.S119S|PLEKHA7_uc001mmn.3_Silent_p.S253S	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	545	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGAACTCTGGGGAGCCAAGGC	0.697000														24			25		0	0	0.003954	0	0
CFI	3426	broad.mit.edu	37	4	110662218	110662218	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:110662218G>A	uc011cft.2	-	13	1815	c.1607C>T	c.(1606-1608)cCc>cTc	p.P536L	CFI_uc003hzq.3_Missense_Mutation_p.P325L|CFI_uc003hzr.4_Missense_Mutation_p.P528L	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	528	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			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)		ACAGACTAAGGGGCCTCCAGA	0.438000														162			106		0	0	0.014410	0	0
MKL1	57591	broad.mit.edu	37	22	40816972	40816972	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:40816972G>A	uc003ayv.1	-	6	967	c.760C>T	c.(760-762)Ccc>Tcc	p.P254S	MKL1_uc010gyf.1_Missense_Mutation_p.P204S|MKL1_uc003ayw.1_Missense_Mutation_p.P254S|MKL1_uc010gye.1_Missense_Mutation_p.P254S	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	254	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GAGTCCATGGGGGGTGCCCCC	0.597000			T	RBM15	acute megakaryocytic leukemia									44			16		0	0	0.004990	0	0
TOX3	27324	broad.mit.edu	37	16	52497939	52497939	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:52497939C>T	uc002egw.2	-	2	486	c.315G>A	c.(313-315)caG>caA	p.Q105Q	TOX3_uc010vgt.1_Silent_p.Q100Q	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	Homo sapiens TOX high mobility group box family member 3 (TOX3), transcript variant 1, mRNA.	105					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GAGGGGGAAACTGGGGTGTGA	0.532000														51			30		0	0	0.007291	0	0
CACNA1E	777	broad.mit.edu	37	1	181767591	181767591	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:181767591G>A	uc009wxt.3	+	47	6758	c.6563G>A	c.(6562-6564)gGa>gAa	p.G2188E	CACNA1E_uc001gow.3_Missense_Mutation_p.G2145E|CACNA1E_uc009wxs.3_Missense_Mutation_p.G2126E	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2188					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTGCTGATGGAAGCGAGGAG	0.637000														57			32		0	0	0.010818	0	0
MYO3A	53904	broad.mit.edu	37	10	26455066	26455066	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:26455066G>A	uc001isn.2	+	26	3430	c.3070G>A	c.(3070-3072)Gaa>Aaa	p.E1024K	MYO3A_uc009xko.1_Missense_Mutation_p.E1024K|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1024	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CACCATTTTGGAAAAAGCTGG	0.423000														174			35		0	0	0.013726	0	0
TTN	7273	broad.mit.edu	37	2	179595421	179595421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179595421G>A	uc021vsy.1	-	57	14332	c.14107C>T	c.(14107-14109)Ccc>Tcc	p.P4703S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P1364S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5630	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)			ATGCTTATGGGATGTGACCCA	0.373000														52			36		0	0	0.004289	0	0
HR	55806	broad.mit.edu	37	8	21978678	21978678	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:21978678G>A	uc003xas.3	-	9	2932	c.2267C>T	c.(2266-2268)cCt>cTt	p.P756L	HR_uc003xat.3_Missense_Mutation_p.P756L	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	756							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GCAGAGAGAAGGACAAGGCAG	0.642000														103			55		0	0	0.014410	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31121356	31121356	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:31121356C>T	uc003tca.2	+	5	604	c.315C>T	c.(313-315)tcC>tcT	p.S105S	ADCYAP1R1_uc003tcg.3_Silent_p.S105S|ADCYAP1R1_uc003tce.2_Silent_p.S105S|ADCYAP1R1_uc003tcb.2_Intron|ADCYAP1R1_uc003tcc.2_Silent_p.S105S	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	105					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						ACAGTAACTCCTTAGATCTCT	0.493000														56			30		0	0	0.012213	0	0
BRF2	55290	broad.mit.edu	37	8	37702243	37702243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:37702243G>A	uc003xkk.3	-	3	1155	c.1025C>T	c.(1024-1026)tCc>tTc	p.S342F		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	Homo sapiens BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like (BRF2), mRNA.	342					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			TAAACCTAAGGAATTATTTCC	0.622000														29			18		0	0	0.007413	0	0
SLC45A2	51151	broad.mit.edu	37	5	33947399	33947399	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:33947399C>T	uc003jid.3	-	5	1329	c.1237G>A	c.(1237-1239)Gga>Aga	p.G413R	SLC45A2_uc003jie.3_Missense_Mutation_p.G413R	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	Homo sapiens solute carrier family 45, member 2 (SLC45A2), transcript variant 1, mRNA.	413					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		p.T412M(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CCAATAAATCCCGTCCCCAGG	0.483000														111			45		0	0	0.014410	0	0
KCNE4	23704	broad.mit.edu	37	2	223918013	223918013	+	Silent	SNP	C	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:223918013C>A	uc002vnl.4	+	1	619	c.465C>A	c.(463-465)ctC>ctA	p.L155L	KCNE4_uc021vxi.1_Silent_p.L155L	NM_080671	NP_542402	Q8WWG9	KCNE4_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 4 (KCNE4), mRNA.	155						integral to membrane	voltage-gated potassium channel activity			large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGACGCCCCTCAACGAGAGCA	0.637000														31			7		8.12818e-05	8.94798e-05	0.001984	1	0
EYS	346007	broad.mit.edu	37	6	66044969	66044969	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:66044969C>T	uc011dxu.1	-	10	2208	c.1670G>A	c.(1669-1671)aGa>aAa	p.R557K	EYS_uc003peq.3_Missense_Mutation_p.R557K|EYS_uc003per.1_Missense_Mutation_p.R557K|EYS_uc021zbn.1_Missense_Mutation_p.R557K	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	557					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GCCAGCCCATCTGAGAAAACA	0.353000														38			24		0	0	0.003954	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37438607	37438607	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:37438607G>A	uc021ppc.1	+	10	1503	c.1404_splice	c.e10+1	p.K468_splice	ANKRD30A_uc001iza.1_Splice_Site_p.K468_splice	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	524						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						CTGCCTTCAAGGTATTTAGTT	0.303000														33			24		0	0	0.003954	0	0
RPL13AP3	645683	broad.mit.edu	37	14	56233556	56233556	+	RNA	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:56233556C>T	uc010aos.3	+	0		c.594C>T								Homo sapiens ribosomal protein L13a pseudogene 3 (RPL13AP3), non-coding RNA.																		GCCTGCCCTTCCTCCGTCGTC	0.562000														5			3		0	0	0.004672	0	0
LRRN1	57633	broad.mit.edu	37	3	3887534	3887534	+	Silent	SNP	C	T	T	rs113247781	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:3887534C>T	uc003bpt.4	+	1	1970	c.1209C>T	c.(1207-1209)ccC>ccT	p.P403P	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.P403P	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	403	LRRCT.					integral to membrane		p.P403P(2)		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)		CCATGCCGCCCGAATATAAAG	0.493000														77			20		0	0	0.008871	0	0
GRM7	2917	broad.mit.edu	37	3	7721838	7721838	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:7721838C>T	uc003bqm.2	+	8	2828	c.2554C>T	c.(2554-2556)Cct>Tct	p.P852S	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.P852S|GRM7_uc003bql.2_Missense_Mutation_p.P852S|GRM7_uc003bqn.1_Missense_Mutation_p.P435S	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	852					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding	p.P852H(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CATTTTCCACCCTGAACTCAA	0.493000														53			18		0	0	0.004990	0	0
ZNF704	619279	broad.mit.edu	37	8	81605253	81605253	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:81605253G>A	uc003yby.2	-	2	543	c.311C>T	c.(310-312)cCc>cTc	p.P104L		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	Homo sapiens zinc finger protein 704 (ZNF704), mRNA.	104						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			CGGCCGCACGGGAGGACTTCG	0.522000														50			21		0	0	0.002780	0	0
CREBBP	1387	broad.mit.edu	37	16	3824617	3824617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:3824617G>A	uc002cvv.3	-	11	2440	c.2236C>T	c.(2236-2238)Cca>Tca	p.P746S	CREBBP_uc002cvw.3_Missense_Mutation_p.P708S	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	746					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGGTTCATTGGGGAGGCTGCA	0.532000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							61			12		0	0	0.013537	0	0
CACNA1E	777	broad.mit.edu	37	1	181480569	181480569	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:181480569C>T	uc009wxt.3	+	2	630	c.435C>T	c.(433-435)gcC>gcT	p.A145A	CACNA1E_uc001gow.3_Silent_p.A145A|CACNA1E_uc009wxs.3_Silent_p.A145A|CACNA1E_uc009wxr.3_Silent_p.A52A	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	145					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AAATTGTGGCCCTGGGGTTCA	0.488000														148			81		0	0	0.014410	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54109721	54109721	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:54109721G>A	uc001sef.3	-	8	1260	c.1116C>T	c.(1114-1116)gcC>gcT	p.A372A	CALCOCO1_uc001see.3_5'Flank|CALCOCO1_uc010som.2_Silent_p.A287A|CALCOCO1_uc010son.2_Silent_p.A249A|CALCOCO1_uc009znd.3_Silent_p.A372A|CALCOCO1_uc001seg.3_Silent_p.A197A|CALCOCO1_uc001seh.2_Silent_p.A372A|CALCOCO1_uc010soo.1_Silent_p.A365A	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 1, mRNA.	372	Poly-Ala.				Wnt receptor signaling pathway|steroid hormone receptor signaling pathway|transcription, DNA-dependent	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						TGCGGTCCCTGGCTGCTGCTG	0.597000														37			19		0	0	0.006122	0	0
KCNC2	3747	broad.mit.edu	37	12	75434972	75434972	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:75434972A>G	uc009zry.3	-	3	1814	c.1795T>C	c.(1795-1797)Tat>Cat	p.Y599H	KCNC2_uc001sxe.3_3'UTR|KCNC2_uc001sxf.3_3'UTR	NM_139136	NP_631874	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 1, mRNA.	0					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AATCCATGATAAATTCTGTAC	0.378000														48			15		0	0	0.004007	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110487398	110487398	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:110487398G>A	uc003yne.3	+	50	8761	c.8657G>A	c.(8656-8658)tGg>tAg	p.W2886*		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2886					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)			ATGTCTGGATGGATGGCTCTG	0.348000										HNSCC(38;0.096)				50			24		0	0	0.004656	0	0
GPR6	2830	broad.mit.edu	37	6	110301318	110301318	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:110301318G>A	uc011eav.2	+	2	1292	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	GPR6_uc011eaw.2_Missense_Mutation_p.E335K|GPR6_uc003ptu.3_Missense_Mutation_p.E335K|GPR6_uc021zds.1_Missense_Mutation_p.E335K	NM_005284	NP_005275	P46095	GPR6_HUMAN	Homo sapiens G protein-coupled receptor 6 (GPR6), mRNA.	335						integral to plasma membrane		p.S350Y(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CCGCAACCAGGAGATCCAGCG	0.617000														92			44		0	0	0.014410	0	0
LOC645166	645166	broad.mit.edu	37	1	148932910	148932910	+	RNA	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:148932910C>T	uc010pbc.1	+	1		c.225C>T			LOC645166_uc010pbd.1_Non-coding_Transcript|LOC645166_uc009wkw.1_Non-coding_Transcript					Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC645166), transcript variant 2, non-coding RNA.																		GCCAAGACTCCGTCCTGCAAG	0.612000														112			7		0	0	0.003080	0	0
STON2	85439	broad.mit.edu	37	14	81862514	81862514	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:81862514C>T	uc010tvu.2	-	1	295	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	STON2_uc001xvk.1_Missense_Mutation_p.E33K|STON2_uc010atc.1_Missense_Mutation_p.E33K	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	33					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)		AGGTGCTCTTCCGTGCCCCCT	0.572000														20			12		0	0	0.002450	0	0
LTBP1	4052	broad.mit.edu	37	2	33505208	33505208	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:33505208G>A	uc021vft.1	+	18	3118	c.3095G>A	c.(3094-3096)tGg>tAg	p.W1032*	LTBP1_uc002rou.3_Nonsense_Mutation_p.W706*|LTBP1_uc002rov.3_Nonsense_Mutation_p.W653*|LTBP1_uc010ymz.2_Nonsense_Mutation_p.W706*|LTBP1_uc010yna.2_Nonsense_Mutation_p.W653*	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1032	EGF-like 7; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TTCCGAGGCTGGAATGGACAG	0.448000														28			19		0	0	0.008871	0	0
WDR69	164781	broad.mit.edu	37	2	228783512	228783512	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:228783512C>T	uc002vpn.1	+	10	1069	c.990C>T	c.(988-990)ttC>ttT	p.F330F	WDR69_uc010zlw.1_Silent_p.F315F|WDR69_uc002vpo.1_Non-coding_Transcript	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	Homo sapiens WD repeat domain 69 (WDR69), mRNA.	330										breast(1)|kidney(3)|large_intestine(9)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		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;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CAAGAATTTTCAGTGCTGCCA	0.343000														25			17		0	0	0.008871	0	0
AP1B1	162	broad.mit.edu	37	22	29745234	29745234	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:29745234G>A	uc003afj.3	-	10	1597	c.1410C>T	c.(1408-1410)ctC>ctT	p.L470L	AP1B1_uc003afl.3_Silent_p.L470L|AP1B1_uc003afi.3_Silent_p.L470L|AP1B1_uc011ako.2_Silent_p.L23L	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	470					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						GGAAGCCCTCGAGGAAGCTCT	0.617000														60			30		0	0	0.012213	0	0
LMO2	4005	broad.mit.edu	37	11	33886333	33886333	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:33886333G>A	uc001mve.3	-	1	511	c.72C>T	c.(70-72)ccC>ccT	p.P24P	LMO2_uc001mvc.3_Silent_p.P17P|LMO2_uc001mvd.3_Silent_p.P17P|LMO2_uc010rel.2_Silent_p.P24P|LMO2_uc010rem.2_Silent_p.P93P	NM_001142316	NP_001135788	P25791	RBTN2_HUMAN	Homo sapiens LIM domain only 2 (rhombotin-like 1) (LMO2), transcript variant 3, mRNA.	24					multicellular organismal development	nucleus	protein binding|zinc ion binding	p.P24P(4)		NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						GCAGGGATGGGGGGATCTGCA	0.617000			T	TRD@	T-ALL									46			16		0	0	0.010504	0	0
SLC7A13	157724	broad.mit.edu	37	8	87229699	87229699	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:87229699C>T	uc003ydq.1	-	3	1277	c.1179_splice	c.e3+1	p.K393_splice	SLC7A13_uc003ydr.1_Splice_Site_p.K384_splice	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	393						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CCAATTTTACCTTATAAGGTA	0.289000														26			16		0	0	0.006122	0	0
SSTR3	6753	broad.mit.edu	37	22	37603034	37603034	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:37603034C>T	uc003ara.3	-	1	871	c.809G>A	c.(808-810)tGg>tAg	p.W270*	SSTR3_uc003arb.3_Nonsense_Mutation_p.W270*|SSTR3_uc021wos.1_Nonsense_Mutation_p.W270*	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	270					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GAAGGGCATCCAGCAGAGCAC	0.677000														55			19		0	0	0.002780	0	0
WDR89	112840	broad.mit.edu	37	14	64065642	64065642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:64065642C>T	uc021ruf.1	-	0	1019	c.1019G>A	c.(1018-1020)gGa>gAa	p.G340E	WDR89_uc001xgh.3_Missense_Mutation_p.G340E|WDR89_uc001xgi.3_Missense_Mutation_p.G340E	NM_080666	NP_542397	Q96FK6	WDR89_HUMAN	Homo sapiens WD repeat domain 89 (WDR89), transcript variant 2, mRNA.	340										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		TGCATCTTCTCCTCCAGTCAA	0.448000														69			46		0	0	0.013114	0	0
ASPM	259266	broad.mit.edu	37	1	197104367	197104367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:197104367G>A	uc001gtu.3	-	4	2289	c.2032C>T	c.(2032-2034)Ccc>Tcc	p.P678S	ASPM_uc001gtv.3_Missense_Mutation_p.P678S|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	678					mitosis	cytoplasm|nucleus	calmodulin binding	p.P678P(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GGGTGTCTGGGAATATCTAAG	0.333000														37			14		0	0	0.003163	0	0
SUCNR1	56670	broad.mit.edu	37	3	151598919	151598919	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:151598919C>T	uc003ezf.2	+	2	693	c.588C>T	c.(586-588)ttC>ttT	p.F196F		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	Homo sapiens succinate receptor 1 (SUCNR1), mRNA.	196						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.G195W(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TGTTGGGGTTCCTTATTCCTC	0.423000														51			42		0	0	0.006230	0	0
HYDIN	54768	broad.mit.edu	37	16	70916787	70916787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:70916787C>T	uc002ezr.3	-	59	10139	c.9988G>A	c.(9988-9990)Gaa>Aaa	p.E3330K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3331										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)				GCATTGTTTTCGGTCACGAAG	0.512000														30			32		0	0	0.011902	0	0
RNASEH1	246243	broad.mit.edu	37	2	3599846	3599846	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:3599846G>A	uc002qxt.3	-	2	387	c.297C>T	c.(295-297)ctC>ctT	p.L99L	RNASEH1_uc002qxs.3_5'UTR	NM_002936	NP_002927	O60930	RNH1_HUMAN	Homo sapiens ribonuclease H1 (RNASEH1), mRNA.	99					RNA catabolic process	cytoplasm	RNA binding|magnesium ion binding|ribonuclease H activity			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		GTGGCTCACGGAGTCGCTTGC	0.532000														26			28		0	0	0.012213	0	0
NECAP1	25977	broad.mit.edu	37	12	8245541	8245541	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:8245541C>T	uc001qtx.2	+	5	644	c.566C>T	c.(565-567)cCc>cTc	p.P189L	NECAP1_uc001qty.2_Missense_Mutation_p.P47L	NM_015509	NP_056324	Q8NC96	NECP1_HUMAN	Homo sapiens NECAP endocytosis associated 1 (NECAP1), transcript variant 1, mRNA.	189					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		TTACTCCCACCCCCGCCAGGA	0.512000														104			74		0	0	0.014410	0	0
STAM	8027	broad.mit.edu	37	10	17726680	17726680	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:17726680G>A	uc001ipj.2	+	2	347	c.132G>A	c.(130-132)aaG>aaA	p.K44K	STAM_uc010qcf.2_Intron	NM_003473	NP_003464	Q92783	STAM1_HUMAN	Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 (STAM), transcript variant 1, mRNA.	44	VHS.				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	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TTAGACCTAAGGATTGTCTTC	0.373000														42			16		0	0	0.007413	0	0
C12orf40	283461	broad.mit.edu	37	12	40078679	40078679	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:40078679C>T	uc001rmc.3	+	9	1464	c.1297C>T	c.(1297-1299)Cct>Tct	p.P433S	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	433								p.I432R(1)		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						GGGAAATATACCTTCGGAAGA	0.373000														32			14		0	0	0.003163	0	0
C12orf50	160419	broad.mit.edu	37	12	88391963	88391963	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:88391963G>A	uc001tam.1	-	3	306	c.138C>T	c.(136-138)atC>atT	p.I46I	C12orf50_uc001tan.3_Silent_p.I100I	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	46										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TCTGTAGTGTGATATCTGCAG	0.373000														20			6		0	0	0.001984	0	0
DYNLRB2	83657	broad.mit.edu	37	16	80583386	80583386	+	Missense_Mutation	SNP	C	G	G	rs143006037		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:80583386C>G	uc002ffo.3	+	2	205	c.85C>G	c.(85-87)Ccc>Gcc	p.P29A	DYNLRB2_uc002ffp.3_Non-coding_Transcript|DYNLRB2_uc002ffq.3_Non-coding_Transcript	NM_130897	NP_570967	Q8TF09	DLRB2_HUMAN	Homo sapiens dynein, light chain, roadblock-type 2 (DYNLRB2), mRNA.	29					microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity			large_intestine(1)|lung(4)|prostate(1)	6						AATAGGTATTCCCATCCGAAC	0.343000														9			8		0	0	0.006214	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17699398	17699398	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:17699398A>T	uc002rcl.1	-	0	309	c.285T>A	c.(283-285)agT>agA	p.S95R	RAD51AP2_uc010exn.1_Missense_Mutation_p.S86R	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	95										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCTGCTTCCCACTGACTGATT	0.448000														55			41		0	0	0.008740	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18639275	18639275	+	Missense_Mutation	SNP	G	A	A	rs143136084	by1000genomes	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:18639275G>A	uc003zne.4	+	6	852	c.700G>A	c.(700-702)Ggg>Agg	p.G234R	ADAMTSL1_uc003znb.3_Missense_Mutation_p.G234R|ADAMTSL1_uc003znc.4_Missense_Mutation_p.G234R	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	234						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AACCCTCCAGGGGACTAAAGG	0.428000														15			10		0	0	0.008291	0	0
LOC440563	440563	broad.mit.edu	37	1	13183384	13183384	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:13183384C>T	uc010obg.2	-	1	732	c.489G>A	c.(487-489)aaG>aaA	p.K163K		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	163						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										GCTTTCCACTCTTAGAATTGA	0.498000														637			63		0	0	0.014410	0	0
IGF2R	3482	broad.mit.edu	37	6	160471555	160471555	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:160471555C>T	uc003qta.3	+	18	2713	c.2565C>T	c.(2563-2565)acC>acT	p.T855T		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	855					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	p.K854T(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TGGCAAAGACCGGCCCGGTGG	0.542000														62			39		0	0	0.009718	0	0
LTBP4	8425	broad.mit.edu	37	19	41119848	41119848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:41119848C>T	uc002ooh.1	+	20	2785	c.2785C>T	c.(2785-2787)Ctt>Ttt	p.L929F	LTBP4_uc002oog.1_Missense_Mutation_p.L892F|LTBP4_uc002ooi.1_Missense_Mutation_p.L862F|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc002ook.1_Missense_Mutation_p.L149F|LTBP4_uc002ool.1_Missense_Mutation_p.L27F|LTBP4_uc002oom.1_Non-coding_Transcript|LTBP4_uc010xvp.1_5'Flank	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	929	Cys-rich.|EGF-like 11; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGAGGAGGACCTTTGCCAGAG	0.677000														21			11		0	0	0.008291	0	0
MANSC1	54682	broad.mit.edu	37	12	12483519	12483519	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:12483519G>A	uc001rai.1	-	3	996	c.738C>T	c.(736-738)acC>acT	p.T246T	MANSC1_uc010shm.1_Silent_p.T180T|MANSC1_uc001raj.1_Silent_p.T212T	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	Homo sapiens MANSC domain containing 1 (MANSC1), mRNA.	246	Thr-rich.					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)		TGGGTAGAAGGGTGGCGGGCT	0.562000														57			21		0	0	0.003330	0	0
ABCB5	340273	broad.mit.edu	37	7	20782640	20782640	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:20782640G>A	uc010kuh.3	+	24	3402	c.3165G>A	c.(3163-3165)ggG>ggA	p.G1055G	ABCB5_uc003suw.4_Silent_p.G610G	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	610					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			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						GCGGCTGTGGGAAAAGCACTT	0.493000														26			12		0	0	0.013537	0	0
TTLL7	79739	broad.mit.edu	37	1	84386840	84386840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:84386840C>T	uc001djc.3	-	11	1690	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Non-coding_Transcript|TTLL7_uc001djf.3_Non-coding_Transcript|TTLL7_uc001djg.3_Non-coding_Transcript	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA.	432					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GCGAGTCTCTCTTTCTGGAAA	0.328000														54			16		0	0	0.004007	0	0
ABCA12	26154	broad.mit.edu	37	2	215872517	215872517	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:215872517C>T	uc002vew.3	-	18	2746	c.2526G>A	c.(2524-2526)tgG>tgA	p.W842*	ABCA12_uc002vev.3_Nonsense_Mutation_p.W524*|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.	842					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)		ACTTATCCATCCACTCTTGAG	0.388000														25			34		0	0	0.013726	0	0
TMEM63C	57156	broad.mit.edu	37	14	77719649	77719649	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:77719649C>T	uc001xtf.2	+	23	2361	c.2149_splice	c.e23-1	p.P717_splice	TMEM63C_uc010asq.1_Splice_Site_p.P717_splice	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	717						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CTGCTGCAGCCCGAGGAGGAG	0.622000														3			6		0	0	0.001168	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249106304	249106304	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:249106304G>A	uc001iew.1	-	6	1529	c.977C>T	c.(976-978)cCc>cTc	p.P326L	SH3BP5L_uc010pzp.1_Missense_Mutation_p.P219L|SH3BP5L_uc001iev.1_Missense_Mutation_p.P207L	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	Homo sapiens SH3-binding domain protein 5-like (SH3BP5L), mRNA.	326										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GTCGGGGGCGGGGCCGGGCCC	0.711000														35			23		0	0	0.004656	0	0
CHD6	84181	broad.mit.edu	37	20	40113090	40113090	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:40113090G>A	uc002xka.1	-	14	2337	c.2159C>T	c.(2158-2160)tCc>tTc	p.S720F	CHD6_uc002xkd.2_Missense_Mutation_p.S698F	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	720					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGTCAGGAAGGAAAAGTTCTT	0.473000														94			51		0	0	0.014410	0	0
ESCO2	157570	broad.mit.edu	37	8	27634107	27634107	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:27634107C>T	uc003xgg.3	+	2	365	c.282C>T	c.(280-282)ctC>ctT	p.L94L	ESCO2_uc010luy.1_Non-coding_Transcript|ESCO2_uc003xgh.3_Silent_p.L94L	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	Homo sapiens establishment of cohesion 1 homolog 2 (S. cerevisiae) (ESCO2), mRNA.	94					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AGTGGTACCTCAATCCACTGG	0.353000									SC Phocomelia syndrome					30			22		0	0	0.010504	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455424	187455424	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:187455424C>T	uc003izd.1	-	1	490	c.472G>A	c.(472-474)Gcc>Acc	p.A158T		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	158					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GGCAGGACGGCCGCCAGCGTC	0.602000														45			22		0	0	0.002780	0	0
NUMBL	9253	broad.mit.edu	37	19	41188839	41188839	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:41188839C>T	uc002oon.3	-	3	452	c.284G>A	c.(283-285)gGa>gAa	p.G95E	NUMBL_uc010xvq.2_Missense_Mutation_p.G54E|NUMBL_uc010xvr.2_Missense_Mutation_p.G54E|NUMBL_uc002ooo.3_Missense_Mutation_p.G95E	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	Homo sapiens numb homolog (Drosophila)-like (NUMBL), mRNA.	95	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	p.R94W(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CACGTGCATTCCCCGGGACTC	0.592000														44			30		0	0	0.013726	0	0
LRBA	987	broad.mit.edu	37	4	151356790	151356790	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:151356790G>A	uc010ipj.3	-	46	7269	c.7025C>T	c.(7024-7026)tCa>tTa	p.S2342L	LRBA_uc010ipi.3_Intron|LRBA_uc003ils.4_Missense_Mutation_p.S232L|LRBA_uc003ilt.4_Missense_Mutation_p.S990L|LRBA_uc003ilu.4_Missense_Mutation_p.S2331L	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2342	BEACH.					Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TCTGGAAATTGATGAAAAAGT	0.333000														70			34		0	0	0.013726	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809378	18809378	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:18809378G>A	uc001bax.3	+	0	1955	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K	KLHDC7A_uc009vpg.3_Missense_Mutation_p.E417K	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	635						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)		GCGTGCCAAGGAAATCTTCGT	0.711000														22			12		0	0	0.013537	0	0
TPD52L1	7164	broad.mit.edu	37	6	125550273	125550273	+	Missense_Mutation	SNP	G	A	A	rs139731274		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:125550273G>A	uc003pzu.1	+	2	364	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	TPD52L1_uc003pzv.1_Missense_Mutation_p.E49K|TPD52L1_uc003pzw.1_Missense_Mutation_p.E49K|TPD52L1_uc003pzx.1_Missense_Mutation_p.E20K|TPD52L1_uc003pzy.1_Missense_Mutation_p.E20K|TPD52L1_uc003pzz.1_Missense_Mutation_p.E20K	NM_003287	NP_001003395	Q16890	TPD53_HUMAN	Homo sapiens tumor protein D52-like 1 (TPD52L1), transcript variant 1, mRNA.	49					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		GCTAGAAGACGAAATTACAAC	0.418000														17			17		0	0	0.007413	0	0
HRNR	388697	broad.mit.edu	37	1	152185557	152185557	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:152185557G>A	uc001ezt.1	-	2	8624	c.8548C>T	c.(8548-8550)Cag>Tag	p.Q2850*		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2850					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTATTCACTGATAAAAGTAG	0.348000														25			23		0	0	0.012319	0	0
DOCK5	80005	broad.mit.edu	37	8	25156545	25156545	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:25156545T>C	uc003xeg.3	+	7	829	c.692T>C	c.(691-693)tTt>tCt	p.F231S	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_5'UTR|DOCK5_uc003xef.3_Missense_Mutation_p.F231S	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	231						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTCAAGAACTTTGTCTGCAAC	0.507000														29			7		0	0	0.003080	0	0
PASD1	139135	broad.mit.edu	37	X	150832597	150832597	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:150832597C>T	uc004fev.4	+	10	1180	c.848C>T	c.(847-849)tCc>tTc	p.S283F		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	283						nucleus	signal transducer activity	p.S283F(3)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGCCTTATCCTTGCAAGAC	0.473000														11			40		0	0	0.009718	0	0
CHST6	4166	broad.mit.edu	37	16	75513311	75513311	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:75513311G>A	uc021tlj.1	-	0	416	c.416C>T	c.(415-417)cCc>cTc	p.P139L	CHST6_uc002fef.3_Missense_Mutation_p.P139L|CHST6_uc002feg.1_Non-coding_Transcript|CHST6_uc002feh.1_Missense_Mutation_p.P139L	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 (CHST6), mRNA.	139					N-acetylglucosamine metabolic process|keratan sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GGCGCCTCGGGGAAAGGCACT	0.682000														35			6		0	0	0.001984	0	0
TNXB	7148	broad.mit.edu	37	6	32053812	32053812	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:32053812G>A	uc003nzl.2	-	6	3065	c.2863C>T	c.(2863-2865)Ctc>Ttc	p.L955F		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1042	Fibronectin type-III 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGCTGCAGGAGAGGAGCCTGG	0.682000														144			85		0	0	0.014410	0	0
PDE6A	5145	broad.mit.edu	37	5	149263002	149263002	+	Missense_Mutation	SNP	C	T	T	rs148637474		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:149263002C>T	uc003lrg.4	-	16	2245	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K	PDE6A_uc021yfs.1_Missense_Mutation_p.E628K	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	709					GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATAACGATTTCCTTCCGTGTC	0.483000														13			11		0	0	0.010729	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156618194	156618194	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:156618194C>T	uc003iov.3	+	3	711	c.175C>T	c.(175-177)Ctt>Ttt	p.L59F	GUCY1A3_uc003iou.2_Missense_Mutation_p.L59F|GUCY1A3_uc010iqc.2_Missense_Mutation_p.L59F|GUCY1A3_uc010iqd.3_Missense_Mutation_p.L59F|GUCY1A3_uc003iow.3_Missense_Mutation_p.L59F|GUCY1A3_uc003iox.3_Missense_Mutation_p.L59F|GUCY1A3_uc010iqe.3_5'UTR|GUCY1A3_uc003ioy.3_Missense_Mutation_p.L59F|GUCY1A3_uc003ioz.3_5'UTR|GUCY1A3_uc003ipa.3_Non-coding_Transcript|GUCY1A3_uc003ipb.3_Missense_Mutation_p.L59F	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	59					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ACAAGAAAGTCTTCCTCAAAG	0.473000														51			38		0	0	0.004878	0	0
OR10K1	391109	broad.mit.edu	37	1	158435686	158435686	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:158435686C>T	uc010pij.2	+	0	335	c.335C>T	c.(334-336)tCc>tTc	p.S112F		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCCTCTCACTCCTTCCTGCTG	0.522000														108			55		0	0	0.014410	0	0
PLCH1	23007	broad.mit.edu	37	3	155200219	155200219	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:155200219T>C	uc021xge.1	-	22	3897	c.3620A>G	c.(3619-3621)aAc>aGc	p.N1207S	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.N1169S	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1207					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.G1207R(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGCCTGATTGTTGGTCTCATC	0.453000														36			29		0	0	0.013726	0	0
TNXB	7148	broad.mit.edu	37	6	32047087	32047087	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:32047087G>A	uc003nzl.2	-	10	4300	c.4098C>T	c.(4096-4098)gcC>gcT	p.A1366A		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1453	Fibronectin type-III 6.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGACTCCGGGGCCTCCGTGC	0.642000														166			89		0	0	0.014410	0	0
CSF2RA	1438	broad.mit.edu	37	X	1401667	1401667	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:1401667A>T	uc010nct.2	+	3	393	c.71A>T	c.(70-72)aAa>aTa	p.K24I	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.K24I|CSF2RA_uc004cpq.2_Missense_Mutation_p.K24I|CSF2RA_uc004cpn.2_Missense_Mutation_p.K24I|CSF2RA_uc004cpo.2_Missense_Mutation_p.K24I|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Missense_Mutation_p.K24I|CSF2RA_uc010ncv.2_Missense_Mutation_p.K24I|CSF2RA_uc004cpr.2_Missense_Mutation_p.K24I	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	24						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ATCCCAGAGAAATCGGGTAAG	0.537000														212			92		0	0	0.014410	0	0
TP53BP1	7158	broad.mit.edu	37	15	43705503	43705504	+	Missense_Mutation	DNP	GG	AA	AA	rs76780868		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:43705503_43705504GG>AA	uc001zrs.3	-	23	5251_5252	c.5103_5104CC>TT	c.(5101-5106)agcccc>agTTcc	p.P1702S	TP53BP1_uc010udp.2_Missense_Mutation_p.P1700S|TP53BP1_uc001zrq.4_Missense_Mutation_p.P1705S|TP53BP1_uc001zrr.4_Missense_Mutation_p.P1707S|TP53BP1_uc001zrp.3_Missense_Mutation_p.P119S	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	1702					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTCTCACAGGGGCTCACAAACT	0.540000								Other conserved DNA damage response genes						17			10		0	0	0.004672	0	0
SLC3A1	6519	broad.mit.edu	37	2	44508527	44508527	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:44508527T>C	uc002ruc.4	+	3	689	c.611_splice	c.e3-1	p.G204_splice	SLC3A1_uc002rty.3_Splice_Site_p.G204_splice|SLC3A1_uc002rtz.2_Splice_Site_p.G204_splice|SLC3A1_uc002rua.3_Splice_Site_p.G204_splice|SLC3A1_uc002rub.2_Splice_Site_p.G204_splice	NM_000341	NP_000332	Q07837	SLC31_HUMAN	Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	204					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	L-cystine transmembrane transporter activity|basic amino acid transmembrane transporter activity|catalytic activity|cation binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	ACTCATTAGGTTTAAAATTAA	0.348000														16			18		0	0	0.008871	0	0
ZNF280D	54816	broad.mit.edu	37	15	56970922	56970922	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:56970922G>A	uc002adu.3	-	10	1319	c.1102C>T	c.(1102-1104)Ccc>Tcc	p.P368S	ZNF280D_uc002adv.3_Missense_Mutation_p.P355S|ZNF280D_uc010bfq.3_Missense_Mutation_p.P368S|ZNF280D_uc002adw.1_Missense_Mutation_p.P396S|ZNF280D_uc010bfr.1_Non-coding_Transcript|ZNF280D_uc010bfp.3_Non-coding_Transcript	NM_017661	NP_001002843	Q6N043	Z280D_HUMAN	Homo sapiens zinc finger protein 280D (ZNF280D), transcript variant 1, mRNA.	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		AATGGTGTGGGAAACTGACGG	0.408000														46			26		0	0	0.008361	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904753	73904753	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:73904753G>A	uc011dyh.2	+	14	2819	c.2472G>A	c.(2470-2472)agG>agA	p.R824R	KCNQ5_uc011dyi.2_Silent_p.R815R|KCNQ5_uc010kat.3_Silent_p.R796R|KCNQ5_uc003pgk.3_Silent_p.R805R|KCNQ5_uc011dyj.2_Silent_p.R695R|KCNQ5_uc011dyk.2_Silent_p.R555R	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	805					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GTTCTATGAGGAAAAGCTTTG	0.483000														67			37		0	0	0.008740	0	0
LYST	1130	broad.mit.edu	37	1	235891379	235891379	+	Silent	SNP	A	G	G	rs80338665		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:235891379A>G	uc001hxj.2	-	37	9334	c.9159T>C	c.(9157-9159)agT>agC	p.S3053S	LYST_uc001hxi.2_Silent_p.S277S	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	3053					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TACTCACCGAACTTTCAACTG	0.328000														47			23		0	0	0.004656	0	0
SI	6476	broad.mit.edu	37	3	164735365	164735365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:164735365C>T	uc003fei.3	-	30	3793	c.3730G>A	c.(3730-3732)Gac>Aac	p.D1244N		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1244	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)	ACCATAGCGTCATATAATTCC	0.348000										HNSCC(35;0.089)				26			4		0	0	0.009096	0	0
AK057473	0	broad.mit.edu	37	17	20805983	20805983	+	RNA	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:20805983C>T	uc002gyg.1	+	3		c.1167C>T			AK057473_uc002gyh.1_Non-coding_Transcript					Homo sapiens cDNA FLJ32911 fis, clone TESTI2006210.																		TAGAACATCCCGAACCCGTGA	0.617000														3			6		0	0	0.001168	0	0
ERCC6	2074	broad.mit.edu	37	10	50690779	50690779	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:50690779G>A	uc001jhs.4	-	9	2277	c.2123C>T	c.(2122-2124)tCc>tTc	p.S708F	ERCC6_uc010qgr.2_Missense_Mutation_p.S78F|ERCC6_uc001jhr.4_Missense_Mutation_p.S108F	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	708					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GATGGGGACGGAGAACTGCTC	0.448000								Direct reversal of damage;Nucleotide excision repair (NER)						35			30		0	0	0.013726	0	0
RAB3IP	117177	broad.mit.edu	37	12	70194082	70194082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:70194082G>A	uc001svp.3	+	6	1477	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N	RAB3IP_uc001svm.3_Missense_Mutation_p.D328N|RAB3IP_uc001svn.3_Missense_Mutation_p.D328N|RAB3IP_uc001svo.3_Intron|RAB3IP_uc001svq.3_Missense_Mutation_p.D344N|RAB3IP_uc001svs.3_Intron|RAB3IP_uc001svt.3_Missense_Mutation_p.D122N|Mir_548_uc021rap.1_5'Flank	NM_175623	NP_001019818	Q96QF0	RAB3I_HUMAN	Homo sapiens RAB3A interacting protein (rabin3) (RAB3IP), transcript variant alpha 2, mRNA.	344					Golgi to plasma membrane transport|cilium assembly|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CTACCAGGAAGATATCTTTCC	0.333000														25			16		0	0	0.003163	0	0
PMS2CL	441194	broad.mit.edu	37	7	6777062	6777062	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:6777062C>T	uc011jxb.1	+	4	1116	c.342C>T	c.(340-342)tcC>tcT	p.S114S	PMS2CL_uc003squ.3_Non-coding_Transcript|PMS2CL_uc003sqv.1_Non-coding_Transcript					Homo sapiens PMS2 C-terminal like pseudogene (PMS2CL), non-coding RNA.																		GCAGCACTTCCGTGGATTCTG	0.622000														54			22		0	0	0.002780	0	0
FAT1	2195	broad.mit.edu	37	4	187534477	187534477	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:187534477G>A	uc003izf.3	-	12	9437	c.9249C>T	c.(9247-9249)acC>acT	p.T3083T		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3083	Cadherin 28.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GATCAAGGGGGGTTGACGTTT	0.448000										HNSCC(5;0.00058)				47			30		0	0	0.010818	0	0
STRA8	346673	broad.mit.edu	37	7	134939945	134939945	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:134939945G>A	uc011kpx.2	+	7	886	c.886G>A	c.(886-888)Ggc>Agc	p.G296S		NM_182489	NP_872295	Q7Z7C7	STRA8_HUMAN	Homo sapiens stimulated by retinoic acid gene 8 homolog (mouse) (STRA8), mRNA.	296					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						CTTTTTTAAAGGCCTTAGCTG	0.463000														89			36		0	0	0.005524	0	0
FAM134B	54463	broad.mit.edu	37	5	16474881	16474881	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:16474881C>T	uc003jfs.3	-	8	1550	c.1463G>A	c.(1462-1464)gGt>gAt	p.G488D	FAM134B_uc003jfr.3_Missense_Mutation_p.G347D	NM_001034850	NP_001030022	Q9H6L5	F134B_HUMAN	Homo sapiens family with sequence similarity 134, member B (FAM134B), transcript variant 1, mRNA.	488					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						TGAAAGGAAACCTGAAGACTT	0.373000														83			12		0	0	0.001855	0	0
SLC7A13	157724	broad.mit.edu	37	8	87241867	87241867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:87241867C>T	uc003ydq.1	-	0	738	c.640G>A	c.(640-642)Gga>Aga	p.G214R	SLC7A13_uc003ydr.1_Missense_Mutation_p.G214R	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	214						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GCAAAATATCCTTGGAAGATG	0.368000														46			41		0	0	0.009718	0	0
CAT	847	broad.mit.edu	37	11	34470872	34470873	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:34470872_34470873AG>TA	uc001mvm.3	+	1	289_290	c.200_201AG>TA	c.(199-201)gag>gTA	p.E67V	CAT_uc009ykc.1_Non-coding_Transcript	NM_001752	NP_001743	P04040	CATA_HUMAN	Homo sapiens catalase (CAT), mRNA.	67					UV protection|hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process	peroxisomal matrix|peroxisomal membrane	NADP binding|catalase activity|heme binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TTTGACCGAGAGAGAATTCCTG	0.436000														64			29		0	0	0.004672	0	0
OR1J2	26740	broad.mit.edu	37	9	125273966	125273966	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:125273966G>A	uc011lyv.2	+	0	886	c.886G>A	c.(886-888)Gac>Aac	p.D296N	OR1J2_uc004bmj.2_Missense_Mutation_p.D296N	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TAGGAACAGGGACATGAAAGA	0.413000														23			36		0	0	0.004878	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997311	19997311	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:19997311G>A	uc002ktv.1	-	0	568	c.464C>T	c.(463-465)tCa>tTa	p.S155L		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	155						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGCTACTTGTGATTTGAGGGA	0.353000														117			29		0	0	0.008361	0	0
SLIT3	6586	broad.mit.edu	37	5	168093533	168093533	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:168093533G>A	uc010jjg.3	-	35	4939	c.4519C>T	c.(4519-4521)Cag>Tag	p.Q1507*	SLIT3_uc003mab.3_Nonsense_Mutation_p.Q1500*	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1500	CTCK.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCGTGCACTGGAAGACGTAT	0.637000														16			12		0	0	0.001855	0	0
SLC22A12	116085	broad.mit.edu	37	11	64367185	64367185	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:64367185G>A	uc001oam.1	+	6	1855	c.1108G>A	c.(1108-1110)Gac>Aac	p.D370N	SLC22A12_uc001oal.1_Missense_Mutation_p.D149N|SLC22A12_uc009yps.1_Missense_Mutation_p.D336N|SLC22A12_uc001oan.1_Missense_Mutation_p.D262N|SLC22A12_uc009ypt.3_Missense_Mutation_p.D188N	NM_144585	NP_700357	Q96S37	S22AC_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA.	370					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CCTGGCCCTGGACCTGCAGGC	0.657000														36			9		0	0	0.006214	0	0
LGI2	55203	broad.mit.edu	37	4	25019647	25019647	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:25019647C>T	uc003grf.2	-	5	718	c.619G>A	c.(619-621)Gac>Aac	p.D207N		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	207	LRRCT.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CTGGTCACGTCATTTAGCTTC	0.408000														85			52		0	0	0.014410	0	0
KRT17	3872	broad.mit.edu	37	17	39777023	39777023	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:39777023G>A	uc002hxh.2	-	5	1190	c.1069C>T	c.(1069-1071)Cgc>Tgc	p.R357C	JUP_uc010wfs.2_Intron	NM_000422	NP_000413	Q04695	K1C17_HUMAN	Homo sapiens keratin 17 (KRT17), mRNA.	357	Coil 2.|Rod.			R -> L (in Ref. 4; AL353997/AC022596).	epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				ATCTCGCAGCGAAGCTGGGCC	0.627000														41			26		0	0	0.004656	0	0
SEC14L1	6397	broad.mit.edu	37	17	75202465	75202465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:75202465C>T	uc010dhc.3	+	11	1644	c.1324C>T	c.(1324-1326)Cct>Tct	p.P442S	SEC14L1_uc021udv.1_Missense_Mutation_p.P442S|SEC14L1_uc021udw.1_Missense_Mutation_p.P442S|SEC14L1_uc021udx.1_Missense_Mutation_p.P442S|SEC14L1_uc002jto.3_Missense_Mutation_p.P442S|SEC14L1_uc010wth.2_Missense_Mutation_p.P442S|SEC14L1_uc002jtm.3_Missense_Mutation_p.P442S|SEC14L1_uc010wti.2_Missense_Mutation_p.P408S|SEC14L1_uc010wtj.1_5'Flank|SEC14L1_uc002jtr.2_5'Flank	NM_001039573	NP_001191337	Q92503	S14L1_HUMAN	Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA.	442	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CAGGGTATTTCCTGTGCTCTG	0.542000														37			28		0	0	0.012213	0	0
TACC2	10579	broad.mit.edu	37	10	124008235	124008235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:124008235G>A	uc001lfv.3	+	19	8830	c.8470G>A	c.(8470-8472)Gac>Aac	p.D2824N	TACC2_uc001lfw.3_Missense_Mutation_p.D970N|TACC2_uc009xzx.3_Missense_Mutation_p.D2702N|TACC2_uc010qtv.2_Missense_Mutation_p.D2751N|TACC2_uc001lfx.3_Missense_Mutation_p.D451N|TACC2_uc001lfy.3_Missense_Mutation_p.D447N|TACC2_uc001lfz.3_Missense_Mutation_p.D902N|TACC2_uc001lga.3_Missense_Mutation_p.D872N|TACC2_uc009xzy.3_Missense_Mutation_p.D884N|TACC2_uc001lgb.3_Missense_Mutation_p.D782N	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2824						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGCCCTGGCCGACCTGAACTC	0.572000														75			64		0	0	0.014410	0	0
ZNF737	100129842	broad.mit.edu	37	19	20736555	20736555	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:20736555C>T	uc002npa.3	-	1	270	c.90G>A	c.(88-90)agG>agA	p.R30R		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	Homo sapiens zinc finger protein 737 (ZNF737), mRNA.	30					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						ACATCACATTCCTATATAAAT	0.393000														50			24		0	0	0.003330	0	0
MUC16	94025	broad.mit.edu	37	19	8993443	8993443	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:8993443C>T	uc002mkp.3	-	65	41850	c.41646G>A	c.(41644-41646)ctG>ctA	p.L13882L	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.L699L|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13885	SEA 12.			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						TCAGCTGGCTCAGCTCCAAAT	0.592000														64			46		0	0	0.014410	0	0
ASXL1	171023	broad.mit.edu	37	20	31024661	31024661	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:31024661C>T	uc021wbw.1	+	12	4578	c.4146C>T	c.(4144-4146)gcC>gcT	p.A1382A	ASXL1_uc002wxs.3_Silent_p.A1381A|ASXL1_uc010geb.3_Silent_p.A1273A	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	1382					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.(574_1542)fs*?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGGCAAATGCCGAGAACAGGA	0.527000			"""F, N, Mis"""		"""MDS, CMML"""									78			34		0	0	0.013726	0	0
CDO1	1036	broad.mit.edu	37	5	115142174	115142174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:115142174C>T	uc003krg.3	-	3	756	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K		NM_001801	NP_001792	Q16878	CDO1_HUMAN	Homo sapiens cysteine dioxygenase, type I (CDO1), mRNA.	149					inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity	p.T148M(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	ACAGCAGGTTCCGTATGGCTG	0.408000														28			14		0	0	0.003163	0	0
OR4N5	390437	broad.mit.edu	37	14	20612732	20612732	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:20612732C>T	uc010tla.2	+	0	838	c.838C>T	c.(838-840)Cct>Tct	p.P280S		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGTCATCTTTCCTTTGATGAA	0.403000														107			43		0	0	0.009718	0	0
OR7D4	125958	broad.mit.edu	37	19	9324872	9324872	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9324872G>A	uc002mla.2	-	0	676	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G213E(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						AGGAGAAGAGGATCCCAGCTA	0.527000														71			35		0	0	0.004289	0	0
SCN11A	11280	broad.mit.edu	37	3	38889188	38889188	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:38889188G>A	uc021wvy.1	-	25	4572	c.4373C>T	c.(4372-4374)cCt>cTt	p.P1458L		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1458					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.P1458S(1)		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)	GAGCGTCGGAGGGAAAGGAAT	0.493000														9			17		0	0	0.007413	0	0
MUC16	94025	broad.mit.edu	37	19	9048675	9048675	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9048675C>T	uc002mkp.3	-	4	33160	c.32956G>A	c.(32956-32958)Gga>Aga	p.G10986R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10988	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						GTCACCATTCCTGGTACCTCA	0.493000														48			29		0	0	0.006320	0	0
MAOA	4128	broad.mit.edu	37	X	43603700	43603700	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:43603700C>T	uc004dfy.3	+	14	1705	c.1524C>T	c.(1522-1524)tcC>tcT	p.S508S	MAOA_uc011mkw.2_Silent_p.S375S	NM_000240	NP_000231	P21397	AOFA_HUMAN	Homo sapiens monoamine oxidase A (MAOA), nuclear gene encoding mitochondrial protein, mRNA.	508					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	TTGGATTTTCCACATCAGTAA	0.483000														10			29		0	0	0.008361	0	0
GALNT7	51809	broad.mit.edu	37	4	174225180	174225180	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:174225180C>T	uc003isz.4	+	7	1383	c.1300C>T	c.(1300-1302)Cct>Tct	p.P434S	GALNT7_uc011ckb.2_Missense_Mutation_p.P211S	NM_017423	NP_059119	Q86SF2	GALT7_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) (GALNT7), mRNA.	434	Catalytic subdomain B.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		ATTATTTGTTCCTTGTTCTCG	0.383000														78			40		0	0	0.006999	0	0
C10orf54	64115	broad.mit.edu	37	10	73533131	73533131	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:73533131G>C	uc001jsd.3	-	0	207	c.66C>G	c.(64-66)ttC>ttG	p.F22L	CDH23_uc001jrx.4_Intron|C10orf54_uc001jse.3_5'UTR	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN	Homo sapiens chromosome 10 open reading frame 54 (C10orf54), mRNA.	22						integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						ACGCAGCCAGGAAGAGAGCGA	0.677000														6			4		0	0	0.000602	0	0
PKP4	8502	broad.mit.edu	37	2	159488315	159488315	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:159488315C>T	uc002tzv.3	+	7	1464	c.1204C>T	c.(1204-1206)Cgt>Tgt	p.R402C	PKP4_uc002tzt.1_Missense_Mutation_p.R254C|PKP4_uc002tzu.3_Missense_Mutation_p.R402C|PKP4_uc002tzw.3_Missense_Mutation_p.R402C|PKP4_uc002tzx.3_Missense_Mutation_p.R60C|PKP4_uc002tzy.1_Missense_Mutation_p.R60C|PKP4_uc002tzz.1_Missense_Mutation_p.R400C|PKP4_uc002uaa.3_Missense_Mutation_p.R254C	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	402					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GCAAGACCTTCGTTCTGCCGT	0.493000										HNSCC(62;0.18)				106			31		0	0	0.012213	0	0
ABCA13	154664	broad.mit.edu	37	7	48528851	48528851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:48528851G>A	uc003toq.2	+	47	13225	c.13201G>A	c.(13201-13203)Ggt>Agt	p.G4401S	ABCA13_uc010kys.1_Missense_Mutation_p.G1476S|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Missense_Mutation_p.G131S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4401					transport	integral to membrane	ATP binding|ATPase activity	p.C4401S(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						TAATCAGAAGGGTTTTCATTC	0.378000														16			9		0	0	0.006214	0	0
FAM19A2	338811	broad.mit.edu	37	12	62147501	62147501	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:62147501A>G	uc001sqw.3	-	3	1868	c.286T>C	c.(286-288)Tgc>Cgc	p.C96R	FAM19A2_uc001sqv.3_Non-coding_Transcript|FAM19A2_uc001sqx.3_Missense_Mutation_p.C96R|FAM19A2_uc001sqy.3_Non-coding_Transcript	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 (FAM19A2), mRNA.	96						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TGCATATGGCACCACCATTTC	0.393000														58			37		0	0	0.009718	0	0
PRX	57716	broad.mit.edu	37	19	40901190	40901190	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:40901190G>A	uc002onr.3	-	6	3338	c.3069C>T	c.(3067-3069)ctC>ctT	p.L1023L	PRX_uc002onq.3_Silent_p.L884L|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	1023					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)			CAAACTTGGGGAGAGCAAACC	0.637000														52			33		0	0	0.003755	0	0
SGMS1	259230	broad.mit.edu	37	10	52071083	52071083	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:52071083C>T	uc001jje.3	-	8	1788	c.834G>A	c.(832-834)ggG>ggA	p.G278G	SGMS1_uc010qhk.2_Silent_p.G109G|SGMS1_uc009xot.1_Non-coding_Transcript|SGMS1_uc021pqn.1_Non-coding_Transcript|SGMS1_uc021pqo.1_3'UTR	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	284					apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						ACAGATAGTCCCCACACATGT	0.463000														34			12		0	0	0.010729	0	0
KCNQ4	9132	broad.mit.edu	37	1	41303398	41303398	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:41303398G>A	uc001cgh.2	+	12	1889	c.1807G>A	c.(1807-1809)Ggg>Agg	p.G603R	KCNQ4_uc001cgi.2_Missense_Mutation_p.G549R	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	603	A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			GGGCGACAAGGGGCCCTCCGA	0.652000														21			13		0	0	0.003163	0	0
DEFA6	1671	broad.mit.edu	37	8	6783482	6783482	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:6783482C>T	uc003wqt.3	-	0	117	c.76G>A	c.(76-78)Gat>Aat	p.D26N		NM_001926	NP_001917	Q01524	DEF6_HUMAN	Homo sapiens defensin, alpha 6, Paneth cell-specific (DEFA6), mRNA.	26					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		AGTGGATCATCCTCAGCTTGG	0.582000														23			11		0	0	0.008291	0	0
VANGL2	57216	broad.mit.edu	37	1	160389330	160389330	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:160389330C>T	uc001fwb.2	+	4	1030	c.731C>T	c.(730-732)cCt>cTt	p.P244L	VANGL2_uc001fwc.2_Missense_Mutation_p.P244L	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	Homo sapiens vang-like 2 (van gogh, Drosophila) (VANGL2), mRNA.	244					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGCTCCAGCCTCAGTTCACG	0.642000														35			20		0	0	0.012319	0	0
PCDHB9	56127	broad.mit.edu	37	5	140569225	140569225	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140569225G>A	uc003liw.1	+	1	2331	c.2331G>A	c.(2329-2331)agG>agA	p.R777R	PCDHB10_uc003lix.3_5'Flank	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	778					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCCCATAGGGGTGGGAAAG	0.443000														90			18		0	0	0.007413	0	0
UNC79	57578	broad.mit.edu	37	14	94053136	94053136	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:94053136C>T	uc001ybv.1	+	18	2466	c.2383C>T	c.(2383-2385)Ctt>Ttt	p.L795F	UNC79_uc001ybs.1_Missense_Mutation_p.L795F	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	972						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCCAGACATTCTTTTTAATAT	0.363000														56			36		0	0	0.004878	0	0
XIRP1	165904	broad.mit.edu	37	3	39229316	39229316	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:39229316C>T	uc003cjk.2	-	1	1850	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	XIRP1_uc003cji.3_Missense_Mutation_p.E541K|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.E541K	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	541	Interaction with CTNNB1 (By similarity).						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GCCACCACTTCCTGCCGGGTG	0.607000														54			21		0	0	0.012319	0	0
ZMYND8	23613	broad.mit.edu	37	20	45905204	45905204	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:45905204G>A	uc010zxy.1	-	10	1437	c.1355C>T	c.(1354-1356)tCc>tTc	p.S452F	ZMYND8_uc010ghq.1_Missense_Mutation_p.S102F|ZMYND8_uc010ghr.1_Missense_Mutation_p.S400F|ZMYND8_uc002xst.1_Missense_Mutation_p.S400F|ZMYND8_uc002xsu.1_Missense_Mutation_p.S425F|ZMYND8_uc002xsv.1_Missense_Mutation_p.S400F|ZMYND8_uc002xsw.1_Missense_Mutation_p.S177F|ZMYND8_uc002xsx.1_Missense_Mutation_p.S177F|ZMYND8_uc002xsy.1_Missense_Mutation_p.S400F|ZMYND8_uc002xsz.1_Missense_Mutation_p.S362F|ZMYND8_uc002xta.1_Missense_Mutation_p.S425F|ZMYND8_uc002xtb.1_Missense_Mutation_p.S445F|ZMYND8_uc002xss.2_Missense_Mutation_p.S425F|ZMYND8_uc010zxz.1_Missense_Mutation_p.S420F|ZMYND8_uc002xtc.1_Missense_Mutation_p.S445F|ZMYND8_uc002xtd.1_Missense_Mutation_p.S420F|ZMYND8_uc002xte.1_Missense_Mutation_p.S425F|ZMYND8_uc010zya.1_Missense_Mutation_p.S425F|ZMYND8_uc002xtf.1_Missense_Mutation_p.S445F|ZMYND8_uc002xtg.3_Missense_Mutation_p.S419F|ZMYND8_uc010ghs.2_Missense_Mutation_p.S419F	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	425							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			ATCCGACAAGGAAATCCGGCG	0.592000														70			13		0	0	0.003163	0	0
PLEKHF2	79666	broad.mit.edu	37	8	96166839	96166839	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:96166839G>A	uc022ayk.1	+	0	567	c.567G>A	c.(565-567)aaG>aaA	p.K189K	PLEKHF2_uc003yhn.2_Silent_p.K189K	NM_024613	NP_078889	Q9H8W4	PKHF2_HUMAN	Homo sapiens pleckstrin homology domain containing, family F (with FYVE domain) member 2 (PLEKHF2), mRNA.	189						transport vesicle	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					GCTCTGAAAAGAGATTTCTTC	0.498000														480			319		0	0	0.014410	0	0
NAV3	89795	broad.mit.edu	37	12	78513580	78513580	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:78513580G>A	uc001syp.3	+	14	3777	c.3604G>A	c.(3604-3606)Gaa>Aaa	p.E1202K	NAV3_uc001syo.3_Missense_Mutation_p.E1202K|NAV3_uc010sub.2_Missense_Mutation_p.E702K|NAV3_uc009zsf.3_Missense_Mutation_p.E210K	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1202	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						CAAGGAAAAGGAAAAAGTAGC	0.527000										HNSCC(70;0.22)				54			21		0	0	0.008871	0	0
OR4M2	390538	broad.mit.edu	37	15	22369378	22369379	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:22369378_22369379CC>TT	uc010tzu.2	+	0	901_902	c.803_804CC>TT	c.(802-804)tcc>tTT	p.S268F	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.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S268F(2)		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)		GACTCGTTTTCCCTAGATAAAG	0.421000														52			27		0	0	0.004672	0	0
THOP1	7064	broad.mit.edu	37	19	2811680	2811680	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:2811680C>T	uc002lwj.3	+	11	2011	c.1856C>T	c.(1855-1857)tCc>tTc	p.S619F	THOP1_uc010xgz.2_Missense_Mutation_p.S498F|THOP1_uc002lwk.3_Missense_Mutation_p.S130F	NM_003249	NP_003240	P52888	THOP1_HUMAN	Homo sapiens thimet oligopeptidase 1 (THOP1), mRNA.	619					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		GAGGTGTATTCCATGGACATG	0.612000														41			26		0	0	0.004656	0	0
MGMT	4255	broad.mit.edu	37	10	131565116	131565116	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:131565116G>A	uc001lkh.2	+	4	598	c.572G>A	c.(571-573)gGa>gAa	p.G191E		NM_002412	NP_002403	B4DEE8	B4DEE8_HUMAN	Homo sapiens O-6-methylguanine-DNA methyltransferase (MGMT), mRNA.	191										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		AACTACTCCGGAGGACTGGCC	0.652000								Direct reversal of damage						22			7		0	0	0.003080	0	0
CYP4B1	1580	broad.mit.edu	37	1	47283644	47283644	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:47283644G>A	uc001cqn.4	+	9	1299	c.1215G>A	c.(1213-1215)ctG>ctA	p.L405L	CYP4B1_uc001cqm.4_Silent_p.L404L|CYP4B1_uc009vym.3_Silent_p.L390L|CYP4B1_uc010omk.2_Silent_p.L241L	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	404					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CAGGAAGCCTGATCTCTATGC	0.567000														114			58		0	0	0.014410	0	0
PRODH2	58510	broad.mit.edu	37	19	36293158	36293158	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:36293158G>A	uc002obx.1	-	9	1379	c.1361C>T	c.(1360-1362)cCt>cTt	p.P454L		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	454					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCATCCAGAGGAATGCCCAG	0.547000														79			39		0	0	0.008740	0	0
SHROOM3	57619	broad.mit.edu	37	4	77676179	77676179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:77676179C>T	uc011cbx.2	+	6	5496	c.4543C>T	c.(4543-4545)Ccc>Tcc	p.P1515S	SHROOM3_uc003hkg.3_Missense_Mutation_p.P1293S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1515					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGATCCGCACCCCAAGGCCAC	0.587000														41			26		0	0	0.008361	0	0
CACNA1G	8913	broad.mit.edu	37	17	48696344	48696344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:48696344C>T	uc002irk.1	+	32	6128	c.5756C>T	c.(5755-5757)tCc>tTc	p.S1919F	CACNA1G_uc002irj.1_Missense_Mutation_p.S1885F|CACNA1G_uc002irl.1_Missense_Mutation_p.S1896F|CACNA1G_uc002irm.1_Missense_Mutation_p.S1885F|CACNA1G_uc002irn.1_Missense_Mutation_p.S1878F|CACNA1G_uc002iro.1_Missense_Mutation_p.S1885F|CACNA1G_uc002irp.1_Missense_Mutation_p.S1919F|CACNA1G_uc002irq.1_Missense_Mutation_p.S1896F|CACNA1G_uc002irr.1_Missense_Mutation_p.S1919F|CACNA1G_uc002irs.1_Missense_Mutation_p.S1908F|CACNA1G_uc002irt.1_Missense_Mutation_p.S1901F|CACNA1G_uc002iru.1_Missense_Mutation_p.S1885F|CACNA1G_uc002irv.1_Missense_Mutation_p.S1908F|CACNA1G_uc002irw.1_Missense_Mutation_p.S1896F|CACNA1G_uc002irx.1_Missense_Mutation_p.S1832F|CACNA1G_uc002iry.1_Missense_Mutation_p.S1821F|CACNA1G_uc002isg.1_Missense_Mutation_p.S1780F|CACNA1G_uc002ish.1_Missense_Mutation_p.S1787F|CACNA1G_uc002isi.1_Missense_Mutation_p.S1775F|CACNA1G_uc002irz.1_Missense_Mutation_p.S1825F|CACNA1G_uc002isa.1_Missense_Mutation_p.S1798F|CACNA1G_uc002isd.1_Missense_Mutation_p.S1807F|CACNA1G_uc002isb.1_Missense_Mutation_p.S1839F|CACNA1G_uc002isc.1_Missense_Mutation_p.S1821F|CACNA1G_uc002ise.1_Missense_Mutation_p.S1787F|CACNA1G_uc002isf.1_Missense_Mutation_p.S1814F	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1919					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGATCAGCCTCCCACTTTTCC	0.711000														9			4		0	0	0.000602	0	0
PRTG	283659	broad.mit.edu	37	15	55972763	55972763	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:55972763G>A	uc002adg.3	-	4	788	c.740C>T	c.(739-741)tCt>tTt	p.S247F		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	247	Ig-like 3.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CTGATGAAGAGATGTTGTTAT	0.383000														84			51		0	0	0.014410	0	0
TEC	7006	broad.mit.edu	37	4	48147206	48147206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:48147206G>A	uc003gxz.3	-	13	1451	c.1360C>T	c.(1360-1362)Ctc>Ttc	p.L454F		NM_003215	NP_003206	P42680	TEC_HUMAN	Homo sapiens tec protein tyrosine kinase (TEC), mRNA.	454	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CTCTGTCGGAGGAAATTCAGA	0.473000														85			45		0	0	0.008740	0	0
PCDH18	54510	broad.mit.edu	37	4	138449647	138449647	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:138449647C>T	uc003ihe.4	-	2	3112	c.2725G>A	c.(2725-2727)Gga>Aga	p.G909R	PCDH18_uc003ihf.4_Missense_Mutation_p.G901R|PCDH18_uc011cgz.2_Missense_Mutation_p.G120R|PCDH18_uc003ihg.4_Missense_Mutation_p.G688R|PCDH18_uc011cha.2_Missense_Mutation_p.G89R	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	909	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGAATTCTTCCATCTGTGAGA	0.418000														151			84		0	0	0.014410	0	0
SUPT6H	6830	broad.mit.edu	37	17	27010091	27010091	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:27010091C>T	uc010crt.3	+	15	2051	c.1859C>T	c.(1858-1860)cCc>cTc	p.P620L	SUPT6H_uc002hby.3_Missense_Mutation_p.P620L	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	620					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AATATAACCCCCACCAAGAAA	0.532000														7			3		0	0	0.004672	0	0
HHAT	55733	broad.mit.edu	37	1	210761357	210761357	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:210761357T>C	uc010psr.2	+	8	1267	c.1162T>C	c.(1162-1164)Tgc>Cgc	p.C388R	HHAT_uc009xcx.3_Missense_Mutation_p.C387R|HHAT_uc010psq.2_Missense_Mutation_p.C250R|HHAT_uc009xcy.3_Missense_Mutation_p.C322R|HHAT_uc010pss.2_Missense_Mutation_p.C342R|HHAT_uc010pst.2_Missense_Mutation_p.C324R|HHAT_uc001hhz.4_Missense_Mutation_p.C387R|HHAT_uc021pip.1_Missense_Mutation_p.C387R|HHAT_uc010psu.2_Missense_Mutation_p.C322R|HHAT_uc001hia.4_Missense_Mutation_p.C77R	NM_001170587	NP_001164058	Q5VTY9	HHAT_HUMAN	Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA.	387					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CTACCTCTGGTGCTGGGCAGC	0.602000														23			23		0	0	0.012319	0	0
ABCB1	5243	broad.mit.edu	37	7	87175289	87175289	+	Missense_Mutation	SNP	G	A	A	rs28381914		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:87175289G>A	uc003uiz.2	-	15	2270	c.1777C>T	c.(1777-1779)Cgt>Tgt	p.R593C	ABCB1_uc011khc.2_Missense_Mutation_p.R529C	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	593	ABC transporter 1.		R -> C (in dbSNP:rs28381914).		G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TCAGCATTACGAACTGTAGAC	0.393000														55			30		0	0	0.008361	0	0
COL5A1	1289	broad.mit.edu	37	9	137717665	137717665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:137717665G>A	uc004cfe.3	+	62	5364	c.4982G>A	c.(4981-4983)gGa>gAa	p.G1661E	BC058547_uc004cff.3_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1661	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCTAACCAAGGATGCTCCAGG	0.562000														11			26		0	0	0.012213	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585187	70585187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:70585187G>A	uc003xyl.3	-	9	3171	c.2464C>T	c.(2464-2466)Ccg>Tcg	p.P822S	SLCO5A1_uc010lzb.3_Missense_Mutation_p.P767S|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	822						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AAGGGCCCCGGGTAGGTCTGT	0.592000														68			46		0	0	0.014410	0	0
FBXL16	146330	broad.mit.edu	37	16	746997	746997	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:746997G>A	uc021taa.1	-	1	737	c.409C>T	c.(409-411)Ctc>Ttc	p.L137F	FBXL16_uc002cja.3_5'Flank|FBXL16_uc002cjb.3_5'Flank	NM_153350	NP_699181	Q8N461	FXL16_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 16 (FBXL16), mRNA.	137	F-box.									endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				ACCGGCGTGAGGCCTGCCCAG	0.632000														22			15		0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179438459	179438459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179438459C>T	uc021vsy.1	-	274	64921	c.64696G>A	c.(64696-64698)Gaa>Aaa	p.E21566K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E15261K|TTN_uc021vta.1_Missense_Mutation_p.E15194K|TTN_uc021vtb.1_Missense_Mutation_p.E15069K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22493	Fibronectin type-III 56.						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)			GATGTCACTTCAGTTACAGCC	0.443000														52			54		0	0	0.014410	0	0
C19orf6	91304	broad.mit.edu	37	19	1013325	1013325	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:1013325G>A	uc002lqr.1	-	2	668	c.522C>T	c.(520-522)atC>atT	p.I174I	C19orf6_uc021ume.1_5'Flank|C19orf6_uc002lqs.1_Silent_p.I174I	NM_001033026	NP_001028198	Q4ZIN3	MBRL_HUMAN	Homo sapiens chromosome 19 open reading frame 6 (C19orf6), transcript variant 1, mRNA.	174						cytoplasm|integral to membrane				breast(1)|cervix(1)|endometrium(3)|lung(2)|ovary(1)|pancreas(2)|skin(1)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.0252)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTGGGCTCGATGTCCAGCT	0.632000														48			24		0	0	0.003330	0	0
RGS6	9628	broad.mit.edu	37	14	72976970	72976970	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:72976970C>T	uc001xna.4	+	13	1597	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F	RGS6_uc021rvv.1_Silent_p.F323F|RGS6_uc010ttn.2_Silent_p.F358F|RGS6_uc021rvw.1_Silent_p.F358F|RGS6_uc021rvx.1_Silent_p.F358F|RGS6_uc021rvy.1_Silent_p.F321F|RGS6_uc021rvz.1_Silent_p.F321F|RGS6_uc001xmy.4_Silent_p.F358F|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Silent_p.F358F|RGS6_uc021rwa.1_Silent_p.F321F|RGS6_uc021rwb.1_Silent_p.F321F|RGS6_uc010ttp.1_Silent_p.F289F|RGS6_uc021rwc.1_Silent_p.F219F	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	358	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		AGTCCGAATTCAGTTCAGAAA	0.468000														98			61		0	0	0.014410	0	0
MAPKAPK2	9261	broad.mit.edu	37	1	206902411	206902411	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:206902411C>T	uc001hem.2	+	2	661	c.451C>T	c.(451-453)Cag>Tag	p.Q151*	MAPKAPK2_uc001hel.2_Nonsense_Mutation_p.Q151*	NM_032960	NP_116584	P49137	MAPK2_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 2 (MAPKAPK2), transcript variant 2, mRNA.	151	Protein kinase.				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|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|nerve growth factor receptor signaling pathway|prostanoid metabolic process|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|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TAGCCGAATCCAGGATCGAGG	0.567000														30			12		0	0	0.003163	0	0
IGSF22	283284	broad.mit.edu	37	11	18739491	18739491	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:18739491C>T	uc009yht.2	-	8	1150	c.960G>A	c.(958-960)gaG>gaA	p.E320E	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	320	Ig-like 2.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GCACTGTGAGCTCTGCACTCA	0.547000														70			14		0	0	0.004007	0	0
SCG3	29106	broad.mit.edu	37	15	51993416	51993416	+	Silent	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:51993416A>G	uc002abh.3	+	9	1585	c.1182A>G	c.(1180-1182)ccA>ccG	p.P394P	SCG3_uc010ufz.2_Silent_p.P162P	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	394					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		ACTCCAACCCAGGAGGAAAGA	0.433000														54			25		0	0	0.003954	0	0
TNFRSF14	8764	broad.mit.edu	37	1	2493252	2493252	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:2493252G>A	uc001ajr.3	+	5	991	c.692G>A	c.(691-693)aGg>aAg	p.R231K	TNFRSF14_uc001ajt.1_3'UTR	NM_003820	NP_003811	Q92956	TNR14_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 14 (TNFRSF14), mRNA.	231					T cell costimulation|immune response|interspecies interaction between organisms		tumor necrosis factor receptor activity			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		AGAAAGCCAAGGGGTGAGCAC	0.572000			"""Mis, N, F"""		follicular lymphoma									76			40		0	0	0.011902	0	0
SLC6A18	348932	broad.mit.edu	37	5	1242957	1242957	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:1242957C>T	uc003jby.2	+	7	1233	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	370					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AGGCCTGCCTCCTGGAAGACT	0.657000														48			24		0	0	0.005443	0	0
BCL7C	9274	broad.mit.edu	37	16	30900257	30900257	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:30900257C>G	uc021tgq.1	-	4	586	c.452G>C	c.(451-453)gGc>gCc	p.G151A	BC073928_uc002dzu.3_Non-coding_Transcript|BCL7C_uc002dzv.3_Missense_Mutation_p.G151A	NM_004765	NP_004756	Q8WUZ0	BCL7C_HUMAN	Homo sapiens B-cell CLL/lymphoma 7C (BCL7C), mRNA.	151	Pro-rich.				apoptosis					large_intestine(1)|lung(3)|prostate(1)|skin(1)	6			Colorectal(24;0.198)			AGCAGTTATGCCCCCGGGATC	0.587000														76			10		0	0	0.001855	0	0
DNAH9	1770	broad.mit.edu	37	17	11592929	11592929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:11592929G>A	uc002gne.3	+	19	3858	c.3790G>A	c.(3790-3792)Gag>Aag	p.E1264K	DNAH9_uc010coo.3_Missense_Mutation_p.E558K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1264	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)		CAGGCACATCGAGATCCAGCA	0.493000														39			48		0	0	0.014410	0	0
POP1	10940	broad.mit.edu	37	8	99142337	99142337	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:99142337C>T	uc003yij.4	+	4	718	c.618C>T	c.(616-618)atC>atT	p.I206I	POP1_uc011lgv.2_Silent_p.I206I|POP1_uc003yik.3_Silent_p.I206I	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	206					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AAACTCACATCTGGCACGCCA	0.463000														38			14		0	0	0.002450	0	0
MIR1324	100302212	broad.mit.edu	37	3	75679957	75679957	+	RNA	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:75679957C>T	uc021xar.1	+	0		c.44C>T								Homo sapiens microRNA 1324 (MIR1324), microRNA.																		CACTGGGAACCCCCTTCCCTC	0.527000														97			6		0	0	0.004482	0	0
CD44	960	broad.mit.edu	37	11	35198190	35198190	+	Missense_Mutation	SNP	C	T	T	rs121909545		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:35198190C>T	uc001mvu.3	+	1	570	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W	CD44_uc021qfw.1_Missense_Mutation_p.R46W|CD44_uc001mvv.3_Missense_Mutation_p.R46W|CD44_uc001mvw.3_Missense_Mutation_p.R46W|CD44_uc001mwc.4_Missense_Mutation_p.R46W|CD44_uc001mvx.3_Missense_Mutation_p.R46W|CD44_uc010rer.2_Missense_Mutation_p.R46W|CD44_uc001mvy.3_Missense_Mutation_p.R46W|CD44_uc009ykh.3_Non-coding_Transcript	NM_000610	NP_000601	P16070	CD44_HUMAN	Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	46	Link.		R -> P (in In(A) antigen).		cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	Golgi apparatus|cell surface|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	p.S45S(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	CAGCATCTCTCGGACGGAGGC	0.478000														28			10		0	0	0.006214	0	0
VPS13B	157680	broad.mit.edu	37	8	100847802	100847802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:100847802C>T	uc003yiv.3	+	53	9964	c.9853C>T	c.(9853-9855)Ccc>Tcc	p.P3285S	VPS13B_uc003yiw.3_Missense_Mutation_p.P3260S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3285					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAAAAAAATTCCCTCCGAGTG	0.388000														59			32		0	0	0.013726	0	0
VRTN	55237	broad.mit.edu	37	14	74823753	74823753	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:74823753G>A	uc021rwl.1	+	0	267	c.267G>A	c.(265-267)gcG>gcA	p.A89A	VRTN_uc001xpw.4_Silent_p.A89A	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	89					transposition, DNA-mediated		DNA binding|transposase activity	p.A89V(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TGTTCGAGGCGGCCAGCATGC	0.647000														26			15		0	0	0.003163	0	0
DMXL1	1657	broad.mit.edu	37	5	118484798	118484798	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:118484798C>T	uc010jcl.1	+	17	3457	c.3276C>T	c.(3274-3276)gtC>gtT	p.V1092V	DMXL1_uc003ksd.2_Silent_p.V1092V|DMXL1_uc021ycw.1_Silent_p.V919V	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1092										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CATGTTGGGTCCTTGAGCAGA	0.373000														71			51		0	0	0.014410	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128626	68128626	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:68128626G>A	uc002jiq.3	+	2	634	c.494G>A	c.(493-495)gGa>gAa	p.G165E	KCNJ16_uc002jin.3_Missense_Mutation_p.G133E|KCNJ16_uc002jio.3_Missense_Mutation_p.G133E|KCNJ16_uc002jip.3_Missense_Mutation_p.G133E|KCNJ16_uc021uch.1_Missense_Mutation_p.G133E	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA.	133					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					ACCACCATAGGATATGGTTAT	0.438000														30			24		0	0	0.014323	0	0
NTN3	4917	broad.mit.edu	37	16	2522769	2522769	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:2522769C>T	uc002cqj.3	+	1	1199	c.996C>T	c.(994-996)cgC>cgT	p.R332R	TBC1D24_uc002cql.3_5'Flank|TBC1D24_uc002cqk.3_5'Flank	NM_006181	NP_006172	O00634	NET3_HUMAN	Homo sapiens netrin 3 (NTN3), mRNA.	332	Laminin EGF-like 2.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix		p.R332R(2)		breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						TGTCCGGCCGCCGCAGCGGGG	0.687000														39			13		0	0	0.004990	0	0
SLC26A8	116369	broad.mit.edu	37	6	35923261	35923261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:35923261G>A	uc003olm.3	-	16	2011	c.1900C>T	c.(1900-1902)Ccc>Tcc	p.P634S	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.P216S|SLC26A8_uc003oll.3_Missense_Mutation_p.P529S|SLC26A8_uc003oln.3_Missense_Mutation_p.P634S	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	634	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			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						GATGCTTCGGGATCCAGTTTA	0.473000														46			32		0	0	0.010818	0	0
MIR135B	442891	broad.mit.edu	37	1	205417440	205417440	+	RNA	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:205417440C>T	uc010prh.1	-	0		c.87G>A								Homo sapiens microRNA 135b (MIR135B), microRNA.																		GGAGCTCGCCCCTCACTGTAG	0.602000														84			48		0	0	0.014410	0	0
CTU2	348180	broad.mit.edu	37	16	88781504	88781504	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:88781504C>T	uc010chz.3	+	13	1729	c.1681C>T	c.(1681-1683)Cgc>Tgc	p.R561C	CTU2_uc002flm.3_Missense_Mutation_p.R490C|CTU2_uc002fln.3_Intron|CTU2_uc010cia.3_Missense_Mutation_p.R403C	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN	Homo sapiens cytosolic thiouridylase subunit 2 homolog (S. pombe) (CTU2), transcript variant 1, mRNA.	490					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						GGCCCAGCTCCGCACACAGAG	0.682000														23			9		0	0	0.004482	0	0
EVPL	2125	broad.mit.edu	37	17	74015007	74015007	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:74015007C>T	uc010wss.1	-	10	1500	c.1272G>A	c.(1270-1272)tgG>tgA	p.W424*	EVPL_uc002jqi.2_Nonsense_Mutation_p.W424*|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	424	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTCCTGAGTCCCAGTCGCAGA	0.682000														29			23		0	0	0.010818	0	0
CPA1	1357	broad.mit.edu	37	7	130020289	130020290	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:130020289_130020290CC>TT	uc003vpx.3	+	1	1	c.-71_splice	c.e1-1		CPA1_uc011kpf.1_Splice_Site|CPA1_uc003vpw.2_Splice_Site	NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.						proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					AGCCAGGAGTCCTCGGTCCTGG	0.649000														38			11		0	0	0.004672	0	0
SEMA4G	57715	broad.mit.edu	37	10	102739941	102739941	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:102739941C>T	uc001krw.2	+	9	1575	c.1191C>T	c.(1189-1191)gtC>gtT	p.V397V	SEMA4G_uc001krv.3_Non-coding_Transcript|SEMA4G_uc010qpt.1_Silent_p.V397V|SEMA4G_uc001krx.3_Silent_p.V397V|MRPL43_uc001kry.1_Intron|MRPL43_uc010qpu.1_Intron	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G (SEMA4G), transcript variant 1, mRNA.	397	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CATCCCTGGTCCTGGACTTTG	0.572000														27			9		0	0	0.008291	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30690846	30690846	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:30690846G>A	uc010gvu.3	-	5	750	c.665C>T	c.(664-666)gCc>gTc	p.A222V	TBC1D10A_uc003ahf.3_Non-coding_Transcript|TBC1D10A_uc003ahg.3_Non-coding_Transcript|TBC1D10A_uc003ahh.3_Non-coding_Transcript|TBC1D10A_uc003ahi.3_Missense_Mutation_p.A73V|TBC1D10A_uc010gvq.3_Non-coding_Transcript|TBC1D10A_uc003ahk.4_Missense_Mutation_p.A215V	NM_001204240	NP_001191169	Q9BXI6	TB10A_HUMAN	Homo sapiens TBC1 domain family, member 10A (TBC1D10A), transcript variant 1, mRNA.	215	Rab-GAP TBC.					intracellular|microvillus	PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GCACCAGAAGGCTTGCTGTGG	0.632000														29			15		0	0	0.004007	0	0
SLC12A5	57468	broad.mit.edu	37	20	44672309	44672310	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:44672309_44672310GG>AA	uc010zxl.1	+	9	1420_1421	c.1344_1345GG>AA	c.(1342-1347)agggat>agAAat	p.D449N	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.D426N	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	449					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.S449F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGGACCTGAGGGATGCCCAGAA	0.594000														74			23		0	0	0.004672	0	0
OR52B2	255725	broad.mit.edu	37	11	6191050	6191050	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:6191050G>A	uc010qzy.2	-	0	507	c.507C>T	c.(505-507)ccC>ccT	p.P169P		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTAGGCAGAAGGGCAGCCGCT	0.502000														39			15		0	0	0.002450	0	0
XCL1	6375	broad.mit.edu	37	1	168549308	168549308	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:168549308G>A	uc001gfo.2	+	1	234	c.69G>A	c.(67-69)ggG>ggA	p.G23G		NM_002995	NP_002986	P47992	XCL1_HUMAN	Homo sapiens chemokine (C motif) ligand 1 (XCL1), mRNA.	23					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of B cell chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of activated T cell proliferation|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					CAGGTGTAGGGAGTGAAGTCT	0.433000														42			35		0	0	0.004289	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013082	73013082	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:73013082C>T	uc003hgg.2	+	3	1220	c.1122C>T	c.(1120-1122)atC>atT	p.I374I	NPFFR2_uc010iig.2_Silent_p.I156I|NPFFR2_uc003hgi.2_Silent_p.I275I|NPFFR2_uc003hgh.2_Silent_p.I272I	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	374					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)			AGCAGAAGATCATTAAGATGC	0.498000														47			17		0	0	0.004007	0	0
TFEC	22797	broad.mit.edu	37	7	115580967	115580967	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:115580967G>A	uc003vhj.2	-	7	935	c.682C>T	c.(682-684)Cgt>Tgt	p.R228C	TFEC_uc003vhm.2_Missense_Mutation_p.R161C|TFEC_uc003vhk.2_Missense_Mutation_p.R199C|TFEC_uc003vhl.4_3'UTR|TFEC_uc011kmw.2_3'UTR	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	228						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.A227S(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CCATGAGTACGAGCCTGAATT	0.398000														67			26		0	0	0.006320	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136877	40136877	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:40136877C>T	uc021qgf.1	-	0	966	c.966G>A	c.(964-966)tcG>tcA	p.S322S	LRRC4C_uc001mxc.1_Silent_p.S318S|LRRC4C_uc001mxd.1_Silent_p.S318S|LRRC4C_uc001mxa.1_Silent_p.S322S|LRRC4C_uc001mxb.1_Silent_p.S318S	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	322	LRRCT.				regulation of axonogenesis	integral to membrane	protein binding	p.S322S(2)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAGCTGTGTTCGAGGGGGCCA	0.493000														16			18		0	0	0.004990	0	0
OR51D1	390038	broad.mit.edu	37	11	4661336	4661336	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:4661336G>A	uc010qyk.2	+	0	392	c.316G>A	c.(316-318)Gag>Aag	p.E106K		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAGGAGATCGAGTTCAACAT	0.532000														34			19		0	0	0.007413	0	0
VNN1	8876	broad.mit.edu	37	6	133013564	133013564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:133013564C>T	uc003qdo.3	-	4	1006	c.986G>A	c.(985-987)gGa>gAa	p.G329E		NM_004666	NP_004657	O95497	VNN1_HUMAN	Homo sapiens vanin 1 (VNN1), mRNA.	329					acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TTCCTTGTTTCCTGATGAGAG	0.453000														25			15		0	0	0.004007	0	0
CCDC147	159686	broad.mit.edu	37	10	106160609	106160609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:106160609C>T	uc001kyh.3	+	12	2121	c.1987C>T	c.(1987-1989)Cgc>Tgc	p.R663C		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	663								p.R663H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CAAGAAGCTTCGCCGGGAAAA	0.478000														43			17		0	0	0.006122	0	0
SOBP	55084	broad.mit.edu	37	6	107954978	107954978	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:107954978G>A	uc003prx.3	+	5	1434	c.930G>A	c.(928-930)aaG>aaA	p.K310K		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	Homo sapiens sine oculis binding protein homolog (Drosophila) (SOBP), mRNA.	310							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CTCGGAGGAAGGCCCCCTCCC	0.602000														33			23		0	0	0.014323	0	0
PAPPA	5069	broad.mit.edu	37	9	118974146	118974146	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:118974146G>A	uc004bjn.3	+	3	2234	c.1853G>A	c.(1852-1854)gGa>gAa	p.G618E	PAPPA_uc011lxp.1_Intron|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	618					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCAGGGCCAGGAAATGACACC	0.532000														69			97		0	0	0.014410	0	0
DPYS	1807	broad.mit.edu	37	8	105459710	105459710	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:105459710G>A	uc003yly.4	-	2	574	c.445C>T	c.(445-447)Ctt>Ttt	p.L149F		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	149					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	p.I148F(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCTTGCACAAGGATTTTCATT	0.363000														40			6		0	0	0.001168	0	0
XPO5	57510	broad.mit.edu	37	6	43526285	43526285	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:43526285G>A	uc003ovp.3	-	11	1476	c.1265C>T	c.(1264-1266)tCt>tTt	p.S422F		NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	Homo sapiens exportin 5 (XPO5), mRNA.	422					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			ATCAAACCGAGAATATTCACA	0.423000														13			9		0	0	0.004482	0	0
SCN10A	6336	broad.mit.edu	37	3	38739464	38739464	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:38739464C>T	uc003ciq.3	-	26	5247	c.5247G>A	c.(5245-5247)gaG>gaA	p.E1749E		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1749					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)	GGTCAAACTTCTCCCAGGTCT	0.498000														67			26		0	0	0.005443	0	0
CACNB2	783	broad.mit.edu	37	10	18828607	18828607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:18828607G>A	uc001ipr.2	+	13	1997	c.1937G>A	c.(1936-1938)cGg>cAg	p.R646Q	CACNB2_uc001ipt.2_Missense_Mutation_p.R608Q|CACNB2_uc009xjz.1_Missense_Mutation_p.R396Q|CACNB2_uc001ips.2_Missense_Mutation_p.R622Q|CACNB2_uc001ipu.3_Missense_Mutation_p.R618Q|CACNB2_uc001ipv.3_Missense_Mutation_p.R594Q|CACNB2_uc009xka.2_Missense_Mutation_p.R580Q|CACNB2_uc001ipw.2_Missense_Mutation_p.R553Q|CACNB2_uc001ipx.2_Missense_Mutation_p.R591Q|CACNB2_uc001ipz.2_Missense_Mutation_p.R568Q|CACNB2_uc001ipy.2_Missense_Mutation_p.R592Q|CACNB2_uc010qco.1_Missense_Mutation_p.R560Q|CACNB2_uc001iqa.2_Missense_Mutation_p.R598Q|NSUN6_uc001iqb.3_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	646					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCAAAAAAACGGAATGAGGCT	0.428000														48			40		0	0	0.011902	0	0
CDK18	5129	broad.mit.edu	37	1	205496927	205496927	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:205496927C>T	uc001hcr.3	+	8	1087	c.825C>T	c.(823-825)ttC>ttT	p.F275F	CDK18_uc001hcp.3_Silent_p.F245F|CDK18_uc001hcq.3_Silent_p.F245F|CDK18_uc010prj.2_Silent_p.F156F|CDK18_uc001hcs.3_Silent_p.F156F|CDK18_uc009xbm.1_Silent_p.F170F	NM_212503	NP_997668	Q07002	CDK18_HUMAN	Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA.	243	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CCCAGATTTTCATGTTCCAGC	0.637000														44			23		0	0	0.012319	0	0
HYDIN	54768	broad.mit.edu	37	16	71127753	71127753	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:71127753C>T	uc002ezr.3	-	10	1564	c.1413G>A	c.(1411-1413)ggG>ggA	p.G471G	HYDIN_uc010cfz.2_Silent_p.G216G|HYDIN_uc021tkq.1_Silent_p.G471G|HYDIN_uc010vmc.2_Silent_p.G488G|HYDIN_uc010vmd.2_Silent_p.G498G|HYDIN_uc002ezw.4_Silent_p.G488G	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	471										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)				TGAAAACTTTCCCAATATCCA	0.413000														26			20		0	0	0.002780	0	0
TAS2R42	353164	broad.mit.edu	37	12	11339232	11339232	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:11339232G>A	uc001qzr.1	-	0	312	c.312C>T	c.(310-312)agC>agT	p.S104S	PRB4_uc001qzf.1_Intron	NM_181429	NP_852094	Q7RTR8	T2R42_HUMAN	Homo sapiens taste receptor, type 2, member 42 (TAS2R42), mRNA.	104					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			AATAGAAAATGCTTAGGCAGG	0.403000														21			14		0	0	0.001855	0	0
LAMA5	3911	broad.mit.edu	37	20	60903975	60903975	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:60903975G>A	uc002ycq.3	-	33	4439	c.4372C>T	c.(4372-4374)Ccc>Tcc	p.P1458S	LAMA5_uc021wfw.1_Missense_Mutation_p.P1458S	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1458	Laminin EGF-like 12.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCATGGCAGGGACACTGGCCC	0.637000														48			29		0	0	0.008361	0	0
GALNTL5	168391	broad.mit.edu	37	7	151711745	151711745	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:151711745G>A	uc003wkp.3	+	7	1313	c.1043G>A	c.(1042-1044)gGc>gAc	p.G348D	GALNTL5_uc010lqf.3_Missense_Mutation_p.G237D|GALNTL5_uc003wkq.3_Missense_Mutation_p.G99D|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA.	348	Catalytic subdomain B.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	p.G347R(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		ATGTGTGGAGGCCAACTCTTT	0.388000														56			24		0	0	0.004656	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820652	35820652	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:35820652C>T	uc010ngt.1	+	1	618	c.339C>T	c.(337-339)ctC>ctT	p.L113L	MAGEB16_uc022bus.1_Silent_p.L113L	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	113	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CAGATGCTCTCGACCAGAAAG	0.438000														10			16		0	0	0.004990	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92844842	92844842	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:92844842G>A	uc011khy.2	-	3	679	c.656C>T	c.(655-657)tCc>tTc	p.S219F	HEPACAM2_uc003uml.3_Missense_Mutation_p.S184F|HEPACAM2_uc010lff.3_Missense_Mutation_p.S184F|HEPACAM2_uc003umm.3_Missense_Mutation_p.S196F	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	196	Ig-like C2-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GGGAGAAAAGGAGTAGGTGGA	0.502000														69			36		0	0	0.006230	0	0
C2orf57	165100	broad.mit.edu	37	2	232458440	232458440	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:232458440G>A	uc002vrz.3	+	0	866	c.778G>A	c.(778-780)Gac>Aac	p.D260N		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	Homo sapiens chromosome 2 open reading frame 57 (C2orf57), mRNA.	260										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		AAGGCCCCTGGACTCCAGCCT	0.647000														60			61		0	0	0.014410	0	0
SLC6A18	348932	broad.mit.edu	37	5	1239651	1239651	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:1239651C>T	uc003jby.2	+	5	942	c.819C>T	c.(817-819)atC>atT	p.I273I		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	273					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GAGGACACATCGCTTTTGCAA	0.582000														82			16		0	0	0.004990	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110450329	110450329	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:110450329G>A	uc001pkz.1	-	15	3626	c.3341C>T	c.(3340-3342)cCc>cTc	p.P1114L	ARHGAP20_uc001pky.1_Missense_Mutation_p.P1091L|ARHGAP20_uc009yyb.1_Missense_Mutation_p.P1078L|ARHGAP20_uc001pla.1_Missense_Mutation_p.P1078L|ARHGAP20_uc001plb.2_Missense_Mutation_p.P657L	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	1114					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GTCCTGGAAGGGAGAAGAACT	0.512000														28			47		0	0	0.013114	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021110	142021110	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:142021110G>A	uc011krr.1	+	1	275	c.90G>A	c.(88-90)ctG>ctA	p.L30L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krq.1_Silent_p.L30L					SubName: Full=V_segment translation product; Flags: Fragment;																		CAAGATATCTGATCAAAACGA	0.547000														23			15		0	0	0.003163	0	0
TENC1	23371	broad.mit.edu	37	12	53453118	53453118	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:53453118G>T	uc001sbp.3	+	17	1828	c.1693G>T	c.(1693-1695)Gat>Tat	p.D565Y	TENC1_uc001sbl.3_Missense_Mutation_p.D441Y|TENC1_uc001sbn.3_Missense_Mutation_p.D575Y|TENC1_uc001sbq.3_Missense_Mutation_p.D60Y|TENC1_uc001sbr.3_Non-coding_Transcript|TENC1_uc009zmr.3_Missense_Mutation_p.D60Y	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	565					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GGCCATCCTAGATGACGAAGA	0.697000														9			8		5.4927e-09	6.07275e-09	0.004482	1	0
OR2T3	343173	broad.mit.edu	37	1	248637457	248637457	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:248637457C>T	uc001iel.1	+	0	806	c.806C>T	c.(805-807)tCc>tTc	p.S269F		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCCCGAGTTCCTACCACACA	0.552000														285			76		0	0	0.014410	0	0
PACS1	55690	broad.mit.edu	37	11	65988193	65988193	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:65988193A>G	uc001oha.2	+	8	1264	c.1130A>G	c.(1129-1131)aAc>aGc	p.N377S		NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	377					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GAGATGTACAACCCCAGCGAC	0.582000														43			10		0	0	0.010729	0	0
TP63	8626	broad.mit.edu	37	3	189586470	189586470	+	Missense_Mutation	SNP	C	T	T	rs147148566		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:189586470C>T	uc003fry.2	+	7	1183	c.1094C>T	c.(1093-1095)tCg>tTg	p.S365L	TP63_uc003frx.2_Missense_Mutation_p.S365L|TP63_uc003frz.2_Missense_Mutation_p.S365L|TP63_uc010hzc.1_Missense_Mutation_p.S365L|TP63_uc003fsa.2_Missense_Mutation_p.S271L|TP63_uc003fsb.2_Missense_Mutation_p.S271L|TP63_uc003fsc.2_Missense_Mutation_p.S271L|TP63_uc003fsd.2_Missense_Mutation_p.S271L|TP63_uc021xir.1_Missense_Mutation_p.S271L|TP63_uc010hzd.1_Missense_Mutation_p.S186L|TP63_uc003fse.1_Missense_Mutation_p.S246L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	365	Interaction with HIPK2.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S365L(6)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CAGCAAGTTTCGGACAGTACA	0.537000										HNSCC(45;0.13)				50			19		0	0	0.007413	0	0
MDGA1	266727	broad.mit.edu	37	6	37615001	37615001	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:37615001C>T	uc003onu.1	-	9	3173	c.1994G>A	c.(1993-1995)aGg>aAg	p.R665K	MDGA1_uc003onv.1_5'UTR	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	665	Fibronectin type-III.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GTCGGGCTCCCTCTGAGTCCA	0.637000														4			3		0	0	0.009096	0	0
EFCAB6	64800	broad.mit.edu	37	22	43950943	43950943	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:43950943C>T	uc003bdy.2	-	26	3768	c.3454G>A	c.(3454-3456)Ggc>Agc	p.G1152S	EFCAB6_uc003bdz.2_Missense_Mutation_p.G1000S|EFCAB6_uc010gzi.2_Missense_Mutation_p.G1000S|EFCAB6_uc010gzj.1_Missense_Mutation_p.G378S	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.G1152D(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GGCGGCGGGCCTTTGGGCATT	0.532000														60			11		0	0	0.001855	0	0
MUC16	94025	broad.mit.edu	37	19	9071673	9071673	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9071673G>A	uc002mkp.3	-	2	15977	c.15773C>T	c.(15772-15774)tCc>tTc	p.S5258F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5260	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						CTTAATAGAGGAGGTGAAGAC	0.502000														83			42		0	0	0.010771	0	0
FGF3	2248	broad.mit.edu	37	11	69625419	69625419	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:69625419C>G	uc001oph.3	-	2	865	c.374G>C	c.(373-375)gGc>gCc	p.G125A		NM_005247	NP_005238	P11487	FGF3_HUMAN	Homo sapiens fibroblast growth factor 3 (FGF3), mRNA.	125					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			CGTATTATAGCCCAGCTCGTG	0.632000														33			21		0	0	0.003330	0	0
KERA	11081	broad.mit.edu	37	12	91445191	91445191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:91445191C>T	uc001tbl.3	-	2	1610	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	331					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GGTTTGATTTCATTTCCATCC	0.418000														41			10		0	0	0.008291	0	0
ABCC4	10257	broad.mit.edu	37	13	95858788	95858788	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:95858788G>A	uc001vmd.4	-	7	1278	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*	ABCC4_uc010afk.3_Nonsense_Mutation_p.Q387*|ABCC4_uc001vme.2_Nonsense_Mutation_p.Q387*|ABCC4_uc010tih.1_Nonsense_Mutation_p.Q312*|ABCC4_uc001vmf.2_Nonsense_Mutation_p.Q344*|ABCC4_uc010afl.1_Nonsense_Mutation_p.Q344*|ABCC4_uc010afm.1_Nonsense_Mutation_p.Q400*	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	387					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	ACACCAACCTGGATTCTTCGG	0.468000														56			36		0	0	0.006999	0	0
TMEM67	91147	broad.mit.edu	37	8	94828614	94828614	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:94828614C>T	uc011lgk.2	+	27	2993	c.2922C>T	c.(2920-2922)atC>atT	p.I974I	TMEM67_uc003yga.4_Silent_p.I893I|TMEM67_uc011lgl.2_Silent_p.I373I	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.	974					ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TTAGATATATCCGTAATACAG	0.259000														43			28		0	0	0.008361	0	0
PDE11A	50940	broad.mit.edu	37	2	178936654	178936654	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:178936654T>C	uc002ulq.3	-	0	829	c.511A>G	c.(511-513)Att>Gtt	p.I171V	PDE11A_uc002ulr.3_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	171					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GCACTGAGAATATGGGCTGTG	0.567000									Primary Pigmented Nodular Adrenocortical Disease, Familial					27			27		0	0	0.005443	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64695292	64695292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:64695292C>T	uc001obz.3	+	2	708	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	PPP2R5B_uc001oby.3_Missense_Mutation_p.R139W	NM_006244	NP_006235	Q15173	2A5B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', beta (PPP2R5B), mRNA.	139					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						GAATATCTTCCGGACTCTGCC	0.502000														62			21		0	0	0.014323	0	0
NBEA	26960	broad.mit.edu	37	13	35883726	35883726	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:35883726G>A	uc021rid.1	+	35	6434	c.5900G>A	c.(5899-5901)gGa>gAa	p.G1967E	NBEA_uc021ric.1_Missense_Mutation_p.G1964E|NBEA_uc010abi.3_Missense_Mutation_p.G623E	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1967						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATCAATGAAGGAAGGTAATTA	0.348000														11			7		0	0	0.003080	0	0
CACNG2	10369	broad.mit.edu	37	22	36962539	36962539	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:36962539C>T	uc003aps.2	-	3	365	c.296_splice	c.e3-1	p.R99_splice		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.	99					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.R99R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						CCCTCACGGCCCCTGTGGAAC	0.587000														31			14		0	0	0.004007	0	0
NEU2	4759	broad.mit.edu	37	2	233899191	233899191	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:233899191G>A	uc010zmn.2	+	1	567	c.567G>A	c.(565-567)agG>agA	p.R189R		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	189							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CCATCCAAAGGCCGATCCCCT	0.662000														30			34		0	0	0.003755	0	0
OR8A1	390275	broad.mit.edu	37	11	124440061	124440061	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:124440061G>A	uc010san.2	+	0	97	c.97G>A	c.(97-99)Ggt>Agt	p.G33S		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		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;0.0214)		CATTCTCAAGGGTTTAACGAA	0.522000														16			26		0	0	0.006320	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553181	140553181	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140553181C>T	uc003lit.3	+	0	939	c.765C>T	c.(763-765)agC>agT	p.S255S		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	255	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGAAAATAGCCCCGTTGGTT	0.507000														49			14		0	0	0.002450	0	0
HLA-A	3105	broad.mit.edu	37	6	29912088	29912088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:29912088C>T	uc003nol.3	+	3	893	c.809C>T	c.(808-810)gCt>gTt	p.A270V	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_5'Flank|HLA-A_uc021ytz.1_Missense_Mutation_p.A270V|HLA-A_uc010jrq.3_Missense_Mutation_p.A149V|HLA-A_uc003nok.3_Missense_Mutation_p.A149V|HLA-A_uc010klp.2_Missense_Mutation_p.A242V|HLA-A_uc011dmc.2_Missense_Mutation_p.A149V|HLA-A_uc011dmd.2_Missense_Mutation_p.A149V|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	270	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						AAGTGGGCGGCTGTGGTGGTG	0.622000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)				22			15		0	0	0.003330	0	0
PTPRJ	5795	broad.mit.edu	37	11	48149502	48149502	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:48149502C>T	uc001ngp.4	+	6	1619	c.1264C>T	c.(1264-1266)Ccc>Tcc	p.P422S	PTPRJ_uc001ngo.4_Missense_Mutation_p.P422S	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	422	Fibronectin type-III 4.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CGCTGTCATCCCCGGACTCCG	0.552000														59			34		0	0	0.003755	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302248	128302248	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:128302248C>T	uc003kuy.3	+	1	814	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	SLC27A6_uc003kuz.3_Missense_Mutation_p.R140C	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	140					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	p.R140L(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CACCAACATTCGCTCCAACTC	0.602000														18			6		0	0	0.001168	0	0
NLRP8	126205	broad.mit.edu	37	19	56463966	56463966	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:56463966G>A	uc002qmh.3	+	1	501	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	NLRP8_uc010etg.3_Missense_Mutation_p.E144K	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	144						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)		GAATCTGGAGGAAGGAGAATC	0.483000														72			27		0	0	0.010818	0	0
FAM174B	400451	broad.mit.edu	37	15	93173526	93173526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:93173526G>A	uc010boe.3	-	1	536	c.394C>T	c.(394-396)Cca>Tca	p.P132S	FAM174B_uc002bsl.4_Non-coding_Transcript	NM_207446	NP_997329	Q3ZCQ3	F174B_HUMAN	Homo sapiens family with sequence similarity 174, member B (FAM174B), mRNA.	132						integral to membrane				endometrium(2)|lung(1)	3						CGCTCTGCTGGAGTGGTGATG	0.473000														36			9		0	0	0.006214	0	0
CHDH	55349	broad.mit.edu	37	3	53853579	53853579	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:53853579T>C	uc003dgz.3	-	6	1684	c.1243A>G	c.(1243-1245)Acc>Gcc	p.T415A		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	Homo sapiens choline dehydrogenase (CHDH), nuclear gene encoding mitochondrial protein, mRNA.	415					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	TCCTGCTGGGTGGGGACCCGC	0.617000														80			36		0	0	0.009718	0	0
PSG7	5676	broad.mit.edu	37	19	43441217	43441217	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:43441217G>A	uc002ovl.4	-	0	114	c.12C>T	c.(10-12)ctC>ctT	p.L4L	PSG3_uc002ouf.3_5'Flank|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Silent_p.L4L	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	4					female pregnancy	extracellular region							Prostate(69;0.00682)				GAGGGGCTGAGAGGGGCCCCA	0.572000														71			35		0	0	0.010771	0	0
MYH13	8735	broad.mit.edu	37	17	10224979	10224979	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:10224979G>A	uc002gmk.1	-	23	3071	c.2981C>T	c.(2980-2982)tCc>tTc	p.S994F	MYH13_uc010vve.1_Missense_Mutation_p.S92F	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	994					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGTCAATTTGGAAATGTTTTC	0.373000														13			23		0	0	0.014323	0	0
FAT4	79633	broad.mit.edu	37	4	126411253	126411253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:126411253C>T	uc003ifj.4	+	16	13276	c.13276C>T	c.(13276-13278)Cct>Tct	p.P4426S	FAT4_uc011cgp.2_Missense_Mutation_p.P2667S|FAT4_uc003ifi.1_Missense_Mutation_p.P1903S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4426	EGF-like 6.				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						CAGGTGTGTCCCTCCTGGGGA	0.607000														62			45		0	0	0.008740	0	0
EVPL	2125	broad.mit.edu	37	17	74003610	74003610	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:74003610G>A	uc010wss.1	-	21	5970	c.5742C>T	c.(5740-5742)tcC>tcT	p.S1914S	EVPL_uc002jqi.2_Silent_p.S1892S|EVPL_uc010wst.1_Silent_p.S1362S	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1892	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCCTCTGTGTGGAGGTGTTCT	0.652000														71			33		0	0	0.013726	0	0
DNAH2	146754	broad.mit.edu	37	17	7710628	7710628	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:7710628G>A	uc002giu.1	+	60	9617	c.9603G>A	c.(9601-9603)cgG>cgA	p.R3201R	DNAH2_uc010cnm.1_Silent_p.R139R	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3201	Stalk (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)				TGTGGGTGCGGGCCATGGAGG	0.657000														33			43		0	0	0.013114	0	0
abParts	0	broad.mit.edu	37	14	106405782	106405782	+	RNA	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:106405782C>T	uc021ser.1	-	3033		c.50010G>A								Parts of antibodies, mostly variable regions.																		CAAGGCCTCTCGATGGGGACT	0.517000														74			31		0	0	0.010818	0	0
NAA25	80018	broad.mit.edu	37	12	112516049	112516049	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:112516049G>A	uc001ttm.3	-	6	665	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Silent_p.L175L|NAA25_uc009zwa.2_Silent_p.L203L	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	203						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AAACGTTCCAGGATCATATAA	0.303000														62			34		0	0	0.006999	0	0
ZNF202	7753	broad.mit.edu	37	11	123600426	123600426	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:123600426G>A	uc001pzd.1	-	4	910	c.510C>T	c.(508-510)acC>acT	p.T170T	ZNF202_uc001pzc.1_5'UTR|ZNF202_uc001pze.1_Silent_p.T170T|ZNF202_uc001pzf.1_Silent_p.T170T	NM_003455	NP_003446	O95125	ZN202_HUMAN	Homo sapiens zinc finger protein 202 (ZNF202), mRNA.	170					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		ACTGCTCGGGGGTCGAGCTTT	0.597000														10			18		0	0	0.006122	0	0
SCAND3	114821	broad.mit.edu	37	6	28541028	28541028	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:28541028C>T	uc003nlo.3	-	3	3256	c.2638G>A	c.(2638-2640)Gaa>Aaa	p.E880K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	880					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						ttagccagttcctgaatacgt	0.383000														71			38		0	0	0.008740	0	0
GRIN2A	2903	broad.mit.edu	37	16	9923318	9923318	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:9923318C>T	uc010uym.2	-	9	2279	c.1969G>A	c.(1969-1971)Gaa>Aaa	p.E657K	GRIN2A_uc002czo.4_Missense_Mutation_p.E657K|GRIN2A_uc010uyn.2_Missense_Mutation_p.E500K|GRIN2A_uc002czr.4_Missense_Mutation_p.E657K	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	657					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCCACAAATTCCTCTTGGATC	0.502000														44			10		0	0	0.006214	0	0
MYOF	26509	broad.mit.edu	37	10	95076571	95076571	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:95076571C>T	uc001kin.3	-	50	5722	c.5599_splice	c.e50-1	p.E1867_splice	MYOF_uc001kio.3_Splice_Site_p.E1854_splice|MYOF_uc009xue.3_Splice_Site	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1867					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGAAATGCTCCTAAAACAAAA	0.448000														33			11		0	0	0.010729	0	0
SLC24A6	80024	broad.mit.edu	37	12	113758889	113758889	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:113758889G>A	uc001tvc.3	-	3	544	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L	SLC24A6_uc001tvd.1_Silent_p.L112L|SLC24A6_uc001tuz.3_5'Flank|SLC24A6_uc001tva.3_5'Flank|SLC24A6_uc001tvb.3_5'Flank	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	112					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CCCAGAATCAGAAACAGGTAG	0.617000														16			13		0	0	0.013537	0	0
CYP2C19	1557	broad.mit.edu	37	10	96535268	96535268	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:96535268C>T	uc010qnz.2	+	2	453	c.453C>T	c.(451-453)tgC>tgT	p.C151C	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Silent_p.C129C	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	151					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.R150S(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)	AAGCCCGCTGCCTTGTGGAGG	0.507000														77			63		0	0	0.014410	0	0
HECW1	23072	broad.mit.edu	37	7	43484300	43484300	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:43484300G>A	uc003tid.1	+	10	2134	c.1529G>A	c.(1528-1530)gGa>gAa	p.G510E	HECW1_uc011kbi.1_Missense_Mutation_p.G510E	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	510	Glu-rich.				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						gaggaggaggGAGATGTGTCT	0.637000														11			8		0	0	0.003080	0	0
SLX4	84464	broad.mit.edu	37	16	3639678	3639678	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:3639678G>A	uc002cvp.2	-	11	4588	c.3961C>T	c.(3961-3963)Ccg>Tcg	p.P1321S		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1321	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CATGAGGACGGTGTCTGGGGC	0.632000								Direct reversal of damage						117			43		0	0	0.009718	0	0
SFTA3	253970	broad.mit.edu	37	14	36946289	36946289	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:36946289C>T	uc001wtr.3	-	2	780	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	SFTA3_uc001wtq.3_Non-coding_Transcript|SFTA3_uc001wts.3_Non-coding_Transcript	NM_001101341	NP_001094811	P0C7M3	SFTA3_HUMAN	Homo sapiens surfactant associated 3 (SFTA3), mRNA.	50										breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7						ATCCGCTTTTCCCTCTCCCTC	0.522000														48			31		0	0	0.008361	0	0
PKD1L1	168507	broad.mit.edu	37	7	47851488	47851488	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:47851488G>A	uc003tny.2	-	49	7542	c.7508C>T	c.(7507-7509)cCc>cTc	p.P2503L	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_Missense_Mutation_p.P230L	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2503					cell-cell adhesion	integral to membrane		p.V2502I(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CAGGGATGAGGGGACGAGACT	0.592000														18			5		0	0	0.001168	0	0
DNAJC5G	285126	broad.mit.edu	37	2	27503069	27503069	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:27503069G>A	uc002rjl.1	+	5	974	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	TRIM54_uc002rjn.3_5'Flank|TRIM54_uc002rjo.3_5'Flank|DNAJC5G_uc010yli.1_Silent_p.A98A|DNAJC5G_uc002rjm.1_Missense_Mutation_p.E186K	NM_173650	NP_775921	Q8N7S2	DNJ5G_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 gamma (DNAJC5G), mRNA.	186					protein folding	membrane	heat shock protein binding|unfolded protein binding			cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAAATAGCGAAGATGATTT	0.343000											OREG0014517	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		181			37		0	0	0.009718	0	0
SMPD3	55512	broad.mit.edu	37	16	68405116	68405116	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:68405116G>A	uc002ewa.3	-	2	1391	c.969C>T	c.(967-969)ctC>ctT	p.L323L	SMPD3_uc010cfe.3_Silent_p.L323L|SMPD3_uc010vlh.2_Silent_p.L323L	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	323					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CCTTGTACAGGAGCTTGCTGT	0.697000														38			6		0	0	0.001168	0	0
DCTN1	1639	broad.mit.edu	37	2	74590268	74590268	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:74590268G>A	uc002skx.3	-	28	3700	c.3382C>T	c.(3382-3384)Cct>Tct	p.P1128S	SLC4A5_uc002skl.3_Non-coding_Transcript|DCTN1_uc002skt.2_Missense_Mutation_p.P62S|DCTN1_uc002skv.3_Missense_Mutation_p.P994S|DCTN1_uc002sku.3_Missense_Mutation_p.P989S|DCTN1_uc002skw.2_Missense_Mutation_p.P1121S|DCTN1_uc010ffd.3_Missense_Mutation_p.P1103S|DCTN1_uc002sky.3_Missense_Mutation_p.P1086S	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	1128					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						ACATGCAGAGGGGGCAGGGAT	0.532000														35			10		0	0	0.008291	0	0
CFTR	1080	broad.mit.edu	37	7	117230474	117230474	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:117230474G>A	uc003vjd.3	+	12	1879	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	583	ABC transporter 1.				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)	TGTTTTAACAGAAAAAGAAAT	0.284000									Cystic Fibrosis					59			28		0	0	0.013726	0	0
PCDH18	54510	broad.mit.edu	37	4	138449706	138449706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:138449706C>T	uc003ihe.4	-	2	3053	c.2666G>A	c.(2665-2667)cGa>cAa	p.R889Q	PCDH18_uc003ihf.4_Missense_Mutation_p.R881Q|PCDH18_uc011cgz.2_Missense_Mutation_p.R100Q|PCDH18_uc003ihg.4_Missense_Mutation_p.R668Q|PCDH18_uc011cha.2_Missense_Mutation_p.R69Q	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	889					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGGAGAATCTCGCCCCAAATC	0.448000														242			48		0	0	0.014410	0	0
C1QC	714	broad.mit.edu	37	1	22974110	22974110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:22974110C>T	uc001bgc.4	+	2	675	c.572C>T	c.(571-573)aCc>aTc	p.T191I	C1QC_uc001bga.4_Missense_Mutation_p.T191I	NM_172369	NP_758957	P02747	C1QC_HUMAN	Homo sapiens complement component 1, q subcomponent, C chain (C1QC), transcript variant 2, mRNA.	191	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AAAGTGGTCACCTTCTGTGGC	0.587000														55			21		0	0	0.012319	0	0
DNAH5	1767	broad.mit.edu	37	5	13735322	13735322	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:13735322G>A	uc003jfd.2	-	67	11721	c.11679C>T	c.(11677-11679)ttC>ttT	p.F3893F	DNAH5_uc003jfc.2_Silent_p.F61F	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3893					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)					AGGTGAACAGGAATTTGTGCT	0.433000									Kartagener syndrome					39			23		0	0	0.003954	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110468544	110468544	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:110468544G>A	uc003yne.3	+	45	7032	c.6928G>A	c.(6928-6930)Gaa>Aaa	p.E2310K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2310					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)			AAAGGCAGGGGAAAGAATTTT	0.413000										HNSCC(38;0.096)				21			11		0	0	0.008291	0	0
SLC6A19	340024	broad.mit.edu	37	5	1208876	1208876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:1208876C>T	uc003jbw.4	+	1	274	c.218C>T	c.(217-219)cCg>cTg	p.P73L		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	73					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.P73P(1)|p.I72I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTCATGATCCCGTTCCTCATC	0.657000														102			37		0	0	0.009718	0	0
PKD1L2	114780	broad.mit.edu	37	16	81145869	81145869	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:81145869G>A	uc002fgh.1	-	41	6877	c.6877C>T	c.(6877-6879)Ccc>Tcc	p.P2293S	PKD1L2_uc002fgf.1_Missense_Mutation_p.P95S|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	2295					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTCATTTTGGGATTCAACCTG	0.537000														97			28		0	0	0.007291	0	0
PARD3	56288	broad.mit.edu	37	10	34606123	34606123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:34606123C>T	uc010qej.2	-	19	3316	c.2986G>A	c.(2986-2988)Gga>Aga	p.G996R	PARD3_uc010qep.2_Missense_Mutation_p.G906R|PARD3_uc010qeq.2_Missense_Mutation_p.G921R|PARD3_uc010qek.2_Missense_Mutation_p.G993R|PARD3_uc010qel.2_Missense_Mutation_p.G996R|PARD3_uc010qem.2_Missense_Mutation_p.G980R|PARD3_uc010qen.2_Missense_Mutation_p.G950R|PARD3_uc010qeo.2_Missense_Mutation_p.G950R|PARD3_uc001ixo.2_Missense_Mutation_p.G709R|PARD3_uc001ixr.2_Missense_Mutation_p.G993R|PARD3_uc001ixq.2_Missense_Mutation_p.G950R|PARD3_uc001ixp.2_Missense_Mutation_p.G962R|PARD3_uc001ixt.1_Missense_Mutation_p.G814R|PARD3_uc001ixu.2_Missense_Mutation_p.G938R|PARD3_uc001ixs.1_Missense_Mutation_p.G619R	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	996	Lys-rich.			GKEKK -> VELHE (in Ref. 7; BAA91366).	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				ttttcttttccagttttatcc	0.408000														33			10		0	0	0.006214	0	0
OR4A15	81328	broad.mit.edu	37	11	55135551	55135551	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:55135551G>A	uc010rif.2	+	0	192	c.192G>A	c.(190-192)atG>atA	p.M64I		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	64					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						TAATCTACATGGTGACGATAA	0.418000														32			27		0	0	0.004656	0	0
CSMD2	114784	broad.mit.edu	37	1	34118059	34118059	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:34118059G>T	uc001bxm.1	-	27	4627	c.4450C>A	c.(4450-4452)Ccc>Acc	p.P1484T	CSMD2_uc001bxn.1_Missense_Mutation_p.P1444T|CSMD2_uc001bxo.1_Missense_Mutation_p.P357T	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1444	CUB 9.					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)				CCCCCGCAGGGAGCTGAGGAG	0.562000														61			24		5.45024e-15	6.06314e-15	0.003330	1	0
SYT4	6860	broad.mit.edu	37	18	40854289	40854289	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:40854289C>T	uc002law.3	-	1	474	c.105G>A	c.(103-105)tgG>tgA	p.W35*	SYT4_uc010dng.3_Intron|SYT4_uc010xcm.2_Nonsense_Mutation_p.W17*	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	35						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GACAGCAGATCCATGCAAAGA	0.403000														30			13		0	0	0.001855	0	0
NEUROD2	4761	broad.mit.edu	37	17	37762201	37762201	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:37762201C>T	uc002hry.3	-	1	852	c.652G>A	c.(652-654)Gag>Aag	p.E218K	NEUROD2_uc021tws.1_Missense_Mutation_p.E218K	NM_006160	NP_006151	Q15784	NDF2_HUMAN	Homo sapiens neurogenic differentiation 2 (NEUROD2), mRNA.	218					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			GCGCCTTGCTCCGTGAGGAAG	0.682000														24			15		0	0	0.004990	0	0
BPIFA1	51297	broad.mit.edu	37	20	31828038	31828038	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:31828038G>A	uc002wyt.4	+	5	499	c.429_splice	c.e5-1	p.T143_splice	BPIFA1_uc002wyu.4_Splice_Site_p.T143_splice|BPIFA1_uc002wyv.3_Splice_Site_p.T143_splice	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	Homo sapiens BPI fold containing family A, member 1 (BPIFA1), transcript variant 2, mRNA.	143					innate immune response	extracellular region	lipid binding	p.?(1)									CTCCTTTGCAGGCCCCTGGTC	0.527000														156			84		0	0	0.014410	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110465061	110465061	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:110465061C>T	uc003yne.3	+	42	6726	c.6622C>T	c.(6622-6624)Ctg>Ttg	p.L2208L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2208	G8 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.T2207N(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)			GACCATTCTGCTGGATCAAAG	0.398000										HNSCC(38;0.096)				5			4		0	0	0.009096	0	0
BRCA2	675	broad.mit.edu	37	13	32930714	32930715	+	Missense_Mutation	DNP	GG	AA	AA	rs120074200		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:32930714_32930715GG>AA	uc001uub.1	+	14	7812_7813	c.7585_7586GG>AA	c.(7585-7587)ggc>AAc	p.G2529N		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2529	Interaction with FANCD2.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGCAGTAGGAGGCCAAGTTCCC	0.416000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				71			34		0	0	0.004672	0	0
ABCA4	24	broad.mit.edu	37	1	94471033	94471034	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:94471033_94471034GG>TA	uc001dqh.3	-	43	6214_6215	c.6110_6111CC>TA	c.(6109-6111)gcc>gTA	p.A2037V	ABCA4_uc001dqi.1_Missense_Mutation_p.A156V	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	2037	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTCGAAGCCGGGCATAAAGGTA	0.416000														63			22		0	0	0.004672	0	0
DNAH8	1769	broad.mit.edu	37	6	38877410	38877410	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:38877410C>T	uc021yzh.1	+	64	9739	c.9630C>T	c.(9628-9630)ttC>ttT	p.F3210F	DNAH8_uc003ooe.2_Silent_p.F2993F|LOC100131047_uc003oof.2_Intron	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						CCTCCTACTTCCTTTCAGACT	0.448000														53			36		0	0	0.005524	0	0
CASP10	843	broad.mit.edu	37	2	202082315	202082315	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:202082315G>A	uc002uxj.1	+	9	1838	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	CASP10_uc010ftb.2_3'UTR|CASP10_uc010fta.1_Missense_Mutation_p.E407K|CASP10_uc002uxk.1_Missense_Mutation_p.E431K|CASP10_uc002uxl.2_Intron|CASP10_uc002uxm.2_Intron	NM_032977	NP_116759	Q92851	CASPA_HUMAN	Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA.	0					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						TTGCAGACATGAAGACATCTT	0.473000														26			16		0	0	0.004007	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759037	121759037	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:121759037C>T	uc003ksw.1	+	3	811	c.605C>T	c.(604-606)tCc>tTc	p.S202F	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.S202F|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.S249F|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.S202F	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	202					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)		AGCTCATCATCCAACATGGCA	0.463000														73			15		0	0	0.004990	0	0
BAG6	7917	broad.mit.edu	37	6	31612874	31612874	+	Silent	SNP	G	A	A	rs138634242		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:31612874G>A	uc003nvg.4	-	9	1550	c.1236C>T	c.(1234-1236)tcC>tcT	p.S412S	BAG6_uc003nvf.4_Silent_p.S406S|BAG6_uc003nvi.4_Silent_p.S406S|BAG6_uc003nvh.4_Silent_p.S406S|BAG6_uc011dnw.2_Silent_p.S406S|BAG6_uc011dnx.2_Silent_p.S406S	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	412	4 X 29 AA approximate repeats.|Pro-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						ACGGAGCCACGGATGAGGCCT	0.657000														420			256		0	0	0.014410	0	0
OR10J1	26476	broad.mit.edu	37	1	159410507	159410507	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:159410507C>T	uc010piv.2	+	0	996	c.959C>T	c.(958-960)tCc>tTc	p.S320F	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	320					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GGGAAGTTTTCCTGACCATGT	0.493000														49			30		0	0	0.012213	0	0
ATP9B	374868	broad.mit.edu	37	18	76870473	76870473	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:76870473C>T	uc002lmx.3	+	2	426	c.412C>T	c.(412-414)Caa>Taa	p.Q138*	ATP9B_uc002lmv.1_Non-coding_Transcript|ATP9B_uc002lmw.1_Nonsense_Mutation_p.Q138*|ATP9B_uc002lmy.1_Non-coding_Transcript|ATP9B_uc002lmz.1_5'Flank|ATP9B_uc002lmu.3_Nonsense_Mutation_p.Q138*	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	138					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TATAAAAAATCAAAAATACAA	0.383000														18			10		0	0	0.013537	0	0
MUC15	143662	broad.mit.edu	37	11	26582728	26582728	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:26582728C>T	uc001mqw.3	-	4	1243	c.970G>A	c.(970-972)Ggg>Agg	p.G324R	ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Missense_Mutation_p.G297R|MUC15_uc001mqy.3_Missense_Mutation_p.G274R	NM_001135091	NP_663625	Q8N387	MUC15_HUMAN	Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA.	297						extracellular region|integral to membrane|plasma membrane		p.G297R(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						CTAGAATTCCCAAAACTCACA	0.378000														29			9		0	0	0.006214	0	0
UGT2B15	7366	broad.mit.edu	37	4	69536055	69536055	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:69536055G>A	uc021xow.1	-	0	440	c.282C>T	c.(280-282)ctC>ctT	p.L94L		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	94					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TCCATCTATCGAGAATTTTCA	0.289000														129			30		0	0	0.007291	0	0
TRAF6	7189	broad.mit.edu	37	11	36514136	36514136	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:36514136G>A	uc001mwq.2	-	6	1102	c.721C>T	c.(721-723)Cca>Tca	p.P241S	TRAF6_uc001mws.2_Missense_Mutation_p.P241S	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN	Homo sapiens TNF receptor-associated factor 6 (TRAF6), transcript variant 1, mRNA.	241	Interaction with TAX1BP1.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of osteoclast differentiation|protein K63-linked ubiquitination|protein autoubiquitination|response to interleukin-1|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	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein N-terminus binding|protein kinase B binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				AATGTGCATGGAATTGGGGCT	0.323000														99			19		0	0	0.010504	0	0
PRSS41	360226	broad.mit.edu	37	16	2854948	2854948	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:2854948G>A	uc010uwi.2	+	4	772	c.772G>A	c.(772-774)Gat>Aat	p.D258N		NM_001135086	NP_001128558	Q7RTY9	PRS41_HUMAN	Homo sapiens protease, serine, 41 (PRSS41), mRNA.	258	Peptidase S1.				proteolysis	anchored to membrane|plasma membrane	serine-type endopeptidase activity										CTGTGACAAGGATGGACTGTG	0.592000														0			2		0	0	0.004672	0	0
SLC2A9	56606	broad.mit.edu	37	4	9828093	9828093	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:9828093C>T	uc003gmc.3	-	11	1612	c.1551G>A	c.(1549-1551)agG>agA	p.R517R	SLC2A9_uc003gmd.3_Silent_p.R488R	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	517					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						ATGCTTTGTTCCTTTTGGAAA	0.423000														99			50		0	0	0.014410	0	0
SLC22A7	10864	broad.mit.edu	37	6	43270098	43270099	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:43270098_43270099GG>AA	uc021yzt.1	+	7	1321_1322	c.1222_1223GG>AA	c.(1222-1224)ggg>AAg	p.G408K	SLC22A7_uc010jyl.1_Missense_Mutation_p.G409K|SLC22A7_uc003ous.3_Missense_Mutation_p.G406K|SLC22A7_uc003out.3_Missense_Mutation_p.G406K	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	408						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CACGCAAGCTGGGACACTGCTG	0.649000														22			5		0	0	0.004672	0	0
OR52I1	390037	broad.mit.edu	37	11	4615877	4615877	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:4615877T>A	uc010qyi.2	+	0	609	c.609T>A	c.(607-609)agT>agA	p.S203R		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 1 (OR52I1), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCTCTACAGTCTGATTGGTT	0.493000														184			30		0	0	0.004878	0	0
EMB	133418	broad.mit.edu	37	5	49699165	49699165	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:49699165G>A	uc003jom.3	-	5	973	c.724C>T	c.(724-726)Caa>Taa	p.Q242*	EMB_uc010ivq.3_Nonsense_Mutation_p.Q36*|EMB_uc003jol.3_Nonsense_Mutation_p.Q173*|EMB_uc011cpy.2_Nonsense_Mutation_p.Q192*	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	242	Ig-like V-type 2.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TCGCCTAATTGGAATAGTGCA	0.413000														60			16		0	0	0.006122	0	0
GRID2	2895	broad.mit.edu	37	4	94344033	94344033	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:94344033G>A	uc011cdt.2	+	9	1717	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	GRID2_uc011cdu.2_Missense_Mutation_p.E392K	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	487					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.E487Q(2)|p.Y486N(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TTTTAACTACGAAATTTACGT	0.418000														35			26		0	0	0.003330	0	0
RNF145	153830	broad.mit.edu	37	5	158588447	158588447	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:158588447T>A	uc010jiq.2	-	9	1693	c.1543A>T	c.(1543-1545)Atg>Ttg	p.M515L	RNF145_uc011ddy.2_Missense_Mutation_p.M499L|RNF145_uc003lxo.2_Missense_Mutation_p.M513L|RNF145_uc011ddz.2_Missense_Mutation_p.M502L|RNF145_uc003lxp.3_Missense_Mutation_p.M485L|RNF145_uc021ygv.1_5'Flank	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	485						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTGAGCCCATCACTGTCCAT	0.512000														43			19		0	0	0.007413	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153909170	153909170	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:153909170C>T	uc021xgc.1	+	7	2017	c.1733C>T	c.(1732-1734)cCc>cTc	p.P578L	ARHGEF26_uc011bog.1_Missense_Mutation_p.P578L|ARHGEF26_uc011boh.1_Missense_Mutation_p.P578L	NM_001251962	NP_001238891	Q96DR7	ARHGQ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 26 (ARHGEF26), transcript variant 1, mRNA.	578	DH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						CTCATTCTCCCCATGCAGAGG	0.463000														25			12		0	0	0.013537	0	0
ITK	3702	broad.mit.edu	37	5	156641321	156641321	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:156641321A>G	uc003lwo.1	+	3	527	c.445A>G	c.(445-447)Acc>Gcc	p.T149A		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	149					T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATATGATCCAACCAAGAATGG	0.423000			T	SYK	peripheral T-cell lymphoma									226			77		0	0	0.014410	0	0
DSP	1832	broad.mit.edu	37	6	7558481	7558481	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:7558481G>A	uc003mxp.1	+	2	685	c.406G>A	c.(406-408)Gat>Aat	p.D136N	DSP_uc003mxq.1_Missense_Mutation_p.D136N|DSP_uc021yle.1_Missense_Mutation_p.D136N	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	136	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				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)		CCAGCCCTGTGATGCTTACCA	0.502000														21			10		0	0	0.006214	0	0
ELMO1	9844	broad.mit.edu	37	7	37355536	37355536	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:37355536T>A	uc022abv.1	-	2	817	c.107A>T	c.(106-108)gAa>gTa	p.E36V	ELMO1_uc003tfk.2_Missense_Mutation_p.E36V|ELMO1_uc010kxg.2_Missense_Mutation_p.E36V	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	36					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ATCACAGACTTCCTTTATTAT	0.279000														244			39		0	0	0.011902	0	0
ERV3-1	2086	broad.mit.edu	37	7	64453116	64453116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:64453116C>T	uc011kdr.2	-	1	883	c.289G>A	c.(289-291)Ggg>Agg	p.G97R	ZNF117_uc003ttr.2_5'Flank|ERV3-1_uc022afc.1_Missense_Mutation_p.G97R	NM_001007253	NP_001007254	Q14264	ENR1_HUMAN	Homo sapiens endogenous retrovirus group 3, member 1 (ERV3-1), mRNA.	97						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						tcctttgacccgacatgaatt	0.473000														28			14		0	0	0.002450	0	0
SALL3	27164	broad.mit.edu	37	18	76752328	76752328	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:76752328G>A	uc002lmt.3	+	1	337	c.337G>A	c.(337-339)Gag>Aag	p.E113K	SALL3_uc010dra.3_5'Flank	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGAGGCGGCCGAGGAGGCGGG	0.791000														1			4		0	0	0.000602	0	0
IL36B	27177	broad.mit.edu	37	2	113780347	113780347	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:113780347C>T	uc002tiq.1	-	5	503	c.399G>A	c.(397-399)aaG>aaA	p.K133K		NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA.	133					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						TCTTCCACTTCTTTCTACCTG	0.433000														41			23		0	0	0.002780	0	0
DMBT1	1755	broad.mit.edu	37	10	124351993	124351993	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:124351993C>T	uc001lgk.1	+	19	2488	c.2382C>T	c.(2380-2382)ccC>ccT	p.P794P	DMBT1_uc001lgl.1_Silent_p.P784P|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Silent_p.P794P|DMBT1_uc021qag.1_Silent_p.P784P|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Silent_p.P794P|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Silent_p.P407P	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	794	SRCR 6.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCTCAGGACCCATTGTTCTGG	0.607000														98			77		0	0	0.014410	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578576	44578576	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:44578576G>A	uc003tlb.3	-	1	1476	c.1420C>T	c.(1420-1422)Ccc>Tcc	p.P474S	NPC1L1_uc011kbw.2_Missense_Mutation_p.P474S|NPC1L1_uc003tlc.3_Missense_Mutation_p.P474S|NPC1L1_uc003tld.3_Missense_Mutation_p.P474S	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	474					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.A473T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGATTGAGGGGGGCGTAGCAG	0.597000														29			14		0	0	0.002450	0	0
R3HDM2	22864	broad.mit.edu	37	12	57660556	57660556	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:57660556G>A	uc009zpm.1	-	16	2082	c.2047C>T	c.(2047-2049)Ccc>Tcc	p.P683S	R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_Missense_Mutation_p.P378S|R3HDM2_uc001snr.2_Missense_Mutation_p.P410S|R3HDM2_uc001sns.2_Missense_Mutation_p.P683S|R3HDM2_uc001snt.2_Missense_Mutation_p.P697S	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	683	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CAGGGAGAGGGAGACTGAGGC	0.547000														27			9		0	0	0.004482	0	0
PAK3	5063	broad.mit.edu	37	X	110390987	110390987	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:110390987G>A	uc010npv.1	+	4	434	c.407G>A	c.(406-408)cGa>cAa	p.R136Q	PAK3_uc010npt.1_Missense_Mutation_p.R100Q|PAK3_uc010npu.1_Missense_Mutation_p.R100Q|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Missense_Mutation_p.R100Q|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Missense_Mutation_p.R121Q|PAK3_uc004epa.2_Missense_Mutation_p.R115Q	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	115	Autoregulatory region (By similarity).|Linker.			VLDV -> CSRC (in Ref. 2).	multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity			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						CAATGGGCACGATTACTCCAA	0.398000										TSP Lung(19;0.15)				14			40		0	0	0.009718	0	0
MAST4	375449	broad.mit.edu	37	5	66437978	66437978	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:66437978C>T	uc021xzk.1	+	19	2838	c.2530C>T	c.(2530-2532)Cgt>Tgt	p.R844C	MAST4_uc003jut.2_Missense_Mutation_p.R655C|MAST4_uc003juu.1_Missense_Mutation_p.R665C|MAST4_uc011cra.1_Missense_Mutation_p.R638C|MAST4_uc003juv.2_Missense_Mutation_p.R650C|MAST4_uc003juw.3_Missense_Mutation_p.R650C	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	847	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCGATTCTTCCGTTCTTTAGA	0.428000														98			53		0	0	0.014410	0	0
MACF1	23499	broad.mit.edu	37	1	39802074	39802074	+	Missense_Mutation	SNP	C	T	T	rs3116394		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:39802074C>T	uc021olw.1	+	0	5134	c.5134C>T	c.(5134-5136)Cca>Tca	p.P1712S	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.	3277					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)			ATCCTTTCTTCCAGAGAAACT	0.428000														54			37		0	0	0.005524	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603167	138603167	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:138603167G>A	uc011kql.2	-	1	1254	c.1205C>T	c.(1204-1206)cCt>cTt	p.P402L	KIAA1549_uc011kqj.2_Missense_Mutation_p.P402L	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	402						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTTGTCCACAGGACCGGGGAG	0.542000			O	BRAF	pilocytic astrocytoma									102			14		0	0	0.001855	0	0
FAM190B	54462	broad.mit.edu	37	10	86131045	86131045	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:86131045C>T	uc010qmd.1	+	1	431	c.237C>T	c.(235-237)gtC>gtT	p.V79V	FAM190B_uc001kdg.1_Silent_p.V79V|FAM190B_uc001kdh.1_Silent_p.V79V			Q9H7U1	F190B_HUMAN	Homo sapiens family with sequence similarity 190, member B (FAM190B), mRNA.	79										NS(2)|endometrium(2)|kidney(4)|large_intestine(11)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						CACAAGGTGTCGAAGAGCCTA	0.333000														23			10		0	0	0.006214	0	0
BLNK	29760	broad.mit.edu	37	10	97983604	97983604	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:97983604G>A	uc001kls.4	-	5	681	c.503C>T	c.(502-504)cCc>cTc	p.P168L	BLNK_uc001kme.4_Missense_Mutation_p.P86L|BLNK_uc001klt.4_Missense_Mutation_p.P82L|BLNK_uc009xvc.3_Intron|BLNK_uc001klu.4_Missense_Mutation_p.P86L|BLNK_uc001klv.4_Intron|BLNK_uc001klw.4_Non-coding_Transcript|BLNK_uc001klx.4_Missense_Mutation_p.P168L|BLNK_uc001kly.4_Missense_Mutation_p.P168L|BLNK_uc001klz.4_Intron|BLNK_uc001kma.4_Missense_Mutation_p.P168L|BLNK_uc001kmb.4_Intron|BLNK_uc001kmc.4_Non-coding_Transcript|BLNK_uc001kmd.4_Missense_Mutation_p.P86L|BLNK_uc009xvd.3_Intron	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	168	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GAGGCCTTTGGGTTTGGGTGG	0.592000														83			17		0	0	0.006122	0	0
DGKB	1607	broad.mit.edu	37	7	14613939	14613939	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:14613939G>A	uc003ssz.3	-	18	1858	c.1671C>T	c.(1669-1671)atC>atT	p.I557I	DGKB_uc011jxt.2_Silent_p.I538I|DGKB_uc003sta.3_Silent_p.I557I|DGKB_uc011jxu.2_Silent_p.I556I	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	557	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TGTCCAACATGATTTCTGTGC	0.368000														113			54		0	0	0.014410	0	0
HIVEP3	59269	broad.mit.edu	37	1	42046567	42046567	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:42046567G>A	uc001cgz.4	-	3	5115	c.3902C>T	c.(3901-3903)tCa>tTa	p.S1301L	HIVEP3_uc001cha.4_Missense_Mutation_p.S1301L|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.	1301					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)				TGGAGGAGCTGATGTAGGTGC	0.617000														45			28		0	0	0.007291	0	0
ZNF215	7762	broad.mit.edu	37	11	6977310	6977310	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:6977310C>T	uc001mey.3	+	6	1690	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*	ZNF215_uc010raw.2_3'UTR|ZNF215_uc010rax.2_Nonsense_Mutation_p.R130*|ZNF215_uc001mez.1_Intron	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	368					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R368*(2)|p.R368G(2)		NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TACAGATATTCGACACCAAAA	0.333000														48			12		0	0	0.010729	0	0
ZNF668	79759	broad.mit.edu	37	16	31075148	31075148	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:31075148G>A	uc021tgt.1	-	2	1058	c.702C>T	c.(700-702)ctC>ctT	p.L234L	ZNF668_uc010cag.2_Silent_p.L211L|ZNF668_uc010caf.3_Silent_p.L211L|ZNF668_uc002eao.3_Silent_p.L211L	NM_001172669	NP_078982	Q96K58	ZN668_HUMAN	Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA.	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CATGGTTGCGGAGGTCCTTGA	0.662000														8			5		0	0	0.000602	0	0
SPEG	10290	broad.mit.edu	37	2	220334094	220334094	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:220334094G>A	uc010fwg.3	+	12	3708	c.3708G>A	c.(3706-3708)atG>atA	p.M1236I		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1236	Ig-like 6.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ACCGGCGCATGACACAGTGTA	0.642000														16			5		0	0	0.000602	0	0
KDM3B	51780	broad.mit.edu	37	5	137761259	137761259	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:137761259G>A	uc003lcy.1	+	16	4599	c.4399G>A	c.(4399-4401)Gag>Aag	p.E1467K	KDM3B_uc010jew.1_Missense_Mutation_p.E1123K|KDM3B_uc011cys.1_Missense_Mutation_p.E499K	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	1467					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.F1466F(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GGATGGTTTCGAGATCATATG	0.408000														59			9		0	0	0.006214	0	0
MAN2A2	4122	broad.mit.edu	37	15	91461493	91461493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:91461493C>T	uc010bnz.2	+	20	3179	c.3064C>T	c.(3064-3066)Ccg>Tcg	p.P1022S	MAN2A2_uc002bqc.3_Missense_Mutation_p.P1022S|MAN2A2_uc010uql.2_Missense_Mutation_p.P684S|MAN2A2_uc010uqm.2_Missense_Mutation_p.P601S|MAN2A2_uc010uqn.1_Non-coding_Transcript	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	1022					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.A1021T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCTGAACGCCCCGGCGCTCGC	0.592000														459			221		0	0	0.014410	0	0
HPX	3263	broad.mit.edu	37	11	6462171	6462171	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:6462171G>A	uc001mdg.2	-	0	84	c.23C>T	c.(22-24)cCc>cTc	p.P8L	HPX_uc009yfc.2_Non-coding_Transcript|HPX_uc010rai.1_Missense_Mutation_p.P8L	NM_000613	NP_000604	P02790	HEMO_HUMAN	Homo sapiens hemopexin (HPX), mRNA.	8					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CAGTGCAACGGGTGCTCCCAG	0.577000														14			4		0	0	0.000602	0	0
CUL2	8453	broad.mit.edu	37	10	35324198	35324198	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:35324198G>A	uc010qer.2	-	9	1065	c.961C>T	c.(961-963)Cgt>Tgt	p.R321C	CUL2_uc021ppa.1_Missense_Mutation_p.R315C|CUL2_uc009xma.3_Missense_Mutation_p.R171C|CUL2_uc001ixv.3_Missense_Mutation_p.R302C|CUL2_uc001ixw.3_Missense_Mutation_p.R302C|CUL2_uc010qes.2_Missense_Mutation_p.R239C	NM_001198778	NP_001185707	Q13617	CUL2_HUMAN	Homo sapiens cullin 2 (CUL2), transcript variant 1, mRNA.	302					G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						GACACAGCACGGAGTAAGACG	0.428000														18			8		0	0	0.006214	0	0
ASPM	259266	broad.mit.edu	37	1	197072889	197072889	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:197072889A>T	uc001gtu.3	-	17	5749	c.5492T>A	c.(5491-5493)aTt>aAt	p.I1831N	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1831	IQ 9.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGCAGACTGAATTTTAAGAGC	0.363000														77			33		0	0	0.003271	0	0
HSPG2	3339	broad.mit.edu	37	1	22159032	22159032	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:22159032G>A	uc009vqd.3	-	80	11206	c.11166C>T	c.(11164-11166)ccC>ccT	p.P3722P	HSPG2_uc001bfi.3_5'Flank|HSPG2_uc001bfj.3_Silent_p.P3721P	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3721	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGATGAAGTCGGGCTGCCGGT	0.662000														68			27		0	0	0.010818	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290826	141290826	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:141290826C>T	uc022cfj.1	-	0	948	c.948G>A	c.(946-948)gaG>gaA	p.E316E	MAGEC2_uc004fbu.2_Silent_p.E316E	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	316	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCTAAAAACTCTAGTACTT	0.463000										HNSCC(46;0.14)				21			42		0	0	0.006230	0	0
WDHD1	11169	broad.mit.edu	37	14	55455904	55455904	+	Silent	SNP	G	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:55455904G>T	uc001xbm.2	-	12	1458	c.1368C>A	c.(1366-1368)cgC>cgA	p.R456R	WDHD1_uc010aom.2_Intron|WDHD1_uc001xbn.2_Silent_p.R333R	NM_007086	NP_009017	O75717	WDHD1_HUMAN	Homo sapiens WD repeat and HMG-box DNA binding protein 1 (WDHD1), transcript variant 1, mRNA.	456						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CATTATAGCAGCGAATAATTC	0.368000														32			7		2.0095e-06	2.21625e-06	0.001984	1	0
OR1J2	26740	broad.mit.edu	37	9	125273983	125273983	+	Silent	SNP	T	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:125273983T>G	uc011lyv.2	+	0	903	c.903T>G	c.(901-903)ctT>ctG	p.L301L	OR1J2_uc004bmj.2_Silent_p.L301L	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						AAGAGGCCCTTGGGAAACTCT	0.398000														25			32		0	0	0.012213	0	0
DCHS1	8642	broad.mit.edu	37	11	6655412	6655412	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:6655412G>A	uc001mem.1	-	2	2324	c.1923C>T	c.(1921-1923)acC>acT	p.T641T		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	641	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGGGTCCGGGTTGTGCACA	0.592000														69			35		0	0	0.003271	0	0
TM9SF3	56889	broad.mit.edu	37	10	98325103	98325103	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:98325103G>A	uc001kmm.4	-	2	596	c.379C>T	c.(379-381)Cat>Tat	p.H127Y		NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	Homo sapiens transmembrane 9 superfamily member 3 (TM9SF3), mRNA.	127						integral to membrane	binding	p.N126fs*9(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TACCAGTAATGATTTTTTATG	0.299000														133			38		0	0	0.004878	0	0
MUC16	94025	broad.mit.edu	37	19	9071105	9071105	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9071105C>T	uc002mkp.3	-	2	16545	c.16341G>A	c.(16339-16341)tcG>tcA	p.S5447S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5449	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						GTGTGGCTTTCGATGTCTCTG	0.493000														133			88		0	0	0.014410	0	0
UTS2D	257313	broad.mit.edu	37	3	190986220	190986220	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:190986220C>T	uc003fsu.3	-	8	1132	c.345G>A	c.(343-345)tgG>tgA	p.W115*		NM_198152	NP_937795	Q765I0	UTS2B_HUMAN	Homo sapiens urotensin 2 domain containing (UTS2D), mRNA.	115						extracellular region	hormone activity			lung(5)|skin(1)|stomach(2)	8	all_cancers(143;1.77e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000214)		CACAGTATTTCCAAAAGCAAG	0.323000														13			3		0	0	0.009096	0	0
EHD1	10938	broad.mit.edu	37	11	64622204	64622204	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:64622204G>A	uc010rnq.1	-	5	1295	c.1248C>T	c.(1246-1248)tcC>tcT	p.S416S	EHD1_uc021qkz.1_Silent_p.S85S|EHD1_uc001obu.1_Silent_p.S402S|EHD1_uc001obv.1_Silent_p.S402S	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	Homo sapiens EH-domain containing 1 (EHD1), mRNA.	402					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						AAGGCATCAGGGACTCCTCCT	0.672000														136			16		0	0	0.004007	0	0
COL3A1	1281	broad.mit.edu	37	2	189849944	189849944	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:189849944C>T	uc002uqj.1	+	2	421	c.304C>T	c.(304-306)Caa>Taa	p.Q102*		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	102					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)	TCCTAATGGTCAAGGACCTCA	0.348000														30			23		0	0	0.012213	0	0
CARS	833	broad.mit.edu	37	11	3062193	3062193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:3062193C>T	uc001lxf.3	-	3	472	c.388G>A	c.(388-390)Ggg>Agg	p.G130R	CARS_uc010qxo.2_Missense_Mutation_p.G130R|CARS_uc001lxe.3_Missense_Mutation_p.G37R|CARS_uc001lxg.3_Missense_Mutation_p.G47R|CARS_uc001lxh.3_Missense_Mutation_p.G47R|CARS_uc010qxp.2_Missense_Mutation_p.G60R|AX747870_uc001lxi.1_Non-coding_Transcript	NM_001014437	NP_001014437	P49589	SYCC_HUMAN	Homo sapiens cysteinyl-tRNA synthetase (CARS), transcript variant 3, mRNA.	47					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	ACCTTTTTCCCATCTTGAGGT	0.493000			T	ALK	ALCL									58			19		0	0	0.007413	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671435	112671435	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:112671435C>T	uc003pvx.1	+	2	837	c.525C>T	c.(523-525)ttC>ttT	p.F175F	RFPL4B_uc021zdy.1_Silent_p.F175F	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	Homo sapiens ret finger protein-like 4B (RFPL4B), mRNA.	175	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		ATGATTTATTCCCTGAGCATG	0.557000														55			48		0	0	0.014410	0	0
SLC6A17	388662	broad.mit.edu	37	1	110734611	110734611	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:110734611C>T	uc009wfq.3	+	6	1343	c.882C>T	c.(880-882)gaC>gaT	p.D294D	SLC6A17_uc001dze.1_5'Flank	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	294					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		AGATGCTGGACCCCCAGGTGT	0.547000														20			36		0	0	0.007835	0	0
OR4C12	283093	broad.mit.edu	37	11	50003782	50003782	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:50003782C>T	uc010ria.2	-	0	290	c.256G>A	c.(256-258)Gag>Aag	p.E86K		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						ATTTTCTTCTCTTGAAAGGAA	0.433000														64			40		0	0	0.010771	0	0
POLA2	23649	broad.mit.edu	37	11	65049962	65049962	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:65049962C>T	uc001odj.3	+	9	1308	c.976C>T	c.(976-978)Cca>Tca	p.P326S	POLA2_uc010rod.1_Missense_Mutation_p.P118S|POLA2_uc001odk.3_Missense_Mutation_p.P23S	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	Homo sapiens polymerase (DNA directed), alpha 2 (70kD subunit) (POLA2), mRNA.	326					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	TGTGCCACTTCCATTTTATCA	0.502000														65			26		0	0	0.008361	0	0
ITGA1	3672	broad.mit.edu	37	5	52221113	52221113	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:52221113C>T	uc003jou.3	+	18	2823	c.2409C>T	c.(2407-2409)ccC>ccT	p.P803P	ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Silent_p.P334P	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	803					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTCAGATTCCCTTTGCCAAAG	0.393000														37			10		0	0	0.006214	0	0
MYOCD	93649	broad.mit.edu	37	17	12666536	12666537	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:12666536_12666537CC>TT	uc002gno.2	+	13	2835_2836	c.2536_2537CC>TT	c.(2536-2538)ccc>TTc	p.P846F	MYOCD_uc002gnn.2_Missense_Mutation_p.P798F|MYOCD_uc002gnq.2_Missense_Mutation_p.P522F	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	798					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCCCTTTGATCCCTATGCCACC	0.500000														38			36		0	0	0.004672	0	0
SLC7A2	6542	broad.mit.edu	37	8	17400855	17400855	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:17400855C>T	uc011kye.2	+	1	175	c.127C>T	c.(127-129)Cct>Tct	p.P43S	SLC7A2_uc011kyc.2_Missense_Mutation_p.P3S|SLC7A2_uc011kyd.2_Missense_Mutation_p.P43S	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	3					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CAGAATGATTCCTTGCAGAGC	0.522000														34			27		0	0	0.005443	0	0
NR1D1	9572	broad.mit.edu	37	17	38253337	38253337	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:38253337C>T	uc002htz.2	-	1	977	c.351G>A	c.(349-351)aaG>aaA	p.K117K	NR1D1_uc010cwq.2_Non-coding_Transcript|NR1D1_uc010cwr.1_5'Flank	NM_021724	NP_068370	P20393	NR1D1_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 1 (NR1D1), mRNA.	117					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					TGCTGGTGCTCTTGCTGGGGG	0.572000														70			28		0	0	0.010818	0	0
COL4A4	1286	broad.mit.edu	37	2	227917128	227917128	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:227917128C>T	uc021vxr.1	-	31	2962	c.2861_splice	c.e31-1	p.G954_splice	COL4A4_uc021vxs.1_Splice_Site_p.G954_splice	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	954	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)		TCCTATGGCTCCTATGGATAT	0.423000														33			23		0	0	0.002780	0	0
ZNF37BP	100129482	broad.mit.edu	37	10	43016349	43016349	+	RNA	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:43016349G>A	uc001jab.4	-	4		c.2851C>T			ZNF37BP_uc001jac.4_Non-coding_Transcript|ZNF37BP_uc001jaa.4_Non-coding_Transcript					Homo sapiens zinc finger protein 37B, pseudogene (ZNF37BP), non-coding RNA.																		GAATTCTCAGGGAAAGCTTTC	0.373000														19			20		0	0	0.008871	0	0
ZW10	9183	broad.mit.edu	37	11	113631062	113631062	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:113631062G>A	uc001poe.3	-	4	546	c.449C>T	c.(448-450)tCc>tTc	p.S150F	ZW10_uc009yyv.3_Non-coding_Transcript	NM_004724	NP_004715	O43264	ZW10_HUMAN	Homo sapiens ZW10, kinetochore associated, homolog (Drosophila) (ZW10), mRNA.	150	Interaction with RINT1.				ER to Golgi vesicle-mediated transport|cell division|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		GCATTTTCTGGATTTTAATAA	0.353000														21			32		0	0	0.013726	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537589	5537589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:5537589G>A	uc001maz.4	-	0	368	c.83C>T	c.(82-84)tCa>tTa	p.S28L	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	28										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AGTGGCACTTGAAGAGATATT	0.498000														65			35		0	0	0.008740	0	0
ZNF226	7769	broad.mit.edu	37	19	44680638	44680638	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:44680638C>T	uc002oys.3	+	5	1403	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	ZNF226_uc002oyp.3_Missense_Mutation_p.S408F|ZNF226_uc002oyq.3_Missense_Mutation_p.S291F|ZNF226_uc002oyr.3_Missense_Mutation_p.S291F|ZNF226_uc002oyt.3_Missense_Mutation_p.S408F	NM_001032372	NP_001027545	Q9NYT6	ZN226_HUMAN	Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA.	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				CATCTTCAATCCCATCAAAGA	0.443000														36			11		0	0	0.010729	0	0
CCDC94	55702	broad.mit.edu	37	19	4254406	4254406	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:4254406C>T	uc002lzv.4	+	3	358	c.325C>T	c.(325-327)Cag>Tag	p.Q109*		NM_018074	NP_060544	Q9BW85	CCD94_HUMAN	Homo sapiens coiled-coil domain containing 94 (CCDC94), mRNA.	109										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		GCGGAATTTCCAGGCTGAGAA	0.577000														36			22		0	0	0.002780	0	0
PAGE5	90737	broad.mit.edu	37	X	55249139	55249139	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:55249139G>A	uc004duj.3	+	3	578	c.336G>A	c.(334-336)ggG>ggA	p.G112G	PAGE5_uc004duk.3_Silent_p.G92G	NM_130467	NP_001013453	Q96GU1	GGEE1_HUMAN	Homo sapiens P antigen family, member 5 (prostate associated) (PAGE5), transcript variant 1, mRNA.	112										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						TCAGGGAGGGGACTCTGCCCA	0.408000														14			67		0	0	0.014410	0	0
ABCC4	10257	broad.mit.edu	37	13	95813565	95813565	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:95813565A>G	uc001vmd.4	-	18	2452	c.2333T>C	c.(2332-2334)tTt>tCt	p.F778S	ABCC4_uc010afk.3_Missense_Mutation_p.F731S|ABCC4_uc001vme.2_Missense_Mutation_p.F778S|ABCC4_uc010tih.1_Missense_Mutation_p.F703S	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	778	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGCTATGCCAAAAAGAACGGT	0.363000														38			15		0	0	0.007413	0	0
TTN	7273	broad.mit.edu	37	2	179629520	179629520	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179629520A>G	uc021vsy.1	-	41	9947	c.9722T>C	c.(9721-9723)gTt>gCt	p.V3241A	TTN_uc021vsz.1_Missense_Mutation_p.V3195A|TTN_uc021vta.1_Missense_Mutation_p.V3195A|TTN_uc021vtb.1_Missense_Mutation_p.V3195A|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Missense_Mutation_p.V3241A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3241	Ig-like 19.						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)			CTCCTGCAGAACTTGGGGCGG	0.483000														51			43		0	0	0.013114	0	0
KIF21B	23046	broad.mit.edu	37	1	200969865	200969865	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:200969865G>A	uc001gvs.2	-	9	1763	c.1446C>T	c.(1444-1446)atC>atT	p.I482I	KIF21B_uc009wzl.2_Silent_p.I482I|KIF21B_uc001gvr.2_Silent_p.I482I|KIF21B_uc010ppn.2_Silent_p.I482I	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	482					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CGATCTCCCGGATGTAGTTCT	0.632000														44			23		0	0	0.002780	0	0
NLRP11	204801	broad.mit.edu	37	19	56321348	56321348	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:56321348C>T	uc010ygf.2	-	4	1339	c.628G>A	c.(628-630)Ggc>Agc	p.G210S	NLRP11_uc002qlz.3_Missense_Mutation_p.G111S|NLRP11_uc002qmb.3_Missense_Mutation_p.G111S|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.	210	NACHT.						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)		GGAGCCTGGCCGTCAGGCCAG	0.488000														42			22		0	0	0.002780	0	0
SIRPG	55423	broad.mit.edu	37	20	1638336	1638336	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:1638336G>A	uc002wfm.1	-	0	90	c.25C>T	c.(25-27)Cat>Tat	p.H9Y	SIRPG_uc002wfn.1_Missense_Mutation_p.H9Y|SIRPG_uc002wfo.1_Missense_Mutation_p.H9Y	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	9					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CCAGGAGGATGGGGCCAGGAG	0.557000														49			21		0	0	0.002780	0	0
PEG3	5178	broad.mit.edu	37	19	57286126	57286126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:57286126C>T	uc002qnr.2	-	10	1896	c.1514G>A	c.(1513-1515)cGa>cAa	p.R505Q	BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_Missense_Mutation_p.R301Q|PEG3_uc010ygq.1_Missense_Mutation_p.R301Q|PEG3_uc010etp.2_Missense_Mutation_p.R505Q|PEG3_uc010ygs.1_Missense_Mutation_p.R505Q|PEG3_uc002qnq.2_Missense_Mutation_p.R505Q	NM_015363	NP_056178	Q9GZU2	PEG3_HUMAN	Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA.	638					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R504H(1)		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)		GTATGAGGGTCGGCCGAAACA	0.438000														44			20		0	0	0.008871	0	0
C11orf53	341032	broad.mit.edu	37	11	111156661	111156661	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:111156661T>A	uc001plc.3	+	3	740	c.593T>A	c.(592-594)gTg>gAg	p.V198E		NM_198498	NP_940900	Q8IXP5	CK053_HUMAN	Homo sapiens chromosome 11 open reading frame 53 (C11orf53), mRNA.	198										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		CCGCCCAAGGTGGGGCCACTC	0.577000														21			50		0	0	0.014410	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45567772	45567772	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:45567772G>A	uc001rom.2	-	2	914	c.377C>T	c.(376-378)tCc>tTc	p.S126F						Homo sapiens pleckstrin homology domain containing, family A member 8 pseudogene 1 (PLEKHA8P1), non-coding RNA.											breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAAATATAAGGAATTCTTATT	0.328000														30			19		0	0	0.006122	0	0
CASQ2	845	broad.mit.edu	37	1	116311134	116311134	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:116311134C>T	uc001efx.4	-	0	293	c.29G>A	c.(28-30)gGg>gAg	p.G10E	CASQ2_uc010owu.2_Missense_Mutation_p.G10E	NM_001232	NP_001223	O14958	CASQ2_HUMAN	Homo sapiens calsequestrin 2 (cardiac muscle) (CASQ2), nuclear gene encoding mitochondrial protein, mRNA.	10					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AAAATAAATCCCCACAATAAA	0.438000														25			15		0	0	0.004007	0	0
DSC1	1823	broad.mit.edu	37	18	28711619	28711619	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:28711619C>T	uc002kwn.3	-	14	2687	c.2425G>A	c.(2425-2427)Gga>Aga	p.G809R	DSC1_uc002kwm.3_Missense_Mutation_p.G809R|BC042382_uc002kwo.1_Non-coding_Transcript	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	809					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCAGTATCTCCCTGCCCCACT	0.498000														96			31		0	0	0.008361	0	0
LUM	4060	broad.mit.edu	37	12	91502721	91502721	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:91502721C>T	uc001tbm.3	-	1	425	c.36G>A	c.(34-36)ttG>ttA	p.L12L		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	12					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.A11T(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TACCACCAATCAATGCCAGGA	0.343000														22			10		0	0	0.008291	0	0
SLC14A2	8170	broad.mit.edu	37	18	43221253	43221253	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:43221253C>G	uc002lbe.3	+	7	1887	c.1071C>G	c.(1069-1071)atC>atG	p.I357M	SLC14A2_uc002lbb.3_Missense_Mutation_p.I357M|SLC14A2_uc010dnj.3_Missense_Mutation_p.I357M	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	357						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCATCGCCATCGGAGGCATGT	0.552000														35			8		0	0	0.008291	0	0
CLPTM1	1209	broad.mit.edu	37	19	45490560	45490560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:45490560C>T	uc002pai.3	+	7	971	c.917C>T	c.(916-918)tCc>tTc	p.S306F	CLPTM1_uc010ejv.1_Missense_Mutation_p.S204F|CLPTM1_uc010xxf.2_Missense_Mutation_p.S204F|CLPTM1_uc010xxg.2_Missense_Mutation_p.S292F	NM_001294	NP_001285	O96005	CLPT1_HUMAN	Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.	306					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CTCCGCGTCTCCTTCTGCCCA	0.567000														335			69		0	0	0.014410	0	0
PTPRS	5802	broad.mit.edu	37	19	5220054	5220054	+	Missense_Mutation	SNP	G	A	A	rs114904537	by1000genomes	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:5220054G>A	uc002mbv.3	-	21	3895	c.3661C>T	c.(3661-3663)Cat>Tat	p.H1221Y	PTPRS_uc002mbu.1_Missense_Mutation_p.H790Y|PTPRS_uc010xin.2_Missense_Mutation_p.H790Y|PTPRS_uc002mbw.3_Missense_Mutation_p.H1199Y|PTPRS_uc002mbx.3_Missense_Mutation_p.H794Y|PTPRS_uc002mby.3_Missense_Mutation_p.H790Y	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1221					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TCGCCGGGATGGAACGTGGGT	0.642000														46			28		0	0	0.003755	0	0
PCDHB9	56127	broad.mit.edu	37	5	140568927	140568928	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140568927_140568928CC>TA	uc003liw.1	+	1	2033_2034	c.2033_2034CC>TA	c.(2032-2034)gcc>gTA	p.A678V		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	679					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGCCCCGGCCCAGGCCCAGG	0.703000														101			29		0	0	0.004672	0	0
ALPI	248	broad.mit.edu	37	2	233320917	233320917	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:233320917G>A	uc002vst.4	+	0	85	c.8G>A	c.(7-9)gGg>gAg	p.G3E	ALPI_uc002vsu.4_5'UTR	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	3					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GACATGCAGGGGCCCTGGGTG	0.652000														13			15		0	0	0.003163	0	0
SPRYD4	283377	broad.mit.edu	37	12	56862919	56862919	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:56862919C>T	uc001sli.4	+	1	257	c.182C>T	c.(181-183)cCc>cTc	p.P61L	SPRYD4_uc010sqo.1_Missense_Mutation_p.P61L	NM_207344	NP_997227	Q8WW59	SPRY4_HUMAN	Homo sapiens SPRY domain containing 4 (SPRYD4), mRNA.	61	B30.2/SPRY.					nucleus				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						GGATTGGAGCCCACCAAGGTG	0.562000														68			36		0	0	0.004289	0	0
CACNG3	10368	broad.mit.edu	37	16	24372902	24372902	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:24372902C>T	uc002dmf.3	+	3	1868	c.666C>T	c.(664-666)gcC>gcT	p.A222A		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	222					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CTACTTTTGCCCGCCTCCCAC	0.527000														46			12		0	0	0.013537	0	0
PRKCQ	5588	broad.mit.edu	37	10	6472779	6472779	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:6472779G>A	uc001iji.1	-	15	2141	c.2057C>T	c.(2056-2058)cCg>cTg	p.P686L	PRKCQ_uc001ijj.2_Missense_Mutation_p.P653L|PRKCQ_uc009xim.2_Missense_Mutation_p.P590L|PRKCQ_uc009xin.2_Missense_Mutation_p.P617L|PRKCQ_uc010qax.2_Missense_Mutation_p.P528L	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	653	AGC-kinase C-terminal.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TACCACTTTCGGCCGGAACGG	0.617000														46			36		0	0	0.005524	0	0
ZNF238	10472	broad.mit.edu	37	1	244218220	244218220	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:244218220C>T	uc001iad.4	+	1	1317	c.1144C>T	c.(1144-1146)Ccc>Tcc	p.P382S	ZNF238_uc001iae.3_Missense_Mutation_p.P373S|ZNF238_uc001iaf.1_3'UTR	NM_205768	NP_006343	Q99592	ZN238_HUMAN	Homo sapiens zinc finger protein 238 (ZNF238), transcript variant 1, mRNA.	373	Interaction with DNMT3A.				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(5)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			CTTCATGTGCCCCCTGTGCAA	0.657000														25			12		0	0	0.013537	0	0
C1orf116	79098	broad.mit.edu	37	1	207196511	207196511	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:207196511G>A	uc001hfd.2	-	3	857	c.598C>T	c.(598-600)Ccg>Tcg	p.P200S	C1orf116_uc009xcb.1_5'UTR|C1orf116_uc021pii.1_5'Flank	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN	Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA.	200						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GCTTCTGGCGGAGGGATGAGC	0.657000														101			57		0	0	0.014410	0	0
TFEB	7942	broad.mit.edu	37	6	41653836	41653836	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:41653836G>A	uc021yzl.1	-	6	1145	c.1144C>T	c.(1144-1146)Cgt>Tgt	p.R382C	TFEB_uc003oqs.1_Missense_Mutation_p.R315C|TFEB_uc003oqt.1_Missense_Mutation_p.R315C|TFEB_uc003oqu.1_Missense_Mutation_p.R315C|TFEB_uc003oqr.1_Missense_Mutation_p.R230C	NM_007162	NP_009093	P19484	TFEB_HUMAN	Homo sapiens transcription factor EB (TFEB), transcript variant 1, mRNA.	315	Pro-rich.				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			ACCTGGATACGGAGCCAGAGC	0.542000			T	ALPHA	renal (childhood epithelioid)									66			20		0	0	0.002780	0	0
EBF2	64641	broad.mit.edu	37	8	25718576	25718576	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:25718576C>T	uc003xes.2	-	12	1596	c.1331G>A	c.(1330-1332)gGa>gAa	p.G444E	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	444					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.G444E(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTGATTATTTCCTTGTGTTGA	0.473000														78			45		0	0	0.009718	0	0
MRPL45P2	653479	broad.mit.edu	37	17	45534160	45534160	+	Splice_Site	SNP	C	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:45534160C>G	uc002ilp.2	-	5		c.635_splice	c.e5-1		MRPL45P2_uc002ilq.3_Splice_Site					Homo sapiens mitochondrial ribosomal protein L45 pseudogene 2 (MRPL45P2), non-coding RNA.																		TGGGCCCAACCTAAAAATAAA	0.338000														15			7		0	0	0.001984	0	0
THSD4	79875	broad.mit.edu	37	15	72020956	72020956	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:72020956G>A	uc002atb.1	+	7	1505	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K	THSD4_uc002atd.1_Missense_Mutation_p.E150K|THSD4_uc010ukg.1_Missense_Mutation_p.E116K|THSD4_uc002ate.2_Missense_Mutation_p.E116K	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	476						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGGAAAATACGAGGGCGGAGG	0.507000														149			30		0	0	0.006320	0	0
OR4N5	390437	broad.mit.edu	37	14	20612138	20612138	+	Silent	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:20612138T>C	uc010tla.2	+	0	244	c.244T>C	c.(244-246)Ttg>Ctg	p.L82L		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TCCCAGGATGTTGGTGGACTT	0.488000														133			68		0	0	0.014410	0	0
SOGA3	387104	broad.mit.edu	37	6	127797415	127797415	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:127797415C>T	uc003qbd.3	-	5	2621	c.1756G>A	c.(1756-1758)Gag>Aag	p.E586K	KIAA0408_uc003qbc.3_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	586						integral to membrane		p.E586*(1)									AGCTTGAGCTCGGCCTCCCTA	0.557000														64			54		0	0	0.014410	0	0
ATP7B	540	broad.mit.edu	37	13	52539167	52539167	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:52539167G>A	uc001vfw.2	-	4	1867	c.1710C>T	c.(1708-1710)atC>atT	p.I570I	ATP7B_uc001vfy.2_Silent_p.I459I|ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Silent_p.I570I|ATP7B_uc010tgt.1_Silent_p.I570I|ATP7B_uc010tgu.1_Silent_p.I570I|ATP7B_uc010tgv.1_Silent_p.I570I|ATP7B_uc010tgw.1_Intron	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	570	HMA 6.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TCATCCCTGTGATCTGCAACA	0.537000									Wilson disease					46			15		0	0	0.002450	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101794093	101794093	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:101794093G>A	uc003knn.3	-	5	1296	c.1124C>T	c.(1123-1125)gCt>gTt	p.A375V	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Missense_Mutation_p.A375V|SLCO6A1_uc003knq.3_Missense_Mutation_p.A313V	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	375						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)		TACCCAAAGAGCAGCACATAA	0.313000														87			48		0	0	0.014410	0	0
TRPC3	7222	broad.mit.edu	37	4	122835986	122835987	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:122835986_122835987GG>AA	uc003ieg.2	-	3	1363_1364	c.1289_1290CC>TT	c.(1288-1290)gcc>gTT	p.A430V	TRPC3_uc010inr.2_Intron|TRPC3_uc003ief.2_Missense_Mutation_p.A357V|TRPC3_uc011cgl.1_Missense_Mutation_p.A94V	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	345					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GAAGGCCCAGGGCCACGACCAG	0.540000														34			22		0	0	0.004672	0	0
DNAH5	1767	broad.mit.edu	37	5	13871769	13871769	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:13871769C>T	uc003jfd.2	-	22	3544	c.3502G>A	c.(3502-3504)Gaa>Aaa	p.E1168K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1168	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E1168K(2)		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)					GACTCAAATTCAGAAAGCAAG	0.403000									Kartagener syndrome					36			25		0	0	0.002780	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74913986	74913986	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:74913986C>T	uc001owb.3	+	11	2199	c.1804C>T	c.(1804-1806)Cag>Tag	p.Q602*	SLCO2B1_uc010rrq.2_Nonsense_Mutation_p.Q347*|SLCO2B1_uc010rrr.2_Nonsense_Mutation_p.Q458*|SLCO2B1_uc010rrs.2_Nonsense_Mutation_p.Q486*|SLCO2B1_uc001owc.3_Nonsense_Mutation_p.Q375*|SLCO2B1_uc001owd.3_Nonsense_Mutation_p.Q580*	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	602					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	TGTGGGCATCCAGTTCATGTT	0.547000														49			48		0	0	0.014410	0	0
TRPV1	7442	broad.mit.edu	37	17	3495376	3495376	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:3495376C>G	uc010vro.2	-	0	302	c.269G>C	c.(268-270)gGc>gCc	p.G90A	TRPV1_uc010vrp.2_Missense_Mutation_p.G90A|TRPV1_uc010vrq.2_Missense_Mutation_p.A65P|TRPV1_uc010vrr.2_Missense_Mutation_p.G90A|TRPV1_uc010vrs.2_Missense_Mutation_p.G90A|TRPV1_uc010vrt.2_Missense_Mutation_p.G90A|TRPV1_uc010vru.2_Missense_Mutation_p.G90A	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA.	90					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	ACCGGTGGGGCCGTCTCCTGG	0.647000														14			14		0	0	0.002450	0	0
BCAR3	8412	broad.mit.edu	37	1	94041571	94041571	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:94041571C>T	uc001dpz.3	-	8	2077	c.1802_splice	c.e8+1	p.R601_splice	BCAR3_uc001dqa.3_Splice_Site_p.R601_splice|BCAR3_uc001dqb.3_Splice_Site_p.R601_splice|BCAR3_uc001dpx.4_Splice_Site_p.R277_splice|BCAR3_uc001dpy.3_Splice_Site_p.R510_splice|BCAR3_uc009wdm.1_Splice_Site_p.R277_splice	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	601	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CACTGCTCACCTTTCAATTAT	0.572000														34			30		0	0	0.006320	0	0
OR10Z1	128368	broad.mit.edu	37	1	158577052	158577052	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:158577052C>T	uc010pio.2	+	0	824	c.824C>T	c.(823-825)gCc>gTc	p.A275V		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CAGCTTATTGCCATGACCTAT	0.473000														197			104		0	0	0.014410	0	0
ATP2B2	491	broad.mit.edu	37	3	10401739	10401739	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:10401739G>A	uc003bvt.3	-	12	2167	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	ATP2B2_uc003bvv.3_Silent_p.F531F|ATP2B2_uc003bvw.3_Silent_p.F531F|ATP2B2_uc010hdo.3_Silent_p.F281F	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	576					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding	p.R576C(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGTCCAGCACGAAGCCCAGCA	0.627000														43			19		0	0	0.010504	0	0
TP63	8626	broad.mit.edu	37	3	189607196	189607196	+	Silent	SNP	C	T	T	rs147389337	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:189607196C>T	uc003fry.2	+	11	1664	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L	TP63_uc003frz.2_Silent_p.L525L|TP63_uc010hzc.1_Intron|TP63_uc003fsc.2_Silent_p.L431L|TP63_uc003fsd.2_Silent_p.L431L|TP63_uc021xir.1_Intron|TP63_uc010hzd.1_Silent_p.L346L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	525					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCCAGGCACTCCCTCCCCCAC	0.577000										HNSCC(45;0.13)				43			21		0	0	0.008871	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55331457	55331457	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:55331457C>T	uc002qhl.4	+	3	708	c.645C>T	c.(643-645)atC>atT	p.I215I	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Silent_p.I215I|KIR3DL2_uc010esf.3_Silent_p.I120I|KIR3DL2_uc021vbo.1_Silent_p.I215I|KIR3DL2_uc002qhk.4_Silent_p.I215I			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	215					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)		CCCTGGACATCGTGGTCACAG	0.527000														24			44		0	0	0.014410	0	0
FAM196A	642938	broad.mit.edu	37	10	128974181	128974181	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:128974181C>A	uc001lju.1	-	0	520	c.479G>T	c.(478-480)cGg>cTg	p.R160L	DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.R160L|FAM196A_uc001ljv.1_Missense_Mutation_p.R160L|FAM196A_uc009yap.1_Missense_Mutation_p.R160L	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA.	160										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GCCACATGGCCGGGCCTCCTC	0.547000														69			4		0.00909568	0.00998856	0.009096	1	0
OR2A2	442361	broad.mit.edu	37	7	143806807	143806807	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:143806807C>T	uc011ktz.2	+	0	132	c.132C>T	c.(130-132)atC>atT	p.I44I		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I44I(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ATGGGGTCATCTTTGGGATTA	0.507000														118			71		0	0	0.014410	0	0
OR5K4	403278	broad.mit.edu	37	3	98073291	98073291	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:98073291G>A	uc011bgv.2	+	0	594	c.594G>A	c.(592-594)atG>atA	p.M198I		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						ATGAACTAATGATATATATCT	0.328000														24			22		0	0	0.010504	0	0
COL28A1	340267	broad.mit.edu	37	7	7484055	7484055	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:7484055C>T	uc003src.1	-	18	1692	c.1575G>A	c.(1573-1575)ggG>ggA	p.G525G	COL28A1_uc011jxe.1_Silent_p.G208G|COL28A1_uc003srd.3_Silent_p.G80G	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	525	Collagen-like 4.				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)		TTACCTTCTTCCCTGCAGCTC	0.453000														77			45		0	0	0.014410	0	0
LY9	4063	broad.mit.edu	37	1	160769762	160769762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:160769762C>T	uc001fwu.3	+	1	394	c.344C>T	c.(343-345)tCc>tTc	p.S115F	LY9_uc001fwt.3_Missense_Mutation_p.S115F|LY9_uc010pjs.1_Missense_Mutation_p.S115F|LY9_uc001fwv.3_Missense_Mutation_p.S115F|LY9_uc001fww.3_Missense_Mutation_p.S115F|LY9_uc001fwy.1_Missense_Mutation_p.S17F	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	115	Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGGAGTTACTCCCTGTGCATC	0.463000														83			42		0	0	0.008740	0	0
RASGRF1	5923	broad.mit.edu	37	15	79298706	79298706	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:79298706G>A	uc002beq.3	-	14	2311	c.1936C>T	c.(1936-1938)Ctg>Ttg	p.L646L	RASGRF1_uc002bep.3_Silent_p.L633L|RASGRF1_uc010blm.1_Silent_p.L555L|RASGRF1_uc002ber.4_Silent_p.L633L|RASGRF1_uc010unh.1_Silent_p.L41L	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	646	N-terminal Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CGGATCTGCAGCACTTTGCAG	0.557000														52			27		0	0	0.004656	0	0
SHANK1	50944	broad.mit.edu	37	19	51170630	51170630	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:51170630G>A	uc002psx.1	-	21	4606	c.4587C>T	c.(4585-4587)ccC>ccT	p.P1529P	SHANK1_uc002psw.1_Silent_p.P913P	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	1529					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGGTCGGGGAGGGGGGCACGG	0.736000														14			7		0	0	0.003080	0	0
CPA2	1358	broad.mit.edu	37	7	129909541	129909541	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:129909541G>A	uc003vpq.3	+	2	205	c.186G>A	c.(184-186)ggG>ggA	p.G62G	CPA2_uc011kpc.1_Silent_p.G62G	NM_001869	NP_001860	P48052	CBPA2_HUMAN	Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA.	62					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CCACCCCAGGGGAGACAGCCC	0.507000														59			10		0	0	0.010729	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77398203	77398203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:77398203G>A	uc002ffc.4	-	4	1273	c.854C>T	c.(853-855)tCa>tTa	p.S285L	ADAMTS18_uc010chc.1_5'Flank|ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	285					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S285*(2)|p.R284K(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTTTCCAGCTGATCTTCTGGG	0.483000														41			20		0	0	0.012319	0	0
POM121L12	285877	broad.mit.edu	37	7	53103675	53103676	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:53103675_53103676GG>AA	uc003tpz.3	+	0	327_328	c.311_312GG>AA	c.(310-312)ggg>gAA	p.G104E		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	104										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCCCTTCCCGGGGAGACCGCTC	0.718000														16			12		0	0	0.004672	0	0
TCRB	0	broad.mit.edu	37	7	142119855	142119855	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:142119855C>T	uc022anf.1	-	1	356	c.327G>A	c.(325-327)cgG>cgA	p.R109R	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022ane.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		TGGCTGAGTCCCGCTGCTCTG	0.562000														54			24		0	0	0.005443	0	0
HDAC7	51564	broad.mit.edu	37	12	48188615	48188615	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:48188615G>A	uc010slo.2	-	11	1581	c.1386C>T	c.(1384-1386)ggC>ggT	p.G462G	HDAC7_uc001rqe.3_5'Flank|HDAC7_uc001rqj.4_Silent_p.G425G|HDAC7_uc001rqk.4_Silent_p.G445G	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA.	423	Transcription repression 2 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		TGTGCTCCAGGCCATCGTCCA	0.687000														63			28		0	0	0.005443	0	0
PCLO	27445	broad.mit.edu	37	7	82580135	82580135	+	Silent	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:82580135A>G	uc003uhx.2	-	5	10058	c.9769T>C	c.(9769-9771)Ttg>Ctg	p.L3257L	PCLO_uc003uhv.2_Silent_p.L3257L|PCLO_uc010lec.3_Silent_p.L222L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3188					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.L3257L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGCTCCTCCAACTTTTTCTGA	0.463000														101			44		0	0	0.011902	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113611	117113611	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:117113611G>A	uc003pxj.1	-	5	2497	c.2475C>T	c.(2473-2475)atC>atT	p.I825I	GPRC6A_uc003pxk.1_Silent_p.I650I|GPRC6A_uc003pxl.1_Silent_p.I754I	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	825					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGCAATACAGGATTCCATAGT	0.358000														37			19		0	0	0.006122	0	0
SARDH	1757	broad.mit.edu	37	9	136561368	136561368	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:136561368G>A	uc004cep.4	-	13	1918	c.1784C>T	c.(1783-1785)tCc>tTc	p.S595F	SARDH_uc004ceo.3_Missense_Mutation_p.S595F|SARDH_uc011mdo.2_Missense_Mutation_p.S427F|SARDH_uc011mdn.2_Missense_Mutation_p.S595F|SARDH_uc004cen.3_Missense_Mutation_p.S23F	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	595					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GACATCTGCGGAGAAGAGCCA	0.617000														18			16		0	0	0.004990	0	0
TMEM131	23505	broad.mit.edu	37	2	98411450	98411450	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:98411450G>A	uc002syh.4	-	28	3558	c.3329C>T	c.(3328-3330)gCc>gTc	p.A1110V		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	1110						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCTGGGTAGGGCTTCTGCACA	0.388000														19			5		0	0	0.000602	0	0
KCNH5	27133	broad.mit.edu	37	14	63316382	63316382	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:63316382C>T	uc001xfx.3	-	7	1609	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N	KCNH5_uc001xfy.3_Missense_Mutation_p.D520N|KCNH5_uc001xfz.1_Missense_Mutation_p.D462N	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	520					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)		TTTTCTGTATCAATGCCTTTT	0.358000														57			38		0	0	0.004878	0	0
SLC36A3	285641	broad.mit.edu	37	5	150682794	150682794	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:150682794C>T	uc003ltx.2	-	0	541	c.122G>A	c.(121-123)gGa>gAa	p.G41E	SLC36A3_uc003ltw.2_Missense_Mutation_p.G41E	NM_001145017	NP_001138489	Q495N2	S36A3_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 3 (SLC36A3), transcript variant 1, mRNA.	41						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTACGATAGTCCAGCTTCTCC	0.512000														41			6		0	0	0.001984	0	0
CCS	9973	broad.mit.edu	37	11	66373037	66373037	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:66373037C>T	uc001oir.3	+	6	688	c.645C>T	c.(643-645)tcC>tcT	p.S215S		NM_005125	NP_005116	O14618	CCS_HUMAN	Homo sapiens copper chaperone for superoxide dismutase (CCS), mRNA.	215	Superoxide dismutase-like.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						ATCCCTTATCCAAGATCACAG	0.602000														46			38		0	0	0.014410	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033111	52033111	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:52033111C>T	uc002pwy.3	-	4	1087	c.879G>A	c.(877-879)ctG>ctA	p.L293L	SIGLEC6_uc002pwz.3_Silent_p.L277L|SIGLEC6_uc010ydb.2_Silent_p.L241L|SIGLEC6_uc010ydc.2_Silent_p.L304L|SIGLEC6_uc002pxa.3_Silent_p.L293L|SIGLEC6_uc010eoz.2_Silent_p.L282L|SIGLEC6_uc010epa.2_Silent_p.L282L|SIGLEC6_uc010epb.2_Silent_p.L246L	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	293	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GGGTGGCGTTCAGGGCGGGGA	0.642000														79			30		0	0	0.003271	0	0
MFSD1	64747	broad.mit.edu	37	3	158539415	158539415	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:158539415C>T	uc003fcl.2	+	9	1120	c.1040C>T	c.(1039-1041)tCt>tTt	p.S347F	MFSD1_uc011bow.2_Missense_Mutation_p.S308F|MFSD1_uc003fcm.2_Non-coding_Transcript|MFSD1_uc003fcn.2_Missense_Mutation_p.S201F	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	Homo sapiens major facilitator superfamily domain containing 1 (MFSD1), transcript variant 1, mRNA.	298					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTTGGATTTTCTTCCCAGGCA	0.284000														57			32		0	0	0.006999	0	0
CPE	1363	broad.mit.edu	37	4	166405696	166405696	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:166405696G>A	uc003irg.4	+	4	1190	c.913G>A	c.(913-915)Gat>Aat	p.D305N		NM_001873	NP_001864	P16870	CBPE_HUMAN	Homo sapiens carboxypeptidase E (CPE), mRNA.	305					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAAGAATGATGATGACAGCAG	0.517000														249			118		0	0	0.014410	0	0
ZBTB41	360023	broad.mit.edu	37	1	197128967	197128967	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:197128967G>A	uc001gtx.1	-	9	2321	c.2252C>T	c.(2251-2253)tCt>tTt	p.S751F	ZBTB41_uc009wyz.1_Non-coding_Transcript	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	Homo sapiens zinc finger and BTB domain containing 41 (ZBTB41), mRNA.	751					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						ATCATCAGGAGATTTTATTTC	0.378000														98			42		0	0	0.010771	0	0
FCGBP	8857	broad.mit.edu	37	19	40395813	40395813	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:40395813C>T	uc002omp.4	-	14	7592	c.7584G>A	c.(7582-7584)tgG>tgA	p.W2528*		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2528	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCGTGACCTTCCACTGTCTCT	0.642000														145			31		0	0	0.014410	0	0
KITLG	4254	broad.mit.edu	37	12	88910131	88910131	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:88910131G>A	uc001tav.3	-	4	695	c.500C>T	c.(499-501)tCa>tTa	p.S167L	KITLG_uc009zsn.3_Intron|KITLG_uc001taw.3_Missense_Mutation_p.S167L|KITLG_uc009zso.1_Intron	NM_000899	NP_000890	P21583	SCF_HUMAN	Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA.	167					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						ACTTAATGTTGAAGAAACCAC	0.348000									Testicular Cancer, Familial Clustering of					134			78		0	0	0.014410	0	0
SLC8A1	6546	broad.mit.edu	37	2	40405527	40405527	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:40405527C>T	uc002rrx.3	-	2	1939	c.1915_splice	c.e2+1	p.A639_splice	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Splice_Site_p.A639_splice|SLC8A1_uc002rsb.2_Intron|SLC8A1_uc002rrz.3_Intron|SLC8A1_uc002rsa.3_Intron|SLC8A1_uc002rsd.4_Intron	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	639					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GCTCCCCCACCTTTCTTCTCA	0.512000														80			89		0	0	0.014410	0	0
PEG3	5178	broad.mit.edu	37	19	57326059	57326059	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:57326059C>T	uc002qnu.2	-	6	4102	c.3751G>A	c.(3751-3753)Gat>Aat	p.D1251N	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.D1222N|PEG3_uc002qnv.2_Missense_Mutation_p.D1251N|PEG3_uc002qnw.2_Missense_Mutation_p.D1127N|PEG3_uc002qnx.2_Missense_Mutation_p.D1125N|PEG3_uc010etr.2_Missense_Mutation_p.D1251N	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1251					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)		TCCAGTAAATCATCTTCCCTA	0.483000														28			9		0	0	0.004482	0	0
DNAH7	56171	broad.mit.edu	37	2	196822162	196822162	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:196822162C>T	uc002utj.4	-	18	3002	c.2901G>A	c.(2899-2901)gaG>gaA	p.E967E		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	967	Stem (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						GGAGCTTGCCCTCCCATTCTC	0.453000														16			4		0	0	0.000602	0	0
RGS6	9628	broad.mit.edu	37	14	72985220	72985220	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:72985220G>A	uc001xna.4	+	14	1776	c.1253G>A	c.(1252-1254)gGg>gAg	p.G418E	RGS6_uc021rvv.1_Missense_Mutation_p.G383E|RGS6_uc010ttn.2_Missense_Mutation_p.G418E|RGS6_uc021rvw.1_Missense_Mutation_p.G418E|RGS6_uc021rvx.1_Missense_Mutation_p.G418E|RGS6_uc021rvy.1_Missense_Mutation_p.G381E|RGS6_uc021rvz.1_Missense_Mutation_p.G381E|RGS6_uc001xmy.4_Missense_Mutation_p.G418E|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.G418E|RGS6_uc021rwa.1_Missense_Mutation_p.G381E|RGS6_uc021rwb.1_Missense_Mutation_p.G381E|RGS6_uc010ttp.1_Missense_Mutation_p.G349E|RGS6_uc021rwc.1_Missense_Mutation_p.G279E	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	418	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		AAAGATGGAGGGAGATATACA	0.438000														32			19		0	0	0.006122	0	0
LIMK2	3985	broad.mit.edu	37	22	31663834	31663834	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:31663834C>T	uc003akh.3	+	9	1346	c.1201C>T	c.(1201-1203)Ctg>Ttg	p.L401L	LIMK2_uc003aki.3_Silent_p.L155L|LIMK2_uc003akj.3_Silent_p.L380L|LIMK2_uc003akk.3_Silent_p.L380L|LIMK2_uc011aln.2_Silent_p.L318L	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	401	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GGATAAGAAGCTGAACCTCCT	0.552000														59			35		0	0	0.003271	0	0
FMO3	2328	broad.mit.edu	37	1	171079947	171079947	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:171079947C>T	uc001ghi.3	+	5	747	c.636C>T	c.(634-636)atC>atT	p.I212I	FMO3_uc001ghh.3_Silent_p.I212I|FMO3_uc010pmb.2_Silent_p.I192I|FMO3_uc010pmc.2_Silent_p.I149I	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	212					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGGTCATGATCAGTTCCAGAA	0.468000														110			27		0	0	0.006320	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146558	70146558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:70146558G>A	uc003hej.3	+	0	342	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	UGT2B28_uc010ihr.3_Missense_Mutation_p.E114K	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	114					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	ACAAGAACAAGAAATCCTGTG	0.289000														88			62		0	0	0.014410	0	0
RDH12	145226	broad.mit.edu	37	14	68193771	68193771	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:68193771C>T	uc001xjz.4	+	6	846	c.522C>T	c.(520-522)tcC>tcT	p.S174S		NM_152443	NP_689656	Q96NR8	RDH12_HUMAN	Homo sapiens retinol dehydrogenase 12 (all-trans/9-cis/11-cis) (RDH12), mRNA.	174					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	TTAATGTGTCCTCGGTGGCTC	0.582000														48			14		0	0	0.004990	0	0
C1RL	51279	broad.mit.edu	37	12	7260858	7260858	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:7260858C>A	uc001qsn.3	-	1	382	c.289G>T	c.(289-291)Gac>Tac	p.D97Y	C1RL_uc009zft.3_Missense_Mutation_p.D97Y|C1RL_uc001qso.2_Missense_Mutation_p.D97Y|MATL2963_uc001qsp.3_5'Flank|MATL2963_uc010sgb.1_5'Flank	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	Homo sapiens complement component 1, r subcomponent-like (C1RL), mRNA.	97	CUB.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTGACAGAGTCCCCTGCACAG	0.642000														25			18		1.56452e-12	1.73723e-12	0.007413	1	0
SLC27A6	28965	broad.mit.edu	37	5	128320951	128320951	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:128320951G>A	uc003kuy.3	+	2	1003	c.607G>A	c.(607-609)Gag>Aag	p.E203K	SLC27A6_uc003kuz.3_Missense_Mutation_p.E203K	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	203					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CTCACCTGATGAGCCCGTGCC	0.438000														44			11		0	0	0.001855	0	0
ITK	3702	broad.mit.edu	37	5	156635902	156635902	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:156635902G>A	uc003lwo.1	+	1	223	c.141G>A	c.(139-141)aaG>aaA	p.K47K		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	47	PH.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCCCACAGAAGAAGCGCACGC	0.433000			T	SYK	peripheral T-cell lymphoma									111			67		0	0	0.014410	0	0
ZNF793	390927	broad.mit.edu	37	19	38028636	38028636	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:38028636G>A	uc010efm.3	+	7	1518	c.1076G>A	c.(1075-1077)aGa>aAa	p.R359K	ZNF793_uc010xts.2_Missense_Mutation_p.R359K	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	Homo sapiens zinc finger protein 793 (ZNF793), mRNA.	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAACATTGGAGAACTCACACA	0.448000														42			29		0	0	0.013726	0	0
NAT10	55226	broad.mit.edu	37	11	34161016	34161016	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:34161016G>A	uc001mvk.3	+	22	2637	c.2393G>A	c.(2392-2394)aGg>aAg	p.R798K	NAT10_uc010ren.2_Missense_Mutation_p.R726K	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.	798	Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				ATTCAGAACAGGAACATGGGG	0.592000														111			31		0	0	0.010818	0	0
ITGA8	8516	broad.mit.edu	37	10	15639292	15639292	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:15639292G>A	uc001ioc.1	-	20	2125	c.2125C>T	c.(2125-2127)Cga>Tga	p.R709*	ITGA8_uc010qcb.1_Nonsense_Mutation_p.R694*	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	709					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CTCAGTGGTCGAAATCCCTAC	0.502000														66			12		0	0	0.010729	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47560288	47560288	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:47560288G>A	uc001cqu.1	+	6	826	c.823G>A	c.(823-825)Gat>Aat	p.D275N		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	275						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GCTAAAACAAGATACTACTCA	0.353000														53			25		0	0	0.004289	0	0
PNPLA6	10908	broad.mit.edu	37	19	7614993	7614993	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:7614993C>T	uc010xjq.2	+	15	2076	c.1836C>T	c.(1834-1836)ttC>ttT	p.F612F	PNPLA6_uc002mgq.2_Silent_p.F564F|PNPLA6_uc010xjp.2_Silent_p.F538F|PNPLA6_uc002mgr.2_Silent_p.F564F|PNPLA6_uc002mgs.3_Silent_p.F603F	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	603					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AGTCCGACTTCTATGAGTATG	0.607000														55			33		0	0	0.003755	0	0
TUBA4A	7277	broad.mit.edu	37	2	220115861	220115861	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:220115861G>A	uc002vkt.1	-	3	618	c.560C>T	c.(559-561)tCt>tTt	p.S187F	TUBA4A_uc010zkz.1_Missense_Mutation_p.S172F|TUBA4B_uc002vku.3_5'Flank|TUBA4B_uc002vkv.1_5'Flank	NM_006000	NP_005991	P68366	TBA4A_HUMAN	Homo sapiens tubulin, alpha 4a (TUBA4A), mRNA.	187					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCAGGATAGAGTTGTAGGG	0.552000														63			40		0	0	0.008740	0	0
NEB	4703	broad.mit.edu	37	2	152512907	152512907	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:152512907G>A	uc021vrb.1	-	46	6284	c.6255C>T	c.(6253-6255)ccC>ccT	p.P2085P	NEB_uc002txu.3_Silent_p.P2085P|NEB_uc021vrc.1_Silent_p.P2085P|NEB_uc010fnx.3_Silent_p.P2085P|NEB_uc021vrd.1_Silent_p.P2085P	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2085					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)		GGACTAATTTGGGATCATCCT	0.413000														57			55		0	0	0.014410	0	0
IFRD2	7866	broad.mit.edu	37	3	50329948	50329948	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:50329948G>A	uc003czb.3	-	2	310	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	IFRD2_uc011bdp.2_5'UTR	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA.	0							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCAGAGGCCTGAGCGCGCAGG	0.657000														23			11		0	0	0.002450	0	0
MLL2	8085	broad.mit.edu	37	12	49421009	49421009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:49421009G>A	uc001rta.4	-	47	14740	c.14740C>T	c.(14740-14742)Ccc>Tcc	p.P4914S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4914	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	p.V4914fs*59(2)		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						GGCGGGGAGGGTTCTTCAGGA	0.632000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				101			76		0	0	0.014410	0	0
HYDIN	54768	broad.mit.edu	37	16	70871691	70871691	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:70871691G>A	uc002ezr.3	-	76	13292	c.13141C>T	c.(13141-13143)Cct>Tct	p.P4381S	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4382										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)				CTTTCTCGAGGATAAAAAGTT	0.418000														45			9		0	0	0.010729	0	0
VIM	7431	broad.mit.edu	37	10	17276783	17276783	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:17276783C>T	uc001iou.2	+	5	1387	c.974C>T	c.(973-975)tCc>tTc	p.S325F		NM_003380	NP_003371	P08670	VIME_HUMAN	Homo sapiens vimentin (VIM), mRNA.	325	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	p.Q324*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGGTGCAGTCCCTCACCTGT	0.537000														58			9		0	0	0.006214	0	0
EBF2	64641	broad.mit.edu	37	8	25745471	25745471	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:25745471C>T	uc003xes.2	-	8	1034	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	257	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GGGCTAATGGCTTTGATGCAG	0.493000														44			24		0	0	0.005443	0	0
SAMD11	148398	broad.mit.edu	37	1	865649	865649	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:865649C>T	uc001abw.1	+	2	267	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S	SAMD11_uc001abv.1_Missense_Mutation_p.P63S	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	Homo sapiens sterile alpha motif domain containing 11 (SAMD11), mRNA.	63						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CGGGAGTGGCCCCACCTGTGG	0.637000														9			7		0	0	0.003080	0	0
PCDH15	65217	broad.mit.edu	37	10	55600225	55600225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:55600225G>A	uc010qhy.1	-	29	4248	c.3853C>T	c.(3853-3855)Cct>Tct	p.P1285S	PCDH15_uc010qhq.2_Missense_Mutation_p.P1285S|PCDH15_uc010qhr.2_Missense_Mutation_p.P1280S|PCDH15_uc021pqv.1_Missense_Mutation_p.P1280S|PCDH15_uc021pqw.1_Missense_Mutation_p.P1292S|PCDH15_uc010qht.2_Missense_Mutation_p.P1287S|PCDH15_uc021pqx.1_Missense_Mutation_p.P1280S|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.P1280S|PCDH15_uc021pqz.1_Missense_Mutation_p.P1258S|PCDH15_uc010qhv.1_Missense_Mutation_p.P1280S|PCDH15_uc010qhw.1_Missense_Mutation_p.P1243S|PCDH15_uc010qhx.1_Missense_Mutation_p.P1209S|PCDH15_uc010qhz.1_Missense_Mutation_p.P1280S|PCDH15_uc010qia.1_Missense_Mutation_p.P1258S|PCDH15_uc001jju.1_Missense_Mutation_p.P1280S|PCDH15_uc010qib.1_Missense_Mutation_p.P1258S	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1280					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)				TTGGCACCAGGAATTTGTTCC	0.428000										HNSCC(58;0.16)				34			9		0	0	0.006214	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42860336	42860336	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr21:42860336C>T	uc010gor.3	-	4	602	c.541G>A	c.(541-543)Gac>Aac	p.D181N	TMPRSS2_uc002yzj.3_Missense_Mutation_p.D144N|TMPRSS2_uc010gos.1_Missense_Mutation_p.D144N	NM_001135099	NP_005647	O15393	TMPS2_HUMAN	Homo sapiens transmembrane protease, serine 2 (TMPRSS2), transcript variant 1, mRNA.	144	SRCR.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				CGATTCTCGTCCTCCCCGCCG	0.612000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate									21			24		0	0	0.008361	0	0
MUC16	94025	broad.mit.edu	37	19	9048764	9048764	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9048764A>G	uc002mkp.3	-	4	33071	c.32867T>C	c.(32866-32868)cTt>cCt	p.L10956P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10958	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						TGGTTCACCAAGAGAAAAAGT	0.498000														85			15		0	0	0.003163	0	0
KCNH5	27133	broad.mit.edu	37	14	63174777	63174777	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:63174777C>T	uc001xfx.3	-	10	2467	c.2416G>A	c.(2416-2418)Gga>Aga	p.G806R	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.	806					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)		TTTCCATTTCCATTCTTCATT	0.458000														94			36		0	0	0.004289	0	0
CEACAM7	1087	broad.mit.edu	37	19	42187798	42187798	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:42187798C>T	uc002ori.1	-	2	626	c.624G>A	c.(622-624)aaG>aaA	p.K208K	CEACAM7_uc010ehx.2_Silent_p.K208K|CEACAM7_uc010ehy.1_Intron	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.	208	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)		CTATGTCATTCTTTGTGGCGC	0.537000														103			50		0	0	0.014410	0	0
SEC24D	9871	broad.mit.edu	37	4	119659531	119659531	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:119659531A>G	uc003ici.4	-	18	2653	c.2381T>C	c.(2380-2382)tTt>tCt	p.F794S	SEC24D_uc003ich.4_Non-coding_Transcript|SEC24D_uc003icj.4_Missense_Mutation_p.F795S|SEC24D_uc003icl.2_Non-coding_Transcript	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	794					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						AACTGCTTTAAAAGCTACATC	0.383000														29			23		0	0	0.004656	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140730451	140730451	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140730451C>T	uc003ljo.2	+	0	624	c.624C>T	c.(622-624)atC>atT	p.I208I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Silent_p.I208I	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	211	Cadherin 2.				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)			ATCGCTTAATCCTGACTGCCA	0.507000														67			13		0	0	0.013537	0	0
DNM3	26052	broad.mit.edu	37	1	172357743	172357743	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:172357743G>C	uc001gie.3	+	19	2492	c.2316G>C	c.(2314-2316)agG>agC	p.R772S	DNM3_uc001gif.3_Missense_Mutation_p.R768S|DNM3_uc001gih.1_Missense_Mutation_p.R128S	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	778					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAACCCAAAGGAGGCCAACAC	0.542000														19			6		0	0	0.001984	0	0
GLI3	2737	broad.mit.edu	37	7	42012223	42012223	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:42012223G>A	uc011kbh.2	-	12	1907	c.1816C>T	c.(1816-1818)Cca>Tca	p.P606S	GLI3_uc011kbg.2_Missense_Mutation_p.P547S	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	606					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						CACACATATGGTTTCTGCCAA	0.468000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					14			16		0	0	0.003163	0	0
ZNF582	147948	broad.mit.edu	37	19	56896278	56896278	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:56896278G>A	uc002qmy.3	-	4	894	c.601C>T	c.(601-603)Cct>Tct	p.P201S	ZNF582_uc002qmz.1_Missense_Mutation_p.P170S	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	Homo sapiens zinc finger protein 582 (ZNF582), mRNA.	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TACCCAAAAGGTTTTTCTCTA	0.333000														54			22		0	0	0.012319	0	0
AGAP7	653268	broad.mit.edu	37	10	51465404	51465404	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:51465404G>A	uc001jio.3	-	6	1178	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 (AGAP7), mRNA.	351	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GAAGCATATGGAGTCACCCAG	0.547000														165			42		0	0	0.009718	0	0
LPA	4018	broad.mit.edu	37	6	160977156	160977156	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:160977156C>T	uc003qtl.3	-	30	4994	c.4874G>A	c.(4873-4875)cGa>cAa	p.R1625Q		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4133	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GAATGTGCCTCGATAACTCTG	0.488000														73			18		0	0	0.005443	0	0
DUSP13	51207	broad.mit.edu	37	10	76857511	76857511	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:76857511G>A	uc001jwr.3	-	1	195	c.132C>T	c.(130-132)aaC>aaT	p.N44N	DUSP13_uc001jws.3_3'UTR|DUSP13_uc001jwu.3_Silent_p.N137N|DUSP13_uc001jww.3_Silent_p.N94N|DUSP13_uc009xrs.3_Silent_p.N137N|DUSP13_uc001jwt.3_Silent_p.N137N|DUSP13_uc001jwv.3_Silent_p.N44N	NM_016364	NP_057448	Q6B8I1	MDSP_HUMAN	Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 6, mRNA.	36	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CATCGATATGGTTCAGTGTGG	0.612000														36			7		0	0	0.001984	0	0
OLFML3	56944	broad.mit.edu	37	1	114523737	114523737	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:114523737C>T	uc001eer.1	+	2	676	c.567C>T	c.(565-567)ttC>ttT	p.F189F	OLFML3_uc001ees.1_Silent_p.F169F|OLFML3_uc001eet.1_Silent_p.F45F	NM_020190	NP_064575	Q9NRN5	OLFL3_HUMAN	Homo sapiens olfactomedin-like 3 (OLFML3), mRNA.	189	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCGTGACTTCACCCTTGCCA	0.547000														32			20		0	0	0.007413	0	0
CTNND2	1501	broad.mit.edu	37	5	10981905	10981905	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:10981905C>T	uc003jfa.1	-	20	3542	c.3397G>A	c.(3397-3399)Gaa>Aaa	p.E1133K	CTNND2_uc010itt.2_Missense_Mutation_p.E1042K|CTNND2_uc011cmy.1_Missense_Mutation_p.E796K|CTNND2_uc011cmz.1_Missense_Mutation_p.E700K|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.E725K	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	1133					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.A1132fs*79(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTGATGTCTTCAGCGGGCGCA	0.338000														124			24		0	0	0.014323	0	0
NCF2	4688	broad.mit.edu	37	1	183529378	183529378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:183529378C>T	uc001gqj.4	-	13	1596	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	NCF2_uc010pod.2_Missense_Mutation_p.E396K|NCF2_uc010poe.2_Missense_Mutation_p.E360K|NCF2_uc001gqk.4_Missense_Mutation_p.E441K	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	441					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TTTTCACTTTCCTTGGGTTCA	0.438000														107			50		0	0	0.014410	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30101626	30101626	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:30101626C>T	uc003taq.3	+	10	1614	c.1212C>T	c.(1210-1212)gcC>gcT	p.A404A	PLEKHA8_uc022aba.1_Silent_p.A404A|PLEKHA8_uc003tan.3_Silent_p.A404A	NM_001197026	NP_001183955	Q96JA3	PKHA8_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 (PLEKHA8), transcript variant 1, mRNA.	404					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						CGACTGAAGCCCTCTTGTGGC	0.453000											OREG0017934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		41			18		0	0	0.010504	0	0
AMPD1	270	broad.mit.edu	37	1	115218614	115218614	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:115218614G>A	uc001efe.2	-	10	1546	c.1498C>T	c.(1498-1500)Cgt>Tgt	p.R500C	AMPD1_uc001eff.2_Missense_Mutation_p.R496C	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	467					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)	TTCTTGGAACGGAACACATCA	0.428000														71			38		0	0	0.006230	0	0
HSD17B3	3293	broad.mit.edu	37	9	99064372	99064372	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:99064372C>T	uc004awa.1	-	0	63	c.15G>A	c.(13-15)ctG>ctA	p.L5L	HSD17B3_uc010msc.1_Silent_p.L5L	NM_000197	NP_000188	P37058	DHB3_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3), mRNA.	5					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	AGAACTGTTCCAGGACGTCCC	0.562000														4			13		0	0	0.013537	0	0
IRX6	79190	broad.mit.edu	37	16	55363128	55363128	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:55363128C>T	uc002ehy.3	+	4	1771	c.1238C>T	c.(1237-1239)cCc>cTc	p.P413L	IRX6_uc002ehx.3_Missense_Mutation_p.P413L	NM_024335	NP_077311	P78412	IRX6_HUMAN	Homo sapiens iroquois homeobox 6 (IRX6), mRNA.	413						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						TTTGGAAACCCCAAGTTTGCC	0.617000														68			10		0	0	0.010729	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74649224	74649224	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:74649224A>C	uc001dfy.4	-	1	337	c.145T>G	c.(145-147)Tgc>Ggc	p.C49G	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	49								p.C49F(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						agagagatgcaagactgcaaa	0.303000														32			21		0	0	0.008871	0	0
GDPD5	81544	broad.mit.edu	37	11	75152223	75152223	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:75152223G>A	uc001owo.4	-	14	1995	c.1458C>T	c.(1456-1458)tcC>tcT	p.S486S	GDPD5_uc001owp.4_Silent_p.S486S|GDPD5_uc001own.4_Silent_p.S241S|GDPD5_uc009yuc.3_Silent_p.S348S|GDPD5_uc009yud.3_Silent_p.S367S	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA.	486					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						TCCAGAGGGGGGAAGGCACCT	0.647000														9			19		0	0	0.007413	0	0
AFMID	125061	broad.mit.edu	37	17	76201792	76201792	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:76201792C>T	uc002juz.3	+	8	807	c.753C>T	c.(751-753)ttC>ttT	p.F251F	AFMID_uc002jva.3_Silent_p.F251F|AFMID_uc002jvb.3_Intron	NM_001145526	NP_001138998	Q63HM1	AFMID_HUMAN	Homo sapiens arylformamidase (AFMID), transcript variant 1, mRNA.	251						cytosol|nucleus	arylformamidase activity	p.E250K(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CCCCCGAATTCCACCGACAGT	0.592000														29			13		0	0	0.002450	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74914466	74914466	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:74914466G>A	uc001owb.3	+	12	2338	c.1943G>A	c.(1942-1944)cGa>cAa	p.R648Q	SLCO2B1_uc010rrr.2_Missense_Mutation_p.R504Q|SLCO2B1_uc010rrs.2_Missense_Mutation_p.R532Q|SLCO2B1_uc001owc.3_Missense_Mutation_p.R421Q|SLCO2B1_uc001owd.3_Missense_Mutation_p.R626Q	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	648					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	GACCTGCTCCGAAACCGGTGA	0.577000														21			47		0	0	0.014410	0	0
MLL	4297	broad.mit.edu	37	11	118344458	118344458	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:118344458C>T	uc001pta.3	+	2	2607	c.2584C>T	c.(2584-2586)Cga>Tga	p.R862*	MLL_uc001ptb.3_Nonsense_Mutation_p.R862*|MLL_uc001psz.1_Nonsense_Mutation_p.R895*|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	862					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GTCCAAAGATCGAGATGCTGA	0.488000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									9			9		0	0	0.004482	0	0
VWF	7450	broad.mit.edu	37	12	6125984	6125984	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:6125984G>A	uc001qnn.1	-	28	5356	c.5106C>T	c.(5104-5106)ttC>ttT	p.F1702F	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1702	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AAGAAGCTGGGAAACTGGAGG	0.522000														96			57		0	0	0.014410	0	0
HMCN1	83872	broad.mit.edu	37	1	185964216	185964216	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:185964216C>T	uc001grq.1	+	23	4004	c.3775C>T	c.(3775-3777)Caa>Taa	p.Q1259*		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1259					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCTACATGTCCAAGGTGATTC	0.408000														42			20		0	0	0.012319	0	0
MUC16	94025	broad.mit.edu	37	19	9008192	9008193	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9008192_9008193CC>TT	uc002mkp.3	-	40	39563_39564	c.39359_39360GG>AA	c.(39358-39360)cgg>cAA	p.R13120Q	MUC16_uc010dwi.3_5'Flank|MUC16_uc010dwj.3_5'Flank|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13122	SEA 7.				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						AGAGACTGTTCCGGTCCAGGGT	0.545000														129			75		0	0	0.004672	0	0
PLCG2	5336	broad.mit.edu	37	16	81960745	81960745	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:81960745G>A	uc002fgt.3	+	22	2654	c.2476G>A	c.(2476-2478)Gac>Aac	p.D826N		NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	826	SH3.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CTACGTCGAGGACATCTCAAC	0.532000														93			33		0	0	0.003271	0	0
SYNM	23336	broad.mit.edu	37	15	99670306	99670306	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:99670306C>T	uc002bup.3	+	4	1858	c.1738C>T	c.(1738-1740)Cta>Tta	p.L580L	SYNM_uc002buo.3_Silent_p.L580L|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	581	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						GCCGATTAGTCTAGAAGTATC	0.552000														52			27		0	0	0.004656	0	0
LARS	51520	broad.mit.edu	37	5	145524223	145524223	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:145524223G>A	uc003lnx.1	-	15	1791	c.1553C>T	c.(1552-1554)tCg>tTg	p.S518L	LARS_uc011dbq.1_Missense_Mutation_p.S472L|LARS_uc011dbr.1_Missense_Mutation_p.S464L|LARS_uc011dbs.1_Missense_Mutation_p.S491L	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	Homo sapiens leucyl-tRNA synthetase (LARS), mRNA.	518					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TTCATCTGACGACCTGGACAT	0.373000														35			22		0	0	0.003954	0	0
THEMIS	387357	broad.mit.edu	37	6	128176199	128176199	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:128176199A>G	uc011ebt.2	-	1	375	c.226T>C	c.(226-228)Ttt>Ctt	p.F76L	THEMIS_uc010kfa.3_5'UTR|THEMIS_uc021zfa.1_Missense_Mutation_p.F76L|THEMIS_uc010kfb.3_Missense_Mutation_p.F41L	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	76	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GGCAGTTCAAATGGCTGTAGA	0.328000														33			14		0	0	0.003163	0	0
MKNK1	8569	broad.mit.edu	37	1	47034134	47034134	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:47034134A>C	uc001cqb.3	-	8	897	c.653T>G	c.(652-654)tTg>tGg	p.L218W	MKNK1_uc010omd.2_Missense_Mutation_p.L82W|MKNK1_uc001cqc.3_Missense_Mutation_p.L177W|MKNK1_uc009vyi.3_Missense_Mutation_p.L177W|MKNK1_uc010ome.2_Missense_Mutation_p.L82W|MKNK1_uc009vyj.3_Missense_Mutation_p.L122W|MKNK1_uc001cqd.2_Missense_Mutation_p.L165W|LOC100507423_uc021onb.1_Intron	NM_003684	NP_003675	Q9BUB5	MKNK1_HUMAN	Homo sapiens MAP kinase interacting serine/threonine kinase 1 (MKNK1), transcript variant 1, mRNA.	218	Protein kinase.				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					AGATTCACACAATATATTTTC	0.383000														34			30		0	0	0.003271	0	0
ANO5	203859	broad.mit.edu	37	11	22248924	22248924	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:22248924T>G	uc001mqi.2	+	6	757	c.440T>G	c.(439-441)tTg>tGg	p.L147W	ANO5_uc001mqj.2_Missense_Mutation_p.L146W	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	147						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						GCTGAAGTCTTGGGAATCAAA	0.433000														60			14		0	0	0.001855	0	0
FAT2	2196	broad.mit.edu	37	5	150908800	150908800	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:150908800G>A	uc003lue.4	-	13	9978	c.9965C>T	c.(9964-9966)cCc>cTc	p.P3322L	FAT2_uc003lud.4_Missense_Mutation_p.P15L	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3322	Cadherin 30.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGATCTTGGGGGAATTGGGG	0.522000														49			41		0	0	0.010771	0	0
PTPRB	5787	broad.mit.edu	37	12	70956870	70956870	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:70956870C>T	uc001swb.4	-	13	3298	c.3268G>A	c.(3268-3270)Gac>Aac	p.D1090N	PTPRB_uc010sto.2_Missense_Mutation_p.D1000N|PTPRB_uc010stp.2_Missense_Mutation_p.D1000N|PTPRB_uc001swc.4_Missense_Mutation_p.D1308N|PTPRB_uc001swa.4_Missense_Mutation_p.D1220N|PTPRB_uc001swd.4_Missense_Mutation_p.D1307N|PTPRB_uc009zrr.2_Missense_Mutation_p.D1187N	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1090	Fibronectin type-III 13.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATCCTCAGGTCGGTGACAGCT	0.557000														10			4		0	0	0.009096	0	0
MYO1F	4542	broad.mit.edu	37	19	8604837	8604837	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:8604837C>T	uc002mkg.3	-	15	1824	c.1686G>A	c.(1684-1686)aaG>aaA	p.K562K		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	562	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCACCTTGATCTTGGAGCCGG	0.632000														28			24		0	0	0.007291	0	0
SETBP1	26040	broad.mit.edu	37	18	42281737	42281737	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:42281737C>T	uc010dni.3	+	1	722	c.426C>T	c.(424-426)tcC>tcT	p.S142S	SETBP1_uc002lay.3_Silent_p.S142S	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	142						nucleus	DNA binding	p.T141T(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGAAGGTGTCCCGTGCTGGAA	0.458000									Schinzel-Giedion syndrome					28			23		0	0	0.014323	0	0
SEPT11	55752	broad.mit.edu	37	4	77949800	77949800	+	Silent	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:77949800A>G	uc011cca.2	+	9	1354	c.1002A>G	c.(1000-1002)gaA>gaG	p.E334E	SEPT11_uc010ijh.1_Silent_p.E316E|SEPT11_uc003hkj.3_Silent_p.E324E			Q9NVA2	SEP11_HUMAN	Homo sapiens septin 11 (SEPT11), mRNA.	324					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						AGACATATGAAGCAAAAAGGA	0.348000														60			38		0	0	0.005524	0	0
FAM63A	55793	broad.mit.edu	37	1	150975030	150975031	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:150975030_150975031GG>AA	uc010pcn.2	-	2	430_431	c.207_208CC>TT	c.(205-210)atccct>atTTct	p.P70S	FAM63A_uc001ewc.3_Intron|FAM63A_uc010pcm.2_Intron|FAM63A_uc001ewd.3_Intron|FAM63A_uc001ewf.3_Missense_Mutation_p.P22S|FAM63A_uc001ewg.3_Missense_Mutation_p.P22S	NM_001163258	NP_001156730	Q8N5J2	FA63A_HUMAN	Homo sapiens family with sequence similarity 63, member A (FAM63A), transcript variant 3, mRNA.	22							protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGTTTTCAGGGATGACTGCTT	0.569000														119			49		0	0	0.004672	0	0
PLCG2	5336	broad.mit.edu	37	16	81971475	81971475	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:81971475C>T	uc002fgt.3	+	27	3343	c.3165C>T	c.(3163-3165)tcC>tcT	p.S1055S		NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	1055					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CACCCGAGTCCCAGAGGAAGA	0.592000														25			20		0	0	0.008871	0	0
CLEC16A	23274	broad.mit.edu	37	16	11097026	11097026	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:11097026G>A	uc021tcy.1	+	10	1397	c.1167G>A	c.(1165-1167)aaG>aaA	p.K389K	CLEC16A_uc002dan.4_Silent_p.K387K|CLEC16A_uc002dao.3_Silent_p.K387K	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	389										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GGGTGCAAAAGAGACCCAACT	0.547000														34			16		0	0	0.004990	0	0
HPSE2	60495	broad.mit.edu	37	10	100249933	100249933	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:100249933G>A	uc001kpn.2	-	9	1414	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L	HPSE2_uc009xwc.2_Silent_p.L447L|HPSE2_uc001kpo.2_Silent_p.L389L|HPSE2_uc009xwd.2_Silent_p.L335L	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA.	447					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GGCGCTTGTAGAGGAGAGAGA	0.557000														42			36		0	0	0.003755	0	0
NLRP7	199713	broad.mit.edu	37	19	55447713	55447713	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:55447713G>T	uc002qih.4	-	5	2292	c.2216C>A	c.(2215-2217)gCa>gAa	p.A739E	NLRP7_uc010esk.3_Missense_Mutation_p.A739E|NLRP7_uc002qig.4_Missense_Mutation_p.A711E|NLRP7_uc002qii.4_Missense_Mutation_p.A739E|NLRP7_uc010esl.3_Missense_Mutation_p.A767E	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	739							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)		GATGTGCCCTGCCAGGGTCAG	0.537000														43			33		1.99505e-19	2.22285e-19	0.012213	1	0
GDF10	2662	broad.mit.edu	37	10	48429221	48429221	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:48429221G>A	uc001jfb.3	-	1	1093	c.665C>T	c.(664-666)tCc>tTc	p.S222F	GDF10_uc009xnp.3_Missense_Mutation_p.S221F|GDF10_uc009xnq.2_Missense_Mutation_p.S222F	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	222					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.S222S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CAGCTGGGCGGAGAGGAGCAG	0.706000														21			6		0	0	0.001984	0	0
TBX22	50945	broad.mit.edu	37	X	79281235	79281235	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:79281235C>T	uc010nmg.1	+	4	726	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	TBX22_uc004edi.1_Missense_Mutation_p.R78C|TBX22_uc004edj.1_Missense_Mutation_p.R198C	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.	198					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CAGCTTTGATCGCATGAAACT	0.527000														10			5		0	0	0.000602	0	0
NLRP14	338323	broad.mit.edu	37	11	7059824	7059824	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:7059824G>A	uc001mfb.1	+	1	330	c.7G>A	c.(7-9)Gat>Aat	p.D3N		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	3	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CAAGATGGCAGATTCATCATC	0.358000														69			34		0	0	0.004289	0	0
CACNA1E	777	broad.mit.edu	37	1	181701970	181701970	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:181701970G>A	uc009wxt.3	+	19	2943	c.2748G>A	c.(2746-2748)caG>caA	p.Q916Q	CACNA1E_uc001gow.3_Silent_p.Q916Q|CACNA1E_uc009wxs.3_Silent_p.Q897Q|CACNA1E_uc001gox.1_Silent_p.Q142Q	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	916					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCACAGGCAGAGCCAACGGC	0.662000														77			25		0	0	0.006320	0	0
TMEM43	79188	broad.mit.edu	37	3	14175299	14175299	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:14175299C>T	uc003byk.2	+	6	827	c.573C>T	c.(571-573)ttC>ttT	p.F191F	TMEM43_uc003byl.1_Silent_p.F71F	NM_024334	NP_077310	Q9BTV4	TMM43_HUMAN	Homo sapiens transmembrane protein 43 (TMEM43), mRNA.	191						Golgi apparatus|endoplasmic reticulum|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						GCAGGTTTTTCCTCTCGTCAG	0.587000														94			60		0	0	0.014410	0	0
SAMHD1	25939	broad.mit.edu	37	20	35526902	35526902	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:35526902G>A	uc002xgh.2	-	13	1749	c.1549C>T	c.(1549-1551)Cat>Tat	p.H517Y	SAMHD1_uc010gft.2_Intron	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	517					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AAGCTAACATGATCAATTGGA	0.353000														81			36		0	0	0.006999	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10866644	10866644	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:10866644C>T	uc002ras.3	+	2	255	c.146C>T	c.(145-147)tCc>tTc	p.S49F	ATP6V1C2_uc002rat.3_Missense_Mutation_p.S49F	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	49					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		ACCTTGGATTCCCTGGTTGGC	0.458000														51			10		0	0	0.013537	0	0
NLRP13	126204	broad.mit.edu	37	19	56424493	56424493	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:56424493C>T	uc010ygg.2	-	4	715	c.690G>A	c.(688-690)acG>acA	p.T230T		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	230	NACHT.						ATP binding	p.T230M(1)		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)		CCAAGACTATCGTCTGGGCCT	0.522000														115			58		0	0	0.014410	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417886	150417886	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:150417886G>A	uc003whq.3	+	2	934	c.794G>A	c.(793-795)tGg>tAg	p.W265*	GIMAP1-GIMAP5_uc022apw.1_Intron	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		GCCCGGCTGTGGAAGTGGCTG	0.746000														11			5		0	0	0.000602	0	0
SLC2A9	56606	broad.mit.edu	37	4	9828100	9828100	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:9828100G>A	uc003gmc.3	-	11	1605	c.1544C>T	c.(1543-1545)tCc>tTc	p.S515F	SLC2A9_uc003gmd.3_Missense_Mutation_p.S486F	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	515					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						GTTCCTTTTGGAAAATGCCTG	0.428000														92			50		0	0	0.014410	0	0
INPP1	3628	broad.mit.edu	37	2	191235713	191235713	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:191235713C>T	uc002ury.4	+	6	1485	c.785C>T	c.(784-786)gCc>gTc	p.A262V	INPP1_uc010fsb.3_Missense_Mutation_p.A262V|INPP1_uc002urx.4_Missense_Mutation_p.A262V	NM_001128928	NP_002185	P49441	INPP_HUMAN	Homo sapiens inositol polyphosphate-1-phosphatase (INPP1), transcript variant 1, mRNA.	262					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	AGTTTTTCAGCCGTAATTAGT	0.478000														76			52		0	0	0.014410	0	0
MEF2C	4208	broad.mit.edu	37	5	88047715	88047715	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:88047715G>A	uc003kjl.3	-	6	1031	c.602C>T	c.(601-603)tCt>tTt	p.S201F	MEF2C_uc021ybg.1_Missense_Mutation_p.S135F|MEF2C_uc021ybh.1_Missense_Mutation_p.S135F|MEF2C_uc003kji.2_Missense_Mutation_p.S183F|MEF2C_uc003kjj.3_Missense_Mutation_p.S183F|MEF2C_uc003kjk.3_Missense_Mutation_p.S183F|MEF2C_uc003kjm.3_Missense_Mutation_p.S181F	NM_001193347	NP_001180276	Q06413	MEF2C_HUMAN	Homo sapiens myocyte enhancer factor 2C (MEF2C), transcript variant 3, mRNA.	183					B cell proliferation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|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	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TACACCAGGAGACATACTATT	0.478000										HNSCC(66;0.2)				158			83		0	0	0.014410	0	0
MCOLN2	255231	broad.mit.edu	37	1	85424294	85424294	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:85424294G>A	uc001dkm.3	-	2	570	c.329C>T	c.(328-330)tCt>tTt	p.S110F	MCOLN2_uc001dkn.3_Non-coding_Transcript	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	Homo sapiens mucolipin 2 (MCOLN2), mRNA.	110						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		ATCTGTACCAGAATATCCTTT	0.363000														69			46		0	0	0.010771	0	0
NEB	4703	broad.mit.edu	37	2	152554087	152554087	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:152554087C>T	uc021vrb.1	-	11	1257	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N	NEB_uc002txu.3_Missense_Mutation_p.D410N|NEB_uc021vrc.1_Missense_Mutation_p.D410N|NEB_uc010fnx.3_Missense_Mutation_p.D410N|NEB_uc021vrd.1_Missense_Mutation_p.D410N|NEB_uc010fny.2_5'UTR	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	410					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	p.L409L(1)		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)		AGAACAGTATCGAGCTTGAAT	0.328000														74			21		0	0	0.002780	0	0
C9orf173	441476	broad.mit.edu	37	9	140146524	140146525	+	Missense_Mutation	DNP	CC	TT	TT	rs143046453	by1000genomes	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:140146524_140146525CC>TT	uc004cmk.1	+	2	349_350	c.337_338CC>TT	c.(337-339)ccg>TTg	p.P113L	LOC100129722_uc022bqg.1_Intron|C9orf173_uc004cmj.1_Missense_Mutation_p.P114L|C9orf173_uc011meu.1_Intron|C9orf173_uc010ncd.1_Intron|C9orf173_uc004cml.1_Missense_Mutation_p.P113L|C9orf173_uc011mev.1_Missense_Mutation_p.P113L			Q8N7X2	CI173_HUMAN	Homo sapiens chromosome 9 open reading frame 173 (C9orf173), mRNA.	114										kidney(1)|large_intestine(1)|lung(5)|pancreas(1)	8						GGTGCCGAGCCCGTCCGTACGA	0.673000														7			6		0	0	0.004672	0	0
ICK	22858	broad.mit.edu	37	6	52902746	52902747	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:52902746_52902747CC>GT	uc003pbh.2	-	3	636_637	c.146_147GG>AC	c.(145-147)cgg>cAC	p.R49H	ICK_uc003pbi.2_Missense_Mutation_p.R49H|ICK_uc003pbj.3_Missense_Mutation_p.R49H	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA.	49	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					CCTTAACCTCCCGAAGGTTCAT	0.297000														31			11		0	0	0.004672	0	0
PHRF1	57661	broad.mit.edu	37	11	607720	607720	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:607720C>T	uc001lqe.3	+	13	2395	c.2264C>T	c.(2263-2265)tCc>tTc	p.S755F	PHRF1_uc010qwc.2_Missense_Mutation_p.S754F|PHRF1_uc010qwd.2_Missense_Mutation_p.S753F|PHRF1_uc010qwe.2_Missense_Mutation_p.S751F|PHRF1_uc009ybz.1_Missense_Mutation_p.S545F|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	755							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCCCCCAGCTCCCATGGCAGT	0.667000														18			9		0	0	0.006214	0	0
CCND2	894	broad.mit.edu	37	12	4409108	4409108	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:4409108G>A	uc001qmo.3	+	4	1108	c.803G>A	c.(802-804)gGa>gAa	p.G268E		NM_001759	NP_001750	P30279	CCND2_HUMAN	Homo sapiens cyclin D2 (CCND2), mRNA.	268			G -> R (in dbSNP:rs3217921).		cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	p.G268R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			CAACGTGACGGATCCAAGTCG	0.562000			T	IGL@	"""NHL,CLL"""									30			14		0	0	0.002450	0	0
SMAD7	4092	broad.mit.edu	37	18	46468879	46468879	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:46468879C>T	uc002ldg.3	-	2	1001	c.714G>A	c.(712-714)acG>acA	p.T238T	SMAD7_uc002ldf.3_Silent_p.T50T|SMAD7_uc010xde.2_Silent_p.T23T|SMAD7_uc021ujr.1_Silent_p.T237T	NM_005904	NP_005895	O15105	SMAD7_HUMAN	Homo sapiens SMAD family member 7 (SMAD7), transcript variant 1, mRNA.	238					BMP signaling pathway|adherens junction assembly|artery morphogenesis|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	I-SMAD binding|activin binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					CCAGATAATTCGTTCCCCCTG	0.443000														133			37		0	0	0.006230	0	0
RBMS2	5939	broad.mit.edu	37	12	56980652	56980652	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:56980652C>T	uc001sln.2	+	9	1092	c.893C>T	c.(892-894)cCt>cTt	p.P298L	RBMS2_uc010sqp.1_Missense_Mutation_p.P153L|RBMS2_uc010sqq.1_Missense_Mutation_p.P173L|RBMS2_uc009zou.2_Missense_Mutation_p.P55L	NM_002898	NP_002889	Q15434	RBMS2_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 2 (RBMS2), mRNA.	298					RNA processing	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						CAGACATCTCCTCTACAAGTA	0.413000														91			51		0	0	0.014410	0	0
FBXO44	93611	broad.mit.edu	37	1	11716079	11716079	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:11716079C>T	uc010oar.2	+	1	313	c.187C>T	c.(187-189)Cag>Tag	p.Q63*	FBXO2_uc001asj.3_5'Flank|FBXO2_uc009vna.3_5'Flank|FBXO2_uc009vnb.1_5'Flank|FBXO44_uc001ask.3_Nonsense_Mutation_p.Q63*|FBXO44_uc010oaq.1_Nonsense_Mutation_p.Q63*|FBXO44_uc010oas.2_5'UTR|FBXO44_uc001asm.3_Nonsense_Mutation_p.Q63*|FBXO44_uc001asl.3_Nonsense_Mutation_p.Q63*|FBXO44_uc001asn.3_Nonsense_Mutation_p.Q63*	NM_183413	NP_904320	Q9H4M3	FBX44_HUMAN	Homo sapiens F-box protein 44 (FBXO44), transcript variant 3, mRNA.	63					protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-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;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GGACTGGGACCAGCCCGTGGC	0.632000														61			37		0	0	0.005524	0	0
RP11-165H20.1	149620	broad.mit.edu	37	1	111825603	111825603	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:111825603G>A	uc009wgb.3	+	4		c.1122_splice	c.e4-1							Homo sapiens CHIA-like pseudogene (RP11-165H20.1), non-coding RNA.																		TCCTGTACAGGAAATGCGTGA	0.448000														1			3		0	0	0.004672	0	0
SERTM1	400120	broad.mit.edu	37	13	37269247	37269247	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:37269247C>T	uc001uvt.4	+	1	478	c.32C>T	c.(31-33)tCg>tTg	p.S11L	SERTM1_uc021rii.1_Missense_Mutation_p.S11L	NM_203451	NP_982276	A2A2V5	CM036_HUMAN	Homo sapiens serine-rich and transmembrane domain containing 1 (SERTM1), mRNA.	11						integral to membrane											TCAGGATTTTCGGGAAGTGTG	0.473000														94			48		0	0	0.014410	0	0
SAMD3	154075	broad.mit.edu	37	6	130535580	130535580	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:130535580C>T	uc003qbw.3	-	3	499	c.171G>A	c.(169-171)atG>atA	p.M57I	SAMD3_uc003qbx.3_Missense_Mutation_p.M57I|SAMD3_uc010kfg.1_Missense_Mutation_p.M57I|SAMD3_uc003qby.3_Missense_Mutation_p.M57I|SAMD3_uc003qbz.1_Missense_Mutation_p.M16I	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	57	SAM.									breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TAATTAAATCCATCAGAACAG	0.458000														58			28		0	0	0.006320	0	0
BANK1	55024	broad.mit.edu	37	4	102946432	102946432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:102946432G>A	uc003hvy.4	+	8	1634	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K	BANK1_uc003hvx.4_Missense_Mutation_p.E439K|BANK1_uc010ill.3_Missense_Mutation_p.E321K|BANK1_uc003hvz.4_Missense_Mutation_p.E424K	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	454					B cell activation			p.E454*(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TGAGGCAAATGAAATGGAAGG	0.463000														67			44		0	0	0.013114	0	0
LHCGR	3973	broad.mit.edu	37	2	48936151	48936151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:48936151C>T	uc002rwu.4	-	7	686	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	STON1-GTF2A1L_uc021vhf.1_Intron|LHCGR_uc002rwv.2_Non-coding_Transcript	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	206					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.E206K(2)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TGTACGTTTTCCTTTAGCTCC	0.507000														37			40		0	0	0.006999	0	0
C8orf34	116328	broad.mit.edu	37	8	69552661	69552661	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:69552661G>T	uc010lyz.3	+	7	1447	c.1156G>T	c.(1156-1158)Ggg>Tgg	p.G386W	C8orf34_uc003xyb.3_Missense_Mutation_p.G275W	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	300					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GGTACCTTCTGGGAGCAAATT	0.413000														66			13		4.7546e-09	5.25833e-09	0.004007	1	0
SMAD6	4091	broad.mit.edu	37	15	67004021	67004021	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:67004021C>T	uc002aqf.3	+	1	1756	c.833C>T	c.(832-834)cCc>cTc	p.P278L	SMAD6_uc010bhx.3_Non-coding_Transcript|SMAD6_uc002aqg.3_Missense_Mutation_p.P17L	NM_005585	NP_005576	O43541	SMAD6_HUMAN	Homo sapiens SMAD family member 6 (SMAD6), transcript variant 1, mRNA.	278	Poly-Pro.				BMP signaling pathway|immune response|negative regulation of BMP signaling pathway|negative regulation of SMAD protein complex assembly|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	I-SMAD binding|R-SMAD binding|co-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						CCGCCACCTCCCTACTCTCGG	0.557000														79			33		0	0	0.003755	0	0
LILRB1	10859	broad.mit.edu	37	19	55143453	55143453	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:55143453C>T	uc002qgj.3	+	5	766	c.426C>T	c.(424-426)atC>atT	p.I142I	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.I142I|LILRB1_uc002qgk.3_Silent_p.I142I|LILRB1_uc002qgm.3_Silent_p.I142I|LILRB1_uc010erq.3_Silent_p.I142I|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	142	Ig-like C2-type 2.		I -> T (in dbSNP:rs1061680).		regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.I142I(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGAATGTAATCCTCCAGTGTG	0.552000										HNSCC(37;0.09)				38			19		0	0	0.007413	0	0
PRKCA	5578	broad.mit.edu	37	17	64738871	64738871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:64738871C>T	uc002jfo.1	+	13	1622	c.1130C>T	c.(1129-1131)gCc>gTc	p.A377V	PRKCA_uc002jfp.1_Missense_Mutation_p.A506V			P17252	KPCA_HUMAN	Homo sapiens protein kinase C, alpha (PRKCA), mRNA.	506	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GATTATATCGCCCCAGAGGTA	0.493000														27			16		0	0	0.004007	0	0
PDZD2	23037	broad.mit.edu	37	5	32091181	32091181	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:32091181G>A	uc003jhl.3	+	19	8015	c.7627G>A	c.(7627-7629)Gga>Aga	p.G2543R	PDZD2_uc003jhm.3_Missense_Mutation_p.G2543R	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2543					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						CTGTCCAGGAGGAAGTGGCCC	0.577000														42			17		0	0	0.006122	0	0
C2orf78	388960	broad.mit.edu	37	2	74040936	74040936	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:74040936G>A	uc002sjr.1	+	1	551	c.430G>A	c.(430-432)Gac>Aac	p.D144N		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	144										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CTCACTCAGGGACTTCACTGT	0.448000														22			12		0	0	0.013537	0	0
IFLTD1	160492	broad.mit.edu	37	12	25699394	25699394	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:25699394C>T	uc010sji.1	-	3	650	c.405G>A	c.(403-405)aaG>aaA	p.K135K	IFLTD1_uc001rgt.1_Silent_p.K17K|IFLTD1_uc001rgs.2_Silent_p.K114K|IFLTD1_uc010sjj.2_Silent_p.K51K|IFLTD1_uc009zjc.2_Silent_p.K135K	NM_001145728	NP_001139200	Q8N9Z9	ILFT1_HUMAN	Homo sapiens intermediate filament tail domain containing 1 (IFLTD1), transcript variant 1, mRNA.	114						intermediate filament	structural molecule activity	p.L134F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					CTGTAAGTTTCTTTGAATCAC	0.368000														37			22		0	0	0.014323	0	0
SLC26A2	1836	broad.mit.edu	37	5	149359901	149359901	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:149359901T>A	uc003lrh.3	+	2	1013	c.745T>A	c.(745-747)Tca>Aca	p.S249T		NM_000112	NP_000103	P50443	S26A2_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 2 (SLC26A2), mRNA.	249						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGTCTACCTCTCAGATGCCTT	0.423000														124			27		0	0	0.010818	0	0
PABPC1L	80336	broad.mit.edu	37	20	43550244	43550244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:43550244C>T	uc010ggv.1	+	5	830	c.748C>T	c.(748-750)Cat>Tat	p.H250Y	PABPC1L_uc010zwq.1_Non-coding_Transcript|PABPC1L_uc002xmv.2_5'Flank	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1-like (PABPC1L), mRNA.	250	RRM 3.						RNA binding|nucleotide binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						GGCCGTGGTCCATATGAACGG	0.612000														117			47		0	0	0.014410	0	0
TFEB	7942	broad.mit.edu	37	6	41652539	41652539	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:41652539G>A	uc021yzl.1	-	7	1431	c.1430C>T	c.(1429-1431)cCc>cTc	p.P477L	TFEB_uc003oqs.1_Missense_Mutation_p.P410L|TFEB_uc003oqt.1_Missense_Mutation_p.P410L|TFEB_uc003oqu.1_Missense_Mutation_p.P410L|TFEB_uc003oqr.1_Missense_Mutation_p.P325L	NM_007162	NP_009093	P19484	TFEB_HUMAN	Homo sapiens transcription factor EB (TFEB), transcript variant 1, mRNA.	410					embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.L476L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GTAGCCCGGGGGACCCTCGTC	0.672000			T	ALPHA	renal (childhood epithelioid)									34			16		0	0	0.006122	0	0
GALNTL5	168391	broad.mit.edu	37	7	151668142	151668142	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:151668142G>A	uc003wkp.3	+	2	630	c.360G>A	c.(358-360)agG>agA	p.R120R	GALNTL5_uc010lqf.3_5'UTR|GALNTL5_uc003wkq.3_5'UTR|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA.	120						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CAGATACCAGGAGTAAAATGT	0.328000														34			7		0	0	0.001984	0	0
ZNF71	58491	broad.mit.edu	37	19	57133999	57133999	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:57133999C>T	uc002qnm.4	+	2	1582	c.1344C>T	c.(1342-1344)atC>atT	p.I448I	ZNF71_uc021vcg.1_Silent_p.I448I	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	448						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		AGTCCTTCATCAAGAACTCCT	0.637000														25			17		0	0	0.004990	0	0
MUC16	94025	broad.mit.edu	37	19	9061493	9061493	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9061493C>T	uc002mkp.3	-	2	26157	c.25953G>A	c.(25951-25953)ggG>ggA	p.G8651G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8653	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						AAATCACAGTCCCTACATTGA	0.438000														49			26		0	0	0.004656	0	0
DPP10	57628	broad.mit.edu	37	2	116066841	116066841	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:116066841G>A	uc002tle.3	+	1	120	c.99G>A	c.(97-99)caG>caA	p.Q33Q	DPP10_uc002tla.2_Silent_p.Q29Q|DPP10_uc021vnb.1_Non-coding_Transcript|DPP10_uc002tlb.2_5'UTR|DPP10_uc002tlc.2_Silent_p.Q25Q|DPP10_uc002tlf.2_Silent_p.Q22Q	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	29	Mediates effects on KCND2.				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.L32M(1)		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						GCCCTCCACAGAGAAACTGGA	0.393000														28			11		0	0	0.013537	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477426	110477426	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:110477426C>T	uc003yne.3	+	48	8469	c.8365C>T	c.(8365-8367)Cgc>Tgc	p.R2789C		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2789					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)			GGCTGGCTTTCGCTGGGAACA	0.393000										HNSCC(38;0.096)				47			31		0	0	0.003271	0	0
TC2N	123036	broad.mit.edu	37	14	92251698	92251698	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:92251698G>A	uc001xzu.4	-	10	1361	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	TC2N_uc001xzt.4_Silent_p.F390F|TC2N_uc010auc.3_Silent_p.F326F|TC2N_uc001xzv.4_Silent_p.F390F	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	390	C2.					nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CCACCTTCACGAAAAAACCTA	0.323000														103			84		0	0	0.014410	0	0
PALLD	23022	broad.mit.edu	37	4	169632817	169632817	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:169632817G>A	uc011cjx.2	+	9	1918	c.1707G>A	c.(1705-1707)ttG>ttA	p.L569L	PALLD_uc003iru.3_Silent_p.L569L|PALLD_uc003irv.3_Silent_p.L187L	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	569					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)		CTCCAATCTTGGAGACAAGTT	0.483000									Pancreatic Cancer, Familial Clustering of					37			18		0	0	0.004990	0	0
DCHS2	54798	broad.mit.edu	37	4	155241618	155241618	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:155241618C>T	uc003inw.2	-	13	3568	c.3568G>A	c.(3568-3570)Gat>Aat	p.D1190N		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1190	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		TCGTCTGGATCGTGAGCAGTT	0.453000														122			81		0	0	0.014410	0	0
FAM108A1	81926	broad.mit.edu	37	19	1881283	1881283	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:1881283G>A	uc002luf.3	-	1	689	c.283C>T	c.(283-285)Cgc>Tgc	p.R95C	FAM108A1_uc002lud.3_Missense_Mutation_p.R95C|FAM108A1_uc002lue.3_Missense_Mutation_p.R95C|FAM108A1_uc002lug.3_Missense_Mutation_p.R95C	NM_031213	NP_112490	Q96GS6	F18A1_HUMAN	Homo sapiens family with sequence similarity 108, member A1 (FAM108A1), transcript variant 1, mRNA.	95						extracellular region	hydrolase activity	p.R95H(1)		endometrium(2)|kidney(1)|lung(4)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(11;0.000137)		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)		CGGTTGCCGCGGGCGCTCTTG	0.682000														30			19		0	0	0.013726	0	0
OLAH	55301	broad.mit.edu	37	10	15107690	15107690	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:15107690G>A	uc001int.2	+	6	923	c.669G>A	c.(667-669)aaG>aaA	p.K223K	ACBD7_uc010qby.1_Intron|OLAH_uc001inu.2_Silent_p.K170K	NM_018324	NP_060794	Q9NV23	SAST_HUMAN	Homo sapiens oleoyl-ACP hydrolase (OLAH), transcript variant 1, mRNA.	170					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	p.K223E(1)		endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						CTGAAGCCAAGGAATTTGTGA	0.393000														36			8		0	0	0.006214	0	0
SLC5A12	159963	broad.mit.edu	37	11	26734223	26734223	+	Missense_Mutation	SNP	G	A	A	rs145373937		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:26734223G>A	uc001mra.2	-	1	683	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Missense_Mutation_p.R124C	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	124					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.R124C(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GCAGCATAGCGAACTGGTTTG	0.398000														127			92		0	0	0.014410	0	0
HGF	3082	broad.mit.edu	37	7	81388081	81388081	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:81388081C>T	uc003uhl.3	-	2	459	c.294G>A	c.(292-294)tgG>tgA	p.W98*	HGF_uc003uhm.3_Nonsense_Mutation_p.W98*|HGF_uc003uhn.1_Nonsense_Mutation_p.W98*|HGF_uc003uho.1_Nonsense_Mutation_p.W98*|HGF_uc003uhp.3_Nonsense_Mutation_p.W98*|HGF_uc022agw.1_Nonsense_Mutation_p.W98*	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	98	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.W98C(4)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TGAAGGGGAACCAGAGGCATT	0.323000														59			32		0	0	0.003271	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229665	140229665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140229665G>A	uc003lhu.2	+	0	2309	c.1585G>A	c.(1585-1587)Gag>Aag	p.E529K	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_uc003lht.1_Missense_Mutation_p.E529K	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	543	Cadherin 5.				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)			CGAGGAGCTGGAGCTGCTACA	0.677000														84			56		0	0	0.014410	0	0
NOM1	64434	broad.mit.edu	37	7	156746923	156746923	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:156746923C>T	uc003wmy.3	+	2	1254	c.1239C>T	c.(1237-1239)gcC>gcT	p.A413A		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	Homo sapiens nucleolar protein with MIF4G domain 1 (NOM1), mRNA.	413	MIF4G.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CTGCCTCGGCCATGCCCAGCA	0.547000														30			18		0	0	0.007413	0	0
CDH12	1010	broad.mit.edu	37	5	21755927	21755927	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:21755927C>T	uc010iuc.2	-	10	2116	c.1658G>A	c.(1657-1659)cGa>cAa	p.R553Q	CDH12_uc011cno.1_Missense_Mutation_p.R513Q|CDH12_uc003jgk.2_Missense_Mutation_p.R553Q|BC038535_uc003jgj.3_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	553	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCCATTTCTTCGGGTTTCAAT	0.428000										HNSCC(59;0.17)				39			27		0	0	0.010818	0	0
ADCY1	107	broad.mit.edu	37	7	45750231	45750231	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:45750231G>A	uc003tne.4	+	18	3055	c.3037G>A	c.(3037-3039)Ggg>Agg	p.G1013R		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	1013					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			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)	GGATAGCACAGGGGTCCAGGG	0.577000														22			17		0	0	0.004990	0	0
CREB3L1	90993	broad.mit.edu	37	11	46341910	46341910	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:46341910G>A	uc021qil.1	+	10	1789	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	CREB3L1_uc021qik.1_Missense_Mutation_p.E452K|CREB3L1_uc001ncg.3_Missense_Mutation_p.E86K	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 1 (CREB3L1), mRNA.	452					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		AGATGGCTGGGAAATCAACCC	0.652000			T	FUS	myxofibrosarcoma									12			4		0	0	0.001168	0	0
PVRL1	5818	broad.mit.edu	37	11	119549141	119549141	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:119549141G>A	uc001pwv.3	-	1	586	c.414C>T	c.(412-414)ctC>ctT	p.L138L	PVRL1_uc001pwu.1_Silent_p.L138L|PVRL1_uc001pww.3_Silent_p.L138L	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 1, mRNA.	138	Ig-like V-type.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCGTGAGATTGAGCTGGCTTT	0.612000														30			40		0	0	0.009718	0	0
KCNK2	3776	broad.mit.edu	37	1	215408400	215408400	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:215408400C>T	uc001hkq.3	+	6	1362	c.1193C>T	c.(1192-1194)cCc>cTc	p.P398L	KCNK2_uc001hko.3_Missense_Mutation_p.P394L|KCNK2_uc009xdm.3_Non-coding_Transcript|KCNK2_uc001hkp.3_Non-coding_Transcript|KCNK2_uc001hkr.4_Missense_Mutation_p.P383L	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	Homo sapiens potassium channel, subfamily K, member 2 (KCNK2), transcript variant 3, mRNA.	398	Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity).						outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	GTCTTGCCTCCCTTACTGAAG	0.498000														46			19		0	0	0.007413	0	0
INTU	27152	broad.mit.edu	37	4	128564862	128564862	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:128564862C>T	uc003ifk.2	+	1	436	c.333C>T	c.(331-333)ctC>ctT	p.L111L	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	111										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AACCCAAACTCAAGCAGTTTA	0.358000														57			35		0	0	0.012213	0	0
CCDC108	255101	broad.mit.edu	37	2	219895915	219895915	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:219895915G>A	uc002vjl.1	-	7	1012	c.928C>T	c.(928-930)Ctt>Ttt	p.L310F	CCDC108_uc010fwa.1_5'Flank|CCDC108_uc010zkp.1_Missense_Mutation_p.L299F|CCDC108_uc010zkq.1_Missense_Mutation_p.L245F	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	310						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACGGCTGTAAGGGGCTGAAAG	0.652000														21			5		0	0	0.001168	0	0
D21847	0	broad.mit.edu	37	14	22090685	22090685	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:22090685G>A	uc001wbi.2	+	1	337	c.324G>A	c.(322-324)atG>atA	p.M108I						Homo sapiens mRNA for T cell receptor alpha variable 1, partial cds, clone: SEB 133.																		AGCTCCAGATGAAAGACTCTG	0.458000														38			27		0	0	0.003954	0	0
PAFAH1B2	5049	broad.mit.edu	37	11	117034544	117034544	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:117034544G>C	uc001pqe.2	+	4	489	c.347G>C	c.(346-348)gGt>gCt	p.G116A	PAFAH1B2_uc021qqv.1_Missense_Mutation_p.G116A|PAFAH1B2_uc009yzn.3_Non-coding_Transcript|PAFAH1B2_uc009yzm.3_Non-coding_Transcript|PAFAH1B2_uc001pqf.3_Non-coding_Transcript|PAFAH1B2_uc009yzl.2_Missense_Mutation_p.G116A|PAFAH1B2_uc009yzk.2_Missense_Mutation_p.G116A	NM_002572	NP_002563	P68402	PA1B2_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa) (PAFAH1B2), transcript variant 1, mRNA.	116					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity			kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		GAAGTAGCAGGTGGGATCGAG	0.428000			T	IGH@	MLCLS									33			37		0	0	0.003271	0	0
LOC100133050	100133050	broad.mit.edu	37	5	99715528	99715528	+	RNA	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:99715528C>T	uc011cuw.1	-	3		c.382G>A								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		AGCGGACAGTCGAAGCCCTTC	0.607000														9			4		0	0	0.009096	0	0
GYS2	2998	broad.mit.edu	37	12	21727101	21727101	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:21727101C>T	uc001rfb.3	-	3	910	c.655G>A	c.(655-657)Gat>Aat	p.D219N		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	219					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTGTAGAAATCAATATTTGCT	0.408000														36			16		0	0	0.007413	0	0
PLSCR2	57047	broad.mit.edu	37	3	146167009	146167009	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:146167009C>T	uc021xfa.1	-	7	1288	c.848G>A	c.(847-849)gGt>gAt	p.G283D	PLSCR2_uc003evw.2_Missense_Mutation_p.G279D|PLSCR2_uc003evv.2_Missense_Mutation_p.G210D	NM_001199978	NP_001186907	Q9NRY7	PLS2_HUMAN	Homo sapiens phospholipid scramblase 2 (PLSCR2), transcript variant 1, mRNA.	210					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						GAAACAGGCACCAATCATCAC	0.373000														37			46		0	0	0.014410	0	0
EIF2B3	8891	broad.mit.edu	37	1	45363098	45363098	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:45363098G>A	uc001cmt.2	-	5	791	c.585C>T	c.(583-585)ttC>ttT	p.F195F	EIF2B3_uc001cmu.2_Silent_p.F195F|EIF2B3_uc001cmw.3_Silent_p.F195F	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa (EIF2B3), transcript variant 1, mRNA.	195					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					GACCCGTGTGGAAACGTATTC	0.383000														19			11		0	0	0.008291	0	0
VCAM1	7412	broad.mit.edu	37	1	101200150	101200150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:101200150C>T	uc001dti.3	+	7	2106	c.1885C>T	c.(1885-1887)Cca>Tca	p.P629S	VCAM1_uc010ouj.2_Missense_Mutation_p.P567S|VCAM1_uc001dtj.3_Missense_Mutation_p.P537S	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	629	Ig-like C2-type 7.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TGGAAATGTTCCAGAAACATG	0.408000														22			12		0	0	0.002450	0	0
SORL1	6653	broad.mit.edu	37	11	121425922	121425922	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:121425922G>A	uc001pxx.3	+	17	2595	c.2466G>A	c.(2464-2466)ggG>ggA	p.G822G		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	822					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GAAGCACAGGGCAAGAGGTGA	0.473000														41			50		0	0	0.014410	0	0
BCL6	604	broad.mit.edu	37	3	187442854	187442854	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:187442854G>A	uc003frp.3	-	8	2309	c.1852C>T	c.(1852-1854)Cgt>Tgt	p.R618C	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.R562C|BCL6_uc010hza.2_Missense_Mutation_p.R516C|BCL6_uc003frq.2_Missense_Mutation_p.R618C	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	618					negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		ACATGGGCACGGAGGTGGGCC	0.587000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""									60			14		0	0	0.003163	0	0
ABCF2	10061	broad.mit.edu	37	7	150912052	150912052	+	Silent	SNP	G	A	A	rs144967351	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:150912052G>A	uc003wjo.1	-	13	1758	c.1647C>T	c.(1645-1647)atC>atT	p.I549I	ABCF2_uc003wjp.3_Silent_p.I549I	NM_005692	NP_005683	Q9UG63	ABCF2_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 2 (ABCF2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	549	ABC transporter 2.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGATGGTCTCGATATCCAGGT	0.572000														37			20		0	0	0.010504	0	0
MUC15	143662	broad.mit.edu	37	11	26582726	26582726	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:26582726C>T	uc001mqw.3	-	4	1245	c.972G>A	c.(970-972)ggG>ggA	p.G324G	ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Silent_p.G297G|MUC15_uc001mqy.3_Silent_p.G274G	NM_001135091	NP_663625	Q8N387	MUC15_HUMAN	Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA.	297						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						AGCTAGAATTCCCAAAACTCA	0.383000														21			18		0	0	0.007413	0	0
MMP27	64066	broad.mit.edu	37	11	102575304	102575304	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:102575304G>A	uc001phd.1	-	1	328	c.305C>T	c.(304-306)aCc>aTc	p.T102I		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	102					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CCCAGGGAGGGTGTAGCCATA	0.468000														34			34		0	0	0.012213	0	0
LIN28B	389421	broad.mit.edu	37	6	105526438	105526438	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:105526438G>A	uc003pqv.1	+	3	736	c.533G>A	c.(532-534)gGa>gAa	p.G178E	LIN28B_uc010kda.1_3'UTR	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN	Homo sapiens lin-28 homolog B (C. elegans) (LIN28B), mRNA.	178					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	p.Q177H(1)		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)				AGTTCTCAGGGAAGACAGGAA	0.547000														40			13		0	0	0.013537	0	0
PTH2R	5746	broad.mit.edu	37	2	209345797	209345797	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:209345797G>A	uc010zjb.2	+	9	1303	c.1017G>A	c.(1015-1017)ctG>ctA	p.L339L	PTH2R_uc002vdb.3_Silent_p.L328L	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	328						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TTTTTCAGCTGAATTTTATTC	0.303000														14			11		0	0	0.010729	0	0
ZNF812	729648	broad.mit.edu	37	19	9801330	9801330	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9801330C>T	uc021uop.1	-	5	1495	c.849G>A	c.(847-849)ggG>ggA	p.G283G	ZNF812_uc010xkx.2_Silent_p.G179G	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGAAGGCTTTCCCACATTCCG	0.378000														54			26		0	0	0.004656	0	0
HBE1	3046	broad.mit.edu	37	11	5290736	5290736	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:5290736T>C	uc001mal.1	-	1	529	c.263A>G	c.(262-264)aAg>aGg	p.K88R	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.K88R	NM_005330	NP_005321	P02100	HBE_HUMAN	Homo sapiens hemoglobin, epsilon 1 (HBE1), mRNA.	88					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCACTCAGCTTAGCAAAGGC	0.478000														71			48		0	0	0.014410	0	0
ASS1	445	broad.mit.edu	37	9	133346888	133346888	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:133346888C>T	uc010mza.3	+	8	1319	c.811C>T	c.(811-813)Ctg>Ttg	p.L271L	ASS1_uc004bzm.3_Silent_p.L195L|ASS1_uc004bzn.3_Silent_p.L195L	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	195					arginine biosynthetic process|urea cycle	cytosol	ATP binding|argininosuccinate synthase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GGCTGGAATCCTGGAGAACCC	0.582000														14			19		0	0	0.012319	0	0
OR52A5	390054	broad.mit.edu	37	11	5153532	5153532	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:5153532G>A	uc010qyx.2	-	0	341	c.341C>T	c.(340-342)tCg>tTg	p.S114L		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAGGATACCCGATTCAATTGC	0.443000														23			14		0	0	0.001855	0	0
IHH	3549	broad.mit.edu	37	2	219920581	219920581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:219920581G>A	uc002vjo.2	-	2	633	c.584C>T	c.(583-585)tCg>tTg	p.S195L		NM_002181	NP_002172	Q14623	IHH_HUMAN	Homo sapiens Indian hedgehog (IHH), mRNA.	195					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTGCGGCCGAGTGCTCTGT	0.667000														10			8		0	0	0.004482	0	0
TRANK1	9881	broad.mit.edu	37	3	36875022	36875022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:36875022C>T	uc003cgj.3	-	20	6168	c.5920G>A	c.(5920-5922)Gat>Aat	p.D1974N		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1974					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						TAGCAGATATCAAGTGCTTCT	0.542000														29			12		0	0	0.002450	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68221863	68221863	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:68221863G>A	uc001xka.2	-	36	7030	c.6891C>T	c.(6889-6891)gaC>gaT	p.D2297D	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkb.3_Silent_p.D143D	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	2297					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCTTCAGGTGGTCCTTGGCCT	0.478000														59			48		0	0	0.014410	0	0
MYH15	22989	broad.mit.edu	37	3	108178230	108178230	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:108178230G>A	uc003dxa.1	-	18	2116	c.2059C>T	c.(2059-2061)Ccc>Tcc	p.P687S		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	687	Actin-binding (By similarity).|Myosin head-like.					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						TTCACATTGGGATTTATGCAT	0.289000														21			21		0	0	0.003330	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951596	119951596	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:119951596G>A	uc010inb.3	+	3	1862	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K	SYNPO2_uc010ina.3_Missense_Mutation_p.E556K|SYNPO2_uc003icm.4_Missense_Mutation_p.E556K|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.E484K|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	556						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						AAGCTACATCGAGGTGAGTCA	0.517000														54			20		0	0	0.012319	0	0
FAM161B	145483	broad.mit.edu	37	14	74411260	74411260	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:74411260C>T	uc001xpd.2	-	2	1091	c.703G>A	c.(703-705)Gag>Aag	p.E235K		NM_152445	NP_689658			Homo sapiens family with sequence similarity 161, member B (FAM161B), mRNA.									p.M234V(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						TCGCTGCGCTCCATGATCTCT	0.612000														40			26		0	0	0.006320	0	0
SLC11A1	6556	broad.mit.edu	37	2	219254628	219254628	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:219254628C>T	uc002vhv.3	+	8	1171	c.831C>T	c.(829-831)atC>atT	p.I277I	SLC11A1_uc010fvp.1_Silent_p.I277I|SLC11A1_uc010fvq.1_Silent_p.I210I|SLC11A1_uc010zkc.1_Silent_p.I210I|SLC11A1_uc002vhu.1_Silent_p.I72I|SLC11A1_uc002vhw.3_Silent_p.I159I|SLC11A1_uc010fvr.3_Silent_p.I72I	NM_000578	NP_000569	P49279	NRAM1_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.	277					L-arginine import|MHC class II biosynthetic process|T cell cytokine production|T cell proliferation involved in immune response|activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|mRNA stabilization|macrophage activation|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGCAGACATCAGAGAAGCCA	0.557000														27			9		0	0	0.004482	0	0
ZDHHC18	84243	broad.mit.edu	37	1	27177626	27177626	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:27177626G>A	uc001bnb.3	+	5	935	c.840G>A	c.(838-840)ctG>ctA	p.L280L	BC016143_uc021ojq.1_Intron	NM_032283	NP_115659	Q9NUE0	ZDH18_HUMAN	Homo sapiens zinc finger, DHHC-type containing 18 (ZDHHC18), mRNA.	280						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		TCACCGTGCTGGAGTTGGTGA	0.562000														59			36		0	0	0.004878	0	0
AHDC1	27245	broad.mit.edu	37	1	27878454	27878454	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:27878454G>A	uc021ojw.1	-	0	173	c.173C>T	c.(172-174)tCc>tTc	p.S58F	AHDC1_uc009vsy.3_Missense_Mutation_p.S58F|AHDC1_uc009vsz.1_Missense_Mutation_p.S58F|AHDC1_uc001boh.1_Intron	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	58	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGGGTTCTCGGAGAAGGCGTG	0.756000														15			8		0	0	0.003080	0	0
TEX15	56154	broad.mit.edu	37	8	30700975	30700975	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:30700975G>A	uc003xil.3	-	0	5559	c.5559C>T	c.(5557-5559)gaC>gaT	p.D1853D		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1853										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TCCACAGATGGTCCTGTTTTC	0.343000														66			43		0	0	0.010771	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073189	17073189	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:17073189G>T	uc002zlp.1	-	0	512	c.252C>A	c.(250-252)caC>caA	p.H84Q		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	84					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ATGCTGCTGGGTGCTCCAGCT	0.622000														42			19		2.94398e-08	3.25187e-08	0.007413	1	0
C1orf106	55765	broad.mit.edu	37	1	200881005	200881005	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:200881005G>A	uc001gvo.3	+	8	1681	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	C1orf106_uc010ppm.2_Missense_Mutation_p.E462K	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	547										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CCCTGCTTACGAGGAGGAGGG	0.746000														8			5		0	0	0.001984	0	0
ALS2	57679	broad.mit.edu	37	2	202632042	202632042	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:202632042G>A	uc002uyo.3	-	2	441	c.85C>T	c.(85-87)Ccc>Tcc	p.P29S	ALS2_uc002uyp.4_Missense_Mutation_p.P29S|ALS2_uc002uyq.3_Missense_Mutation_p.P29S|ALS2_uc002uyr.3_Missense_Mutation_p.P29S	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	29					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity	p.P29P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GGTGTTATGGGAAAGGATCCT	0.468000														23			12		0	0	0.001855	0	0
UNC13C	440279	broad.mit.edu	37	15	54707217	54707217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:54707217G>A	uc021smr.1	+	16	4879	c.4879G>A	c.(4879-4881)Gaa>Aaa	p.E1627K	UNC13C_uc021sms.1_Missense_Mutation_p.E1629K|UNC13C_uc002acl.3_Missense_Mutation_p.E459K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1629					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)		AATAAGTGCCGAAATTATGTG	0.308000														31			27		0	0	0.007291	0	0
COL6A3	1293	broad.mit.edu	37	2	238259801	238259801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:238259801C>T	uc002vwl.2	-	26	7073	c.6788G>A	c.(6787-6789)cGa>cAa	p.R2263Q	COL6A3_uc002vwo.2_Missense_Mutation_p.R2057Q|COL6A3_uc010znj.1_Missense_Mutation_p.R1656Q|COL6A3_uc002vwp.1_Missense_Mutation_p.R84Q	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2263	Collagen-like 4.|Triple-helical 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)		GGTTCTGCCTCGTTCTCCAGG	0.567000														33			28		0	0	0.010818	0	0
ZNF568	374900	broad.mit.edu	37	19	37441389	37441389	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:37441389C>T	uc002ofc.3	+	6	1852	c.1334C>T	c.(1333-1335)cCc>cTc	p.P445L	ZNF568_uc010efg.3_Intron|ZNF568_uc010xtn.2_Intron|ZNF568_uc021uts.1_Missense_Mutation_p.P444L|ZNF568_uc002ofd.3_Missense_Mutation_p.P381L|ZNF568_uc010efe.3_Missense_Mutation_p.P381L|ZNF568_uc010eff.2_Intron	NM_198539	NP_001191766	Q3ZCX4	ZN568_HUMAN	Homo sapiens zinc finger protein 568 (ZNF568), transcript variant 1, mRNA.	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCTGAGAAACCCTATGAATGT	0.408000														52			37		0	0	0.005524	0	0
TAF3	83860	broad.mit.edu	37	10	7866325	7866325	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:7866325C>T	uc010qbd.2	+	1	211	c.211C>T	c.(211-213)Cag>Tag	p.Q71*		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	71					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	p.Q71*(2)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TGAAGCTTTCCAGCTGATGGG	0.393000														77			22		0	0	0.003330	0	0
NEBL	10529	broad.mit.edu	37	10	21097555	21097555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:21097555C>T	uc001iqi.3	-	25	3042	c.2645G>A	c.(2644-2646)cGa>cAa	p.R882Q	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.	882	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GGAATGGGATCGAGACCAGTG	0.423000														91			43		0	0	0.014410	0	0
CSMD2	114784	broad.mit.edu	37	1	34087838	34087838	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:34087838G>A	uc001bxm.1	-	36	5933	c.5756C>T	c.(5755-5757)tCc>tTc	p.S1919F	CSMD2_uc001bxn.1_Missense_Mutation_p.S1879F|CSMD2_uc001bxo.1_Missense_Mutation_p.S792F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1879	Sushi 11.					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)				GAGCTGGTTGGAGGTGCTGTT	0.517000														72			37		0	0	0.004289	0	0
SKA1	220134	broad.mit.edu	37	18	47911610	47911610	+	Silent	SNP	T	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:47911610T>G	uc002let.3	+	4	520	c.336T>G	c.(334-336)ccT>ccG	p.P112P	SKA1_uc002leu.3_Silent_p.P112P|SKA1_uc010xdl.2_Intron	NM_145060	NP_659497	Q96BD8	SKA1_HUMAN	Homo sapiens spindle and kinetochore associated complex subunit 1 (SKA1), transcript variant 2, mRNA.	112					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						ATCTTGATCCTGAAGAACCAA	0.373000														100			30		0	0	0.010818	0	0
PPP1CB	5500	broad.mit.edu	37	2	29001786	29001786	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:29001786C>T	uc002rmg.3	+	3	456	c.296C>T	c.(295-297)tCt>tTt	p.S99F	PPP1CB_uc010ymj.2_Missense_Mutation_p.S71F|PPP1CB_uc010ymk.2_Missense_Mutation_p.S71F|PPP1CB_uc010yml.2_Missense_Mutation_p.S71F|PPP1CB_uc002rmh.3_Missense_Mutation_p.S99F	NM_206876	NP_996759	P62140	PP1B_HUMAN	Homo sapiens protein phosphatase 1, catalytic subunit, beta isozyme (PPP1CB), transcript variant 3, mRNA.	99					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|PTW/PP1 phosphatase complex|nucleolus	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					GGAAAGCAGTCTTTGGAAACC	0.368000														29			31		0	0	0.009535	0	0
TLR9	54106	broad.mit.edu	37	3	52256018	52256018	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:52256018C>T	uc003ddb.3	-	4	2815	c.2605G>A	c.(2605-2607)Gac>Aac	p.D869N	TLR9_uc003dda.2_Missense_Mutation_p.D772N	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	772	TIR.				I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|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 biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	AGCAGGAAGTCCATAAAGGCC	0.642000														32			18		0	0	0.007413	0	0
ZNF761	388561	broad.mit.edu	37	19	53958194	53958194	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:53958194C>T	uc010eqp.3	+	6	891	c.433C>T	c.(433-435)Cat>Tat	p.H145Y	ZNF761_uc010ydy.2_Missense_Mutation_p.H91Y|ZNF761_uc002qbt.2_Missense_Mutation_p.H91Y	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATCAAGCTTTCATTCGCATCT	0.388000														65			41		0	0	0.008740	0	0
GPX6	257202	broad.mit.edu	37	6	28472197	28472197	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:28472197G>A	uc021yrx.1	-	4	588	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	180					response to oxidative stress	extracellular region	glutathione peroxidase activity	p.R180P(1)		NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	AAGTTCCAGCGGATATCATGG	0.522000														56			24		0	0	0.014323	0	0
CDH4	1002	broad.mit.edu	37	20	60427927	60427927	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:60427927G>A	uc002ybn.2	+	5	938	c.850G>A	c.(850-852)Ggc>Agc	p.G284S	CDH4_uc002ybr.2_Missense_Mutation_p.G247S|CDH4_uc002ybp.2_Missense_Mutation_p.G210S	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	284	Cadherin 2.			G -> C (in Ref. 1; AAA35627).	adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGTCTACAACGGCTCCGTGGA	0.587000														100			56		0	0	0.014410	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974679	21974680	+	Nonsense_Mutation	DNP	GG	AT	AT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:21974679_21974680GG>AT	uc003zpk.3	-	0	453_454	c.147_148CC>AT	c.(145-150)atccag>atATag	p.Q50*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_Nonsense_Mutation_p.Q50*|CDKN2A_uc010miu.3_Nonsense_Mutation_p.Q50*|CDKN2A_uc003zpl.3_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	50			Q -> R (in CMM2).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(25)|p.Q50*(11)|p.I49M(3)|p.V28_V51del(2)|p.I49I(2)|p.I49T(1)|p.0(1)|p.I49S(1)|p.Q50R(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CTACCCACCTGGATCGGCCTCC	0.678000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				116			150		0	0	0.004672	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110406674	110406674	+	Silent	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:110406674T>C	uc003yne.3	+	9	875	c.771T>C	c.(769-771)gtT>gtC	p.V257V		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	257					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)			CATATTTTGTTTCTTCTCTCA	0.318000										HNSCC(38;0.096)				2			4		0	0	0.000602	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174320	207174320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:207174320C>T	uc002vbp.2	+	4	5318	c.5068C>T	c.(5068-5070)Cgg>Tgg	p.R1690W		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1690							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGCCAGTCTTCGGAAGGATCC	0.458000														41			12		0	0	0.010729	0	0
EZH2	2146	broad.mit.edu	37	7	148524336	148524337	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:148524336_148524337CC>TT	uc003wfd.2	-	6	840_841	c.647_648GG>AA	c.(646-648)cgg>cAA	p.R216Q	EZH2_uc022aov.1_Missense_Mutation_p.R177Q|EZH2_uc011kug.2_Missense_Mutation_p.R207Q|EZH2_uc003wfb.2_Missense_Mutation_p.R216Q|EZH2_uc003wfc.2_Missense_Mutation_p.R177Q|EZH2_uc011kuh.2_Missense_Mutation_p.R207Q|EZH2_uc011kui.2_Missense_Mutation_p.R216Q|EZH2_uc011kuj.2_Non-coding_Transcript	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	216	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			AAGGAAATTTCCGAGGTGGGCG	0.342000			Mis		DLBCL									100			52		0	0	0.004672	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52149074	52149074	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:52149074G>A	uc002pxf.4	-	2	781	c.661C>T	c.(661-663)Cag>Tag	p.Q221*		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA.	221	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GTGGTCACCTGAGCTCCTTGG	0.642000														44			19		0	0	0.003954	0	0
SULT1C3	442038	broad.mit.edu	37	2	108875273	108875273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:108875273G>A	uc010ywo.2	+	4	610	c.610G>A	c.(610-612)Gat>Aat	p.D204N		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	204						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CTTCTACGAGGATATTAAAAA	0.453000														48			11		0	0	0.008291	0	0
MXRA5	25878	broad.mit.edu	37	X	3229630	3229630	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:3229630G>A	uc004crg.4	-	6	6771	c.6614C>T	c.(6613-6615)aCc>aTc	p.T2205I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2205	Ig-like C2-type 6.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CACCACCAGGGTCCCATTGGC	0.448000														8			41		0	0	0.007835	0	0
LRRC37A2	474170	broad.mit.edu	37	17	44626399	44626399	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:44626399C>T	uc002ikn.1	+	8	3897	c.3894C>T	c.(3892-3894)atC>atT	p.I1298I	ARL17A_uc002iko.4_Intron|LRRC37A2_uc002ikq.1_Silent_p.I259I|LRRC37A2_uc010dax.2_Silent_p.I228I	NM_001006607	NP_001006608	A6NM11	L37A2_HUMAN	Homo sapiens leucine rich repeat containing 37, member A2 (LRRC37A2), mRNA.	1298						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CTAAACCAATCGTACATGCCA	0.418000														179			37		0	0	0.014410	0	0
NT5C3	51251	broad.mit.edu	37	7	33102262	33102262	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:33102262G>A	uc003tdk.3	-	0	148	c.71C>T	c.(70-72)gCc>gTc	p.A24V	NT5C3_uc003tdj.3_5'UTR|DQ584906_uc022abp.1_5'Flank	NM_001002010	NP_001159590	Q9H0P0	5NT3_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic III (NT5C3), transcript variant 1, mRNA.	24					nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol|endoplasmic reticulum	2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14			GBM - Glioblastoma multiforme(11;0.0894)			CGCCACCAGGGCGCACACGCT	0.652000														5			5		0	0	0.000602	0	0
LRRN4	164312	broad.mit.edu	37	20	6022042	6022042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:6022042C>T	uc002wmo.2	-	4	2073	c.1849G>A	c.(1849-1851)Gag>Aag	p.E617K		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	Homo sapiens leucine rich repeat neuronal 4 (LRRN4), mRNA.	617	Fibronectin type-III.					integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GCCCAGCCCTCCGCAGAGTAG	0.692000														39			11		0	0	0.001855	0	0
KBTBD2	25948	broad.mit.edu	37	7	32909368	32909368	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:32909368G>A	uc003tdb.2	-	3	2120	c.1461C>T	c.(1459-1461)ctC>ctT	p.L487L	AVL9_uc011kai.2_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 2 (KBTBD2), mRNA.	487										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TGCCAGAGGGGAGTCTTATGC	0.423000														70			43		0	0	0.014410	0	0
PKP4	8502	broad.mit.edu	37	2	159499059	159499059	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:159499059T>C	uc002tzv.3	+	10	2017	c.1757T>C	c.(1756-1758)gTt>gCt	p.V586A	PKP4_uc002tzt.1_Missense_Mutation_p.V438A|PKP4_uc002tzu.3_Missense_Mutation_p.V586A|PKP4_uc002tzw.3_Missense_Mutation_p.V586A|PKP4_uc002tzx.3_Missense_Mutation_p.V243A|PKP4_uc002tzy.1_Missense_Mutation_p.V244A|PKP4_uc002tzz.1_Missense_Mutation_p.V584A|PKP4_uc002uaa.3_Missense_Mutation_p.V438A	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	586					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GTTTTGGAAGTTCAGAAGAAT	0.423000										HNSCC(62;0.18)				58			46		0	0	0.014410	0	0
CXCL5	6374	broad.mit.edu	37	4	74863790	74863790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:74863790C>T	uc003hhk.3	-	2	383	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_002994	NP_002985	P42830	CXCL5_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 5 (CXCL5), mRNA.	89					cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction	extracellular space	chemokine activity	p.E89K(2)		endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			AGACAAATTTCCTTCCCGTTC	0.423000														79			44		0	0	0.014410	0	0
OBSCN	84033	broad.mit.edu	37	1	228559474	228559474	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:228559474G>A	uc009xez.1	+	93	21039	c.20995G>A	c.(20995-20997)Ggg>Agg	p.G6999R	OBSCN_uc001hsr.1_Missense_Mutation_p.G1628R	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6999	Pro-rich.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGGGACATGGGGCACCCTCA	0.701000														29			22		0	0	0.004656	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156629446	156629446	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:156629446G>A	uc003iov.3	+	6	912	c.376_splice	c.e6+1	p.G126_splice	GUCY1A3_uc003iou.2_Splice_Site_p.G126_splice|GUCY1A3_uc010iqc.2_Splice_Site_p.G126_splice|GUCY1A3_uc010iqd.3_Splice_Site_p.V126_splice|GUCY1A3_uc003iow.3_Splice_Site_p.G126_splice|GUCY1A3_uc003iox.3_Splice_Site_p.G126_splice|GUCY1A3_uc010iqe.3_Splice_Site|GUCY1A3_uc003ioy.3_Splice_Site_p.G126_splice|GUCY1A3_uc003ioz.3_Splice_Site|GUCY1A3_uc003ipa.3_Splice_Site|GUCY1A3_uc003ipb.3_Splice_Site_p.G126_splice	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	126				AAGV -> QQS (in Ref. 1; CAA47145).	blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AGTTGCAGCAGGTAATAGAAT	0.294000														59			21		0	0	0.004656	0	0
DMPK	1760	broad.mit.edu	37	19	46280937	46280937	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:46280937G>A	uc002pdi.1	-	7	1134	c.948C>T	c.(946-948)atC>atT	p.I316I	DMPK_uc010xxs.1_Silent_p.I201I|DMPK_uc002pdd.1_Silent_p.I300I|DMPK_uc002pde.1_Silent_p.I300I|DMPK_uc002pdg.1_Silent_p.I290I|DMPK_uc002pdf.1_Silent_p.I290I|DMPK_uc002pdh.1_Silent_p.I290I|DMPK_uc010xxt.1_Silent_p.I290I	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	300	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TGTAGTGGACGATCTTGCCAT	0.617000														99			58		0	0	0.014410	0	0
PF4	5196	broad.mit.edu	37	4	74847172	74847172	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:74847172C>T	uc003hhi.2	-	1	225	c.180G>A	c.(178-180)gtG>gtA	p.V60V		NM_002619	NP_002610	P02776	PLF4_HUMAN	Homo sapiens platelet factor 4 (PF4), mRNA.	60					cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of MHC class II biosynthetic process|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production	extracellular space|platelet alpha granule lumen	chemokine activity|heparin binding			kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	CGGCCTTGATCACCTCCAGGC	0.622000														40			8		0	0	0.006214	0	0
C12orf56	115749	broad.mit.edu	37	12	64668746	64668746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:64668746C>T	uc021qzu.1	-	10	1519	c.1519G>A	c.(1519-1521)Gga>Aga	p.G507R	BC042855_uc001srx.3_Intron|C12orf56_uc001ssa.4_Missense_Mutation_p.G347R|C12orf56_uc001srz.3_5'UTR|C12orf56_uc001sry.3_Missense_Mutation_p.G89R	NM_001170633	NP_001164104	Q8IXR9	CL056_HUMAN	Homo sapiens chromosome 12 open reading frame 56 (C12orf56), transcript variant 1, mRNA.	510										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		GATCCCAATCCGAGATTTCCC	0.343000														67			30		0	0	0.008361	0	0
SPEM1	374768	broad.mit.edu	37	17	7323961	7323961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:7323961C>T	uc002ggv.3	+	1	185	c.160C>T	c.(160-162)Cgt>Tgt	p.R54C	SPEM1_uc010vtw.1_5'UTR	NM_199339	NP_955371	Q8N4L4	SPEM1_HUMAN	Homo sapiens spermatid maturation 1 (SPEM1), mRNA.	54					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)				GAGCCGATTCCGTGGTGTCTT	0.582000														28			33		0	0	0.012213	0	0
PGR	5241	broad.mit.edu	37	11	100999743	100999743	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:100999743G>A	uc001pgh.2	-	0	802	c.59C>T	c.(58-60)tCc>tTc	p.S20F	PGR_uc001pgi.2_Missense_Mutation_p.S20F|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript|FJ515873_uc010rum.2_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	20	Modulating, Pro-Rich.				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)	GACCTCGGGGGAGGGCGGGCC	0.677000														4			10		0	0	0.006214	0	0
FKBP9L	360132	broad.mit.edu	37	7	55759072	55759072	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:55759072C>T	uc010kzl.3	-	2	310	c.210G>A	c.(208-210)aaG>aaA	p.K70K	FKBP9L_uc003tqt.3_5'Flank|FKBP9L_uc011kcs.2_5'Flank					Homo sapiens FK506 binding protein 9-like (FKBP9L), transcript variant 4, non-coding RNA.											endometrium(1)|kidney(1)|lung(3)	5						AATCTCCCTTCTTACTCAGCA	0.522000														29			23		0	0	0.012319	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485261	97485261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:97485261G>A	uc001vmw.3	+	1	1249	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	409						integral to membrane	sulfotransferase activity	p.E409D(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					GCAGCTTTACGAGTATGCAAA	0.572000														45			44		0	0	0.008740	0	0
FSCN1	6624	broad.mit.edu	37	7	5642949	5642949	+	Silent	SNP	C	T	T	rs147410388		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:5642949C>T	uc003sou.3	+	1	1026	c.894C>T	c.(892-894)atC>atT	p.I298I	FSCN1_uc003sov.3_Silent_p.I20I	NM_003088	NP_003079	Q16658	FSCN1_HUMAN	Homo sapiens fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) (FSCN1), mRNA.	298					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging	p.I298I(2)		central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		AGCTGGAGATCGACCGCGACA	0.637000														46			21		0	0	0.014323	0	0
GTF3C1	2975	broad.mit.edu	37	16	27495610	27495610	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:27495610G>A	uc002dov.2	-	24	3963	c.3923C>T	c.(3922-3924)tCt>tTt	p.S1308F	GTF3C1_uc002dou.3_Missense_Mutation_p.S1308F	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1308						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTTATCCAAAGACTCTTCAAA	0.468000														37			29		0	0	0.007291	0	0
MPP6	51678	broad.mit.edu	37	7	24703301	24703301	+	Silent	SNP	T	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:24703301T>A	uc003swx.3	+	6	1043	c.744T>A	c.(742-744)atT>atA	p.I248I	MPP6_uc003swy.3_Silent_p.I248I	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	248	SH3.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						AAGGAGAGATTCTTCAGATTG	0.338000														54			36		0	0	0.004878	0	0
PAK7	57144	broad.mit.edu	37	20	9523338	9523338	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:9523338C>T	uc002wnl.2	-	9	2444	c.1899G>A	c.(1897-1899)gtG>gtA	p.V633V	PAK7_uc002wnk.2_Silent_p.V633V|PAK7_uc002wnj.2_Silent_p.V633V|PAK7_uc010gby.1_Intron	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	633	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)			TCATTTCTATCACCATGATCC	0.527000														77			64		0	0	0.014410	0	0
DIDO1	11083	broad.mit.edu	37	20	61511764	61511764	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:61511764G>A	uc002ydr.2	-	15	5856	c.5544C>T	c.(5542-5544)ccC>ccT	p.P1848P	DIDO1_uc002yds.2_Silent_p.P1848P	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1848	Pro-rich.				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)					TCTCCCCATGGGGATCCTTGC	0.602000														72			42		0	0	0.008740	0	0
FAT3	120114	broad.mit.edu	37	11	92533956	92533956	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:92533956G>A	uc001pdj.4	+	8	7794	c.7777G>A	c.(7777-7779)Gaa>Aaa	p.E2593K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2593	Cadherin 23.				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)				TGTTGTGGATGAAAATGACAA	0.483000										TCGA Ovarian(4;0.039)				162			242		0	0	0.014410	0	0
CFH	3075	broad.mit.edu	37	1	196654220	196654220	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:196654220C>A	uc001gtj.4	+	6	1057	c.817C>A	c.(817-819)Cca>Aca	p.P273T	CFH_uc001gti.4_Missense_Mutation_p.P273T|CFH_uc009wyw.3_Missense_Mutation_p.P273T|CFH_uc009wyx.3_Missense_Mutation_p.P209T	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	273	Sushi 5.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TCCTTATATTCCAAATGGTGA	0.313000														93			15		6.31663e-08	6.97081e-08	0.003163	1	0
ZNF880	400713	broad.mit.edu	37	19	52887533	52887533	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:52887533C>T	uc002pzc.3	+	3	749	c.700C>T	c.(700-702)Cat>Tat	p.H234Y	ZNF880_uc021uyu.1_Missense_Mutation_p.H234Y|ZNF880_uc021uyv.1_5'Flank	NM_001145434	NP_001138906	Q6PDB4	ZN880_HUMAN	Homo sapiens zinc finger protein 880 (ZNF880), mRNA.	234					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TCAAAGAATTCATACTGGAGA	0.388000														11			8		0	0	0.006214	0	0
OR5B2	390190	broad.mit.edu	37	11	58190091	58190091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:58190091G>A	uc010rkg.2	-	0	696	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S215F(2)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAACAAGTAGGAGATAAAGAT	0.403000														18			14		0	0	0.002450	0	0
MTR	4548	broad.mit.edu	37	1	236973878	236973878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:236973878C>T	uc001hyi.4	+	4	908	c.485C>T	c.(484-486)cCg>cTg	p.P162L	MTR_uc010pxv.1_Non-coding_Transcript|MTR_uc010pxw.2_5'UTR|MTR_uc010pxx.2_Missense_Mutation_p.P162L|MTR_uc010pxy.2_Missense_Mutation_p.P162L|MTR_uc009xgj.1_5'UTR	NM_000254	NP_000245	Q99707	METH_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA.	162	Hcy-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GTGGAAAGGCCGGATTATAGG	0.423000														101			43		0	0	0.009718	0	0
ABT1	29777	broad.mit.edu	37	6	26598587	26598588	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:26598587_26598588CC>TT	uc003nii.3	+	2	573_574	c.533_534CC>TT	c.(532-534)gcc>gTT	p.A178V		NM_013375	NP_037507	Q9ULW3	ABT1_HUMAN	Homo sapiens activator of basal transcription 1 (ABT1), mRNA.	178					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|RNA binding|nucleotide binding|protein binding|transcription coactivator activity	p.A178G(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						GTTGCTCAAGCCAAGCGTGAGA	0.604000														42			35		0	0	0.004672	0	0
SYCP2L	221711	broad.mit.edu	37	6	10930683	10930683	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:10930683G>A	uc003mzo.3	+	18	1865	c.1569G>A	c.(1567-1569)caG>caA	p.Q523Q	SYCP2L_uc011din.1_3'UTR|SYCP2L_uc010jow.3_Silent_p.Q143Q	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	523						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CCAGTAACCAGAAAAAGAAAT	0.348000														32			24		0	0	0.003330	0	0
OR14J1	442191	broad.mit.edu	37	6	29275193	29275193	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:29275193C>T	uc011dln.2	+	0	727	c.727C>T	c.(727-729)Cta>Tta	p.L243L		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						CCTACCACACCTATTTGTAGC	0.493000														106			58		0	0	0.014410	0	0
DUSP27	92235	broad.mit.edu	37	1	167096871	167096871	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:167096871G>A	uc001geb.1	+	4	2519	c.2503G>A	c.(2503-2505)Gaa>Aaa	p.E835K		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	835					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						GGACCTAAAGGAACTTGGCCG	0.522000														56			17		0	0	0.004990	0	0
THBS4	7060	broad.mit.edu	37	5	79357628	79357628	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:79357628G>A	uc021yaw.1	+	7	1289	c.1098G>A	c.(1096-1098)ggG>ggA	p.G366G		NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	366	EGF-like 2; calcium-binding (Potential).				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)		AGGGTGTTGGGATCAGTTTTG	0.507000														26			18		0	0	0.004990	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938798	2938798	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:2938798A>C	uc001ajz.3	+	0	753	c.548A>C	c.(547-549)cAc>cCc	p.H183P		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	183						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)		ACCAAGCTCCACGTGGCGGGC	0.657000														32			18		0	0	0.007413	0	0
CDH24	64403	broad.mit.edu	37	14	23524545	23524545	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:23524545G>A	uc001wil.3	-	2	479	c.219C>T	c.(217-219)gaC>gaT	p.D73D	CDH24_uc010akf.3_Silent_p.D73D|CDH24_uc001win.3_Silent_p.D73D	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	73	Cadherin 1.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCTCTCCCCGGTCAACATCCG	0.557000											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		34			15		0	0	0.004007	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	95492	95492	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrGL000209.1:95492C>T	uc002quk.1	+	7	933	c.878C>T	c.(877-879)cCt>cTt	p.P293L	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_5'Flank	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	293							receptor activity										GATCAAGACCCTCAGGAGGTG	0.493000														92			36		0	0	0.009718	0	0
FAM213A	84293	broad.mit.edu	37	10	82185750	82185750	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:82185750C>T	uc021pux.1	+	3	529	c.399C>T	c.(397-399)ttC>ttT	p.F133F	FAM213A_uc001kcc.4_Silent_p.F133F|FAM213A_uc001kcd.4_Silent_p.F122F|FAM213A_uc001kcf.4_Silent_p.F133F|FAM213A_uc001kce.4_Silent_p.F133F|FAM213A_uc021puy.1_Silent_p.F129F	NM_001243779	NP_001230708	Q9BRX8	CJ058_HUMAN	Homo sapiens chromosome 10 open reading frame 58 (C10orf58), transcript variant 3, mRNA.	133						extracellular region											GAGAAATCTTCCTGGATGAAA	0.512000														70			17		0	0	0.008871	0	0
NDUFB9	4715	broad.mit.edu	37	8	125551344	125551344	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:125551344C>T	uc011lim.1	+	1	1	c.-84_splice	c.e1-1		TATDN1_uc003yre.2_5'Flank|TATDN1_uc003yrd.2_5'Flank|TATDN1_uc010mdm.2_5'Flank|NDUFB9_uc003yrg.4_Splice_Site	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa (NDUFB9), nuclear gene encoding mitochondrial protein, mRNA.						mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.?(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	GCAACTCCGCCCTTCCGGCTG	0.662000														26			16		0	0	0.004990	0	0
C14orf49	161176	broad.mit.edu	37	14	95912270	95912270	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:95912270G>A	uc001yei.4	-	7	1623	c.1608C>T	c.(1606-1608)ctC>ctT	p.L536L	C14orf49_uc010avi.3_Silent_p.L536L|C14orf49_uc001yej.1_Silent_p.L536L	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	536					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		TCCTCTGCAGGAGGCTGTTAT	0.612000														53			25		0	0	0.003954	0	0
DLGAP2	9228	broad.mit.edu	37	8	1513858	1513858	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:1513858G>A	uc003wpl.3	+	2	1097	c.1000G>A	c.(1000-1002)Gat>Aat	p.D334N	DLGAP2_uc003wpm.3_Missense_Mutation_p.D334N	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	413					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GGTACCTCAGGATGAGTGGGG	0.512000														4			10		0	0	0.010729	0	0
RBM10	8241	broad.mit.edu	37	X	47034426	47034426	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:47034426C>T	uc004dhi.3	+	5	935	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	RBM10_uc004dhe.2_Intron|RBM10_uc004dhf.3_Missense_Mutation_p.R171W|RBM10_uc004dhh.3_Missense_Mutation_p.R171W|RBM10_uc010nhq.3_Missense_Mutation_p.R94W|RBM10_uc004dhg.3_Missense_Mutation_p.R94W	NM_001204468	NP_001191397	P98175	RBM10_HUMAN	Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA.	171					RNA splicing|mRNA processing	chromatin remodeling complex	RNA binding|nucleotide binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						AGGTCAGAGCCGGGGCTTCGC	0.592000														4			23		0	0	0.003330	0	0
XXYLT1	152002	broad.mit.edu	37	3	194947472	194947472	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:194947472G>A	uc003fum.4	-	1	726	c.618C>T	c.(616-618)ttC>ttT	p.F206F	XXYLT1_uc011bsw.1_Silent_p.F60F	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	Homo sapiens xyloside xylosyltransferase 1 (XXYLT1), mRNA.	206						integral to membrane	transferase activity, transferring glycosyl groups										CGACCGAGAGGAAGAAGATGG	0.537000														63			11		0	0	0.002450	0	0
NLRP10	338322	broad.mit.edu	37	11	7981952	7981952	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:7981952C>T	uc001mfv.1	-	1	1224	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	403	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGGGAAAGCTCGGAGCAGCCC	0.537000														52			24		0	0	0.003330	0	0
SERINC4	619189	broad.mit.edu	37	15	44089049	44089049	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:44089049C>A	uc001zte.1	-	5	834	c.202G>T	c.(202-204)Gag>Tag	p.E68*	ELL3_uc001zsx.1_5'UTR|C15orf63_uc001ztb.3_Intron|SERINC4_uc001ztc.1_Non-coding_Transcript|SERINC4_uc010bds.1_Nonsense_Mutation_p.E68*|C15orf63_uc001ztf.3_5'Flank|C15orf63_uc021skf.1_5'Flank	NM_001033517	NP_001028689	A6NH21	SERC4_HUMAN	Homo sapiens serine incorporator 4 (SERINC4), mRNA.	312					phospholipid biosynthetic process	integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		TTACCTCTCTCTGGAGGACGG	0.498000														123			75		1.7488e-33	1.95393e-33	0.014410	1	0
F13A1	2162	broad.mit.edu	37	6	6266838	6266838	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:6266838C>T	uc003mwv.3	-	3	647	c.524G>A	c.(523-525)cGa>cAa	p.R175Q	F13A1_uc011dib.2_Missense_Mutation_p.R112Q	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	175					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTCTGGGTTTCGACTGGTTCG	0.463000														49			37		0	0	0.005524	0	0
ACOX3	8310	broad.mit.edu	37	4	8394118	8394118	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:8394118G>A	uc010idk.3	-	10	1387	c.1242C>T	c.(1240-1242)acC>acT	p.T414T	ACOX3_uc003glc.4_Silent_p.T414T|ACOX3_uc003gld.4_Silent_p.T414T	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	414					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CTTGCTGGGTGGTCCACGAGG	0.582000														157			104		0	0	0.014410	0	0
TMEM209	84928	broad.mit.edu	37	7	129815422	129815422	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:129815422G>A	uc003vpn.2	-	10	1397	c.1274C>T	c.(1273-1275)tCa>tTa	p.S425L	TMEM209_uc010lmc.1_Missense_Mutation_p.S383L	NM_032842	NP_116231	Q96SK2	TM209_HUMAN	Homo sapiens transmembrane protein 209 (TMEM209), mRNA.	425						integral to membrane		p.S424T(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					CCATCGAAATGAGCTCATACA	0.403000														15			9		0	0	0.013537	0	0
ZNF70	7621	broad.mit.edu	37	22	24087233	24087234	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:24087233_24087234CC>TT	uc002zxs.3	-	1	555_556	c.94_95GG>AA	c.(94-96)ggg>AAg	p.G32K	ZNF70_uc021wmu.1_Missense_Mutation_p.G32K	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN	Homo sapiens zinc finger protein 70 (ZNF70), mRNA.	32						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						AAAAGGGTCCCCCAGGTCCTCC	0.490000														69			47		0	0	0.004672	0	0
PSMA6	5687	broad.mit.edu	37	14	35786493	35786493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:35786493C>T	uc001wtd.3	+	6	831	c.722C>T	c.(721-723)gCt>gTt	p.A241V	KIAA0391_uc001wta.3_Non-coding_Transcript|PSMA6_uc010tpt.2_Missense_Mutation_p.A162V|PSMA6_uc010tpu.2_Missense_Mutation_p.A162V	NM_002791	NP_002782	P60900	PSA6_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 6 (PSMA6), mRNA.	241					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|RNA binding|purine ribonucleoside triphosphate binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CACCTTGTTGCTCTAGCAGAG	0.393000														100			55		0	0	0.014410	0	0
IGSF9	57549	broad.mit.edu	37	1	159897580	159897581	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:159897580_159897581GG>AA	uc001fur.2	-	19	3525_3526	c.3327_3328CC>TT	c.(3325-3330)tcccgg>tcTTgg	p.R1110W	IGSF9_uc001fuq.2_Missense_Mutation_p.R1094W|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Missense_Mutation_p.R256W	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	1110						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGTCTGAGCCGGGAGCTGGCCA	0.594000														64			36		0	0	0.004672	0	0
ZCCHC18	644353	broad.mit.edu	37	X	103359106	103359106	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:103359106C>T	uc011msh.2	+	2	1620	c.304C>T	c.(304-306)Cag>Tag	p.Q102*	SLC25A53_uc004elu.3_Intron|ZCCHC18_uc011msg.2_Intron	NM_001143978	NP_001137450	P0CG32	ZCC18_HUMAN	Homo sapiens zinc finger, CCHC domain containing 18 (ZCCHC18), transcript variant 1, mRNA.	102							nucleic acid binding|zinc ion binding										GCGTTTGCTTCAGGCGGCCAA	0.502000														10			18		0	0	0.006122	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62648613	62648613	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:62648613G>A	uc001jli.3	-	6	1251	c.813C>T	c.(811-813)atC>atT	p.I271I	RHOBTB1_uc009xpe.2_Silent_p.I209I|RHOBTB1_uc001jlh.3_Silent_p.I271I|RHOBTB1_uc001jlj.3_Silent_p.I271I|RHOBTB1_uc001jlk.3_Silent_p.I271I	NM_001242359	NP_001229288	O94844	RHBT1_HUMAN	Homo sapiens Rho-related BTB domain containing 1 (RHOBTB1), transcript variant 4, mRNA.	271	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GGTCCTGAAGGATGAACAGAA	0.443000														44			41		0	0	0.008740	0	0
GLRA2	2742	broad.mit.edu	37	X	14627222	14627222	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:14627222C>T	uc010neq.3	+	6	1585	c.825C>T	c.(823-825)tcC>tcT	p.S275S	GLRA2_uc004cwe.4_Silent_p.S275S|GLRA2_uc011mio.2_Silent_p.S186S|GLRA2_uc010nep.3_Silent_p.S275S|GLRA2_uc011mip.2_Silent_p.S253S	NM_002063	NP_002054	P23416	GLRA2_HUMAN	Homo sapiens glycine receptor, alpha 2 (GLRA2), transcript variant 1, mRNA.	275					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.S275F(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	CCTGGGTTTCCTTTTGGATAA	0.488000														24			67		0	0	0.014410	0	0
FNDC1	84624	broad.mit.edu	37	6	159636168	159636168	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:159636168G>A	uc010kjv.3	+	4	852	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	FNDC1_uc010kjw.1_Missense_Mutation_p.E166K	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	218	Fibronectin type-III 2.					extracellular region		p.E218K(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ACGGACACACGAAATTAAAAA	0.433000														48			30		0	0	0.012213	0	0
SIN3B	23309	broad.mit.edu	37	19	16977229	16977229	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:16977229C>T	uc002ney.2	+	12	1787	c.1764C>T	c.(1762-1764)ttC>ttT	p.F588F	SIN3B_uc002nez.2_Silent_p.F556F|SIN3B_uc010xpi.1_Silent_p.F146F	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	588	Interaction with SDS3 and HDAC1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGCAGGGCTTCAACAAGATCT	0.607000														35			22		0	0	0.014323	0	0
C7orf29	113763	broad.mit.edu	37	7	150027988	150027988	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:150027988G>A	uc003wgy.3	+	0	1051	c.495G>A	c.(493-495)agG>agA	p.R165R	LRRC61_uc003wgv.3_Intron|LRRC61_uc003wgx.3_Intron|LRRC61_uc003wgw.3_Intron	NM_138434	NP_612443	Q96FA7	CG029_HUMAN	Homo sapiens chromosome 7 open reading frame 29 (C7orf29), mRNA.	165										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TGGCCCAGAGGGAGAAGGGCT	0.652000														11			11		0	0	0.001855	0	0
PLXNA4	91584	broad.mit.edu	37	7	131831317	131831317	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:131831317C>T	uc003vra.4	-	27	5236	c.5007G>A	c.(5005-5007)ggG>ggA	p.G1669G	PLXNA4_uc003vqz.4_5'Flank	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1669						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						CCATCTTGCTCCCCCGGTCCC	0.572000														202			111		0	0	0.014410	0	0
A2M	2	broad.mit.edu	37	12	9264799	9264799	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:9264799G>A	uc001qvk.1	-	3	552	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C	A2M_uc009zgk.1_5'UTR	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	147					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GAGACAACACGAAATTTCACT	0.393000														42			19		0	0	0.010504	0	0
NCOA3	8202	broad.mit.edu	37	20	46276050	46276050	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:46276050C>T	uc002xtk.3	+	17	3747	c.3486C>T	c.(3484-3486)ccC>ccT	p.P1162P	NCOA3_uc002xtl.3_Silent_p.P1162P|NCOA3_uc002xtn.3_Silent_p.P1162P|NCOA3_uc010ght.2_Silent_p.P1157P|NCOA3_uc002xtm.3_Silent_p.P1162P|NCOA3_uc010zyc.2_Silent_p.P957P	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	1162	Acetyltransferase.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCATGAGACCCCGGACAAACA	0.502000														47			35		0	0	0.004289	0	0
OTOP3	347741	broad.mit.edu	37	17	72943179	72943179	+	Missense_Mutation	SNP	C	T	T	rs138864901		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:72943179C>T	uc010wrr.2	+	5	1229	c.1229C>T	c.(1228-1230)cCt>cTt	p.P410L	OTOP3_uc010wrq.2_Missense_Mutation_p.P392L	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	410						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GTCAAGAACCCTACCCGCAGC	0.622000														47			13		0	0	0.001855	0	0
COL11A1	1301	broad.mit.edu	37	1	103496800	103496800	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:103496800C>T	uc001dum.3	-	5	970	c.652_splice	c.e5-1	p.G218_splice	COL11A1_uc001duk.3_Splice_Site|COL11A1_uc001dul.3_Splice_Site_p.G218_splice|COL11A1_uc001dun.3_Splice_Site_p.G218_splice|COL11A1_uc009weh.3_Splice_Site_p.G218_splice	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	218	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGAATGTCCCCCTGGGAAAAA	0.383000														14			5		0	0	0.000602	0	0
ATP13A1	57130	broad.mit.edu	37	19	19763426	19763426	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:19763426T>C	uc002nnh.4	-	15	2232	c.2204A>G	c.(2203-2205)gAg>gGg	p.E735G	ATP13A1_uc002nne.3_5'Flank|ATP13A1_uc002nnf.4_Missense_Mutation_p.E103G|ATP13A1_uc002nng.3_Missense_Mutation_p.E617G	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	735					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						ATTCTGGATCTCCCGGATCAC	0.612000														9			4		0	0	0.000602	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	66795	66795	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrGL000209.1:66795C>T	uc002qud.4	+	4	911	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qtv.3_Missense_Mutation_p.P253S|KIR2DL2_uc010yic.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evd.3_Missense_Mutation_p.P297S|KIR2DL2_uc002quc.4_Missense_Mutation_p.P258S|KIR2DL2_uc002quh.4_Intron|KIR2DL2_uc002que.4_Intron|KIR2DL2_uc002quf.4_Intron|KIR2DL2_uc010eve.3_Intron|KIR2DL2_uc002qug.4_Intron|KIR2DL2_uc010evf.3_Non-coding_Transcript	NM_002255	NP_002246	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA.	260					regulation of immune response	integral to membrane|plasma membrane	receptor activity										CACCATCCTTCCCTTCTTTCT	0.512000														41			20		0	0	0.004656	0	0
KLHL13	90293	broad.mit.edu	37	X	117044002	117044002	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:117044002C>T	uc011mtp.2	-	5	770	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	KLHL13_uc004eqk.3_Missense_Mutation_p.E159K|KLHL13_uc004eql.3_Missense_Mutation_p.E210K|KLHL13_uc011mtn.2_Missense_Mutation_p.E50K|KLHL13_uc011mto.2_Missense_Mutation_p.E204K|KLHL13_uc011mtq.2_Missense_Mutation_p.E194K|KLHL13_uc004eqm.3_Missense_Mutation_p.E168K|KLHL13_uc022cde.1_Missense_Mutation_p.E194K	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	210	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TTATCCACTTCGGTTAGATTG	0.388000														14			36		0	0	0.005524	0	0
PPFIA2	8499	broad.mit.edu	37	12	81751925	81751925	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:81751925C>T	uc001szo.2	-	15	1870	c.1709G>A	c.(1708-1710)aGa>aAa	p.R570K	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.R496K|PPFIA2_uc021rbh.1_Missense_Mutation_p.R471K|PPFIA2_uc021rbi.1_Missense_Mutation_p.R570K|PPFIA2_uc021rbj.1_Missense_Mutation_p.R570K|PPFIA2_uc021rbk.1_Missense_Mutation_p.R552K|PPFIA2_uc021rbl.1_Missense_Mutation_p.R570K|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.R137K|PPFIA2_uc021rbf.1_5'UTR	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	496										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TTTAGTTGTTCTGTAATCAGA	0.408000														13			4		0	0	0.000602	0	0
PRR19	284338	broad.mit.edu	37	19	42814694	42814694	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:42814694G>A	uc002oti.3	+	2	1251	c.873G>A	c.(871-873)ctG>ctA	p.L291L	PRR19_uc002oth.1_3'UTR|PRR19_uc002otj.3_Silent_p.L291L|TMEM145_uc002otk.1_5'Flank	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN	Homo sapiens proline rich 19 (PRR19), mRNA.	291	Pro-rich.									NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				GCATCTGGCTGGTAGCCACGC	0.617000														70			39		0	0	0.007835	0	0
FAM71B	153745	broad.mit.edu	37	5	156590459	156590459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:156590459C>T	uc003lwn.3	-	1	917	c.817G>A	c.(817-819)Gga>Aga	p.G273R		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	273	Ala-rich.					nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTGCTGTTCCTGCCACTGCC	0.582000														156			55		0	0	0.014410	0	0
C7orf31	136895	broad.mit.edu	37	7	25176401	25176401	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:25176401G>A	uc003sxn.1	-	9	1524	c.963C>T	c.(961-963)ttC>ttT	p.F321F		NM_138811	NP_620166	Q8N865	CG031_HUMAN	Homo sapiens chromosome 7 open reading frame 31 (C7orf31), mRNA.	321										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						AGACAGGGTGGAATTTTTCTT	0.428000														74			57		0	0	0.014410	0	0
DHX9	1660	broad.mit.edu	37	1	182853892	182853892	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:182853892C>T	uc001gpr.3	+	26	3580	c.3405C>T	c.(3403-3405)atC>atT	p.I1135I	DHX9_uc001gps.3_Silent_p.I921I|DHX9_uc001gpt.3_Silent_p.I414I|DHX9_uc009wyd.3_Silent_p.I100I	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	1135					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TGAACATGATCCGTCAGATCT	0.483000														60			24		0	0	0.006320	0	0
NCOA2	10499	broad.mit.edu	37	8	71039106	71039106	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:71039106C>T	uc003xyn.1	-	18	4020	c.3858G>A	c.(3856-3858)atG>atA	p.M1286I	NCOA2_uc011lfb.1_Missense_Mutation_p.M374I	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	1286					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GAGGGTTGCTCATAGTTGCTG	0.488000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""									35			17		0	0	0.007413	0	0
RASGEF1A	221002	broad.mit.edu	37	10	43691949	43691949	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:43691949C>T	uc001jao.1	-	11	1505	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	RASGEF1A_uc001jap.1_Missense_Mutation_p.E466K	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN	Homo sapiens RasGEF domain family, member 1A (RASGEF1A), mRNA.	466					cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						CTGTCTTTTTCCATGTGGTTC	0.572000														90			29		0	0	0.009535	0	0
CALD1	800	broad.mit.edu	37	7	134613622	134613622	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:134613622C>T	uc003vrz.3	+	3	655	c.189C>T	c.(187-189)acC>acT	p.T63T	CALD1_uc003vry.3_Silent_p.T63T|CALD1_uc003vsb.3_Silent_p.T63T|CALD1_uc011kpt.2_5'UTR|CALD1_uc010lmm.3_Silent_p.T63T|CALD1_uc003vsc.3_Silent_p.T57T|CALD1_uc003vsd.3_Silent_p.T57T|CALD1_uc011kpu.2_Silent_p.T68T|CALD1_uc011kpv.2_5'UTR	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	63	Myosin and calmodulin-binding (By similarity).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GACAGGTGACCGACCAGGTGG	0.577000														35			25		0	0	0.004656	0	0
OR51S1	119692	broad.mit.edu	37	11	4870198	4870198	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:4870198A>T	uc010qyo.2	-	0	241	c.241T>A	c.(241-243)Ttg>Atg	p.L81M		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L81F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAGTGACCAATCCAATATCA	0.552000														66			41		0	0	0.006230	0	0
SLC25A52	147407	broad.mit.edu	37	18	29339869	29339869	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:29339869C>T	uc002kxa.2	-	0	975	c.756G>A	c.(754-756)aaG>aaA	p.K252K		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	Homo sapiens mitochondrial carrier triple repeat 2 (MCART2), nuclear gene encoding mitochondrial protein, mRNA.	252					transport	integral to membrane|mitochondrial inner membrane											TTTGGAAAACCTTGGGGAAAG	0.433000														20			23		0	0	0.003330	0	0
OR56A5	390084	broad.mit.edu	37	11	5989627	5989627	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:5989627G>A	uc010qzu.2	-	0	98	c.98C>T	c.(97-99)cCc>cTc	p.P33L		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	33						integral to membrane|plasma membrane	olfactory receptor activity										GAGGCTGAGGGGCAGAGACAG	0.547000														7			12		0	0	0.010729	0	0
ACSS3	79611	broad.mit.edu	37	12	81613831	81613831	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:81613831G>A	uc001szl.1	+	10	1581	c.1490G>A	c.(1489-1491)cGg>cAg	p.R497Q	ACSS3_uc001szm.1_Missense_Mutation_p.R496Q|ACSS3_uc001szn.1_Missense_Mutation_p.R179Q	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	497						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CTGAAGGCTCGGTGTTTAGGA	0.269000														41			18		0	0	0.008871	0	0
KIAA1549	57670	broad.mit.edu	37	7	138596028	138596028	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:138596028G>A	uc011kql.2	-	3	3058	c.3009C>T	c.(3007-3009)tcC>tcT	p.S1003S	KIAA1549_uc011kqj.2_Silent_p.S1003S	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1003						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CGAAAGGACCGGATGTTACCA	0.373000			O	BRAF	pilocytic astrocytoma									8			8		0	0	0.006214	0	0
C10orf2	56652	broad.mit.edu	37	10	102748999	102748999	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:102748999G>A	uc001ksf.2	+	0	1707	c.1032G>A	c.(1030-1032)gaG>gaA	p.E344E	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_Silent_p.E344E|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.	344					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	p.L343P(1)		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)		GTCCCCTGGAGGCCCTGAACG	0.582000														42			15		0	0	0.003163	0	0
GPR149	344758	broad.mit.edu	37	3	154147351	154147351	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:154147351C>T	uc003faa.3	-	0	154	c.54G>A	c.(52-54)gaG>gaA	p.E18E		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	18						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AATTATGATTCTCTTTCCACA	0.373000														62			19		0	0	0.010504	0	0
CIITA	4261	broad.mit.edu	37	16	10995407	10995407	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:10995407G>A	uc002daj.4	+	5	609	c.476G>A	c.(475-477)tGg>tAg	p.W159*	CIITA_uc002dai.4_Nonsense_Mutation_p.W158*|CIITA_uc002dak.4_Nonsense_Mutation_p.W158*|CIITA_uc002dag.2_Nonsense_Mutation_p.W158*|CIITA_uc002dah.2_Nonsense_Mutation_p.W159*|CIITA_uc010bup.1_Nonsense_Mutation_p.W158*	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	158					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CTGAAGCACTGGAAGCCAGGT	0.607000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									17			10		0	0	0.010729	0	0
OR6C2	341416	broad.mit.edu	37	12	55846322	55846322	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:55846322G>A	uc001sgz.1	+	0	325	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TGGAGCAACAGAATTTTTTCT	0.403000														77			59		0	0	0.014410	0	0
ZBTB2	57621	broad.mit.edu	37	6	151686991	151686992	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:151686991_151686992GG>AA	uc003qoh.3	-	2	1344_1345	c.1209_1210CC>TT	c.(1207-1212)aaccag>aaTTag	p.Q404*		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	Homo sapiens zinc finger and BTB domain containing 2 (ZBTB2), mRNA.	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		CGGGCAGCCTGGTTGGCCCTGC	0.510000														48			24		0	0	0.004672	0	0
HYDIN	54768	broad.mit.edu	37	16	70908741	70908741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:70908741C>T	uc002ezr.3	-	62	10787	c.10636G>A	c.(10636-10638)Gaa>Aaa	p.E3546K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3547										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)				GGTTTATTTTCCTCTGTGATG	0.522000														11			8		0	0	0.006214	0	0
FRMD8	83786	broad.mit.edu	37	11	65168246	65168246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:65168246C>T	uc001odu.4	+	8	1171	c.979C>T	c.(979-981)Ccc>Tcc	p.P327S	FRMD8_uc009yqj.3_Missense_Mutation_p.P271S|FRMD8_uc010rof.2_Missense_Mutation_p.P293S	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	Homo sapiens FERM domain containing 8 (FRMD8), mRNA.	327	FERM.					cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CCACACCTCCCCCGAGGAGGA	0.637000														20			25		0	0	0.003954	0	0
POTEH	23784	broad.mit.edu	37	22	16287790	16287790	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:16287790G>A	uc010gqp.2	-	0	148	c.96C>T	c.(94-96)ttC>ttT	p.F32F	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	32										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGCACCAGGCGAAGCAGTGGC	0.582000														560			86		0	0	0.014410	0	0
ROS1	6098	broad.mit.edu	37	6	117683872	117683872	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:117683872C>T	uc003pxp.1	-	20	3474	c.3275G>A	c.(3274-3276)aGt>aAt	p.S1092N	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1092	Fibronectin type-III 5.				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)		GTTTGTAATACTTTGATTGGA	0.363000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									43			26		0	0	0.005443	0	0
METTL19	152992	broad.mit.edu	37	4	8469918	8469918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:8469918C>T	uc003glg.2	+	8	1790	c.1772C>T	c.(1771-1773)cCc>cTc	p.P591L	METTL19_uc003glf.1_Missense_Mutation_p.P350L|METTL19_uc003glh.1_Missense_Mutation_p.P199L	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN	Homo sapiens methyltransferase like 19 (METTL19), transcript variant 2, mRNA.	591					tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding			kidney(1)|lung(6)|ovary(3)|prostate(1)	11						GGATTTCATCCCAGAGAAAAG	0.567000														33			14		0	0	0.001855	0	0
CACNG2	10369	broad.mit.edu	37	22	36983539	36983539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:36983539C>T	uc003aps.2	-	1	337	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.	90					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.Y89Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GTGTCAGCTTCGTAATCTGCA	0.473000														139			70		0	0	0.014410	0	0
C3orf22	152065	broad.mit.edu	37	3	126268752	126268752	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:126268752G>A	uc003ejb.3	-	3	714	c.385C>T	c.(385-387)Cag>Tag	p.Q129*		NM_152533	NP_689746	Q8N5N4	CC022_HUMAN	Homo sapiens chromosome 3 open reading frame 22 (C3orf22), mRNA.	129										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		TTGCTGGTCTGGGGGCAGGCA	0.627000														24			4		0	0	0.009096	0	0
OR5B21	219968	broad.mit.edu	37	11	58275543	58275543	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:58275543G>A	uc010rki.2	-	0	36	c.36C>T	c.(34-36)ctC>ctT	p.L12L		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 21 (OR5B21), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTAATCCCAAGAGGATAAACT	0.438000														38			17		0	0	0.007413	0	0
DUSP22	56940	broad.mit.edu	37	6	345884	345884	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:345884C>T	uc003msx.3	+	4	658	c.219C>T	c.(217-219)ttC>ttT	p.F73F	DUSP22_uc011dhn.1_Silent_p.F73F|DUSP22_uc003msy.1_Silent_p.F30F	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA.	73	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GTATTAAATTCATTCACGAGT	0.418000														61			13		0	0	0.002450	0	0
TBC1D21	161514	broad.mit.edu	37	15	74181416	74181416	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:74181416C>T	uc002avz.3	+	10	1068	c.985C>T	c.(985-987)Cag>Tag	p.Q329*	TBC1D21_uc010ulc.2_Nonsense_Mutation_p.Q293*	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN	Homo sapiens TBC1 domain family, member 21 (TBC1D21), mRNA.	329						intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CTAGGTTCCTCAGACATTAAA	0.552000														23			11		0	0	0.001855	0	0
PRB2	653247	broad.mit.edu	37	12	11546714	11546714	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:11546714C>T	uc010shk.1	-	2	333	c.298G>A	c.(298-300)Gga>Aga	p.G100R		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGGTGGTCCTTGTGGCTTT	0.617000														419			122		0	0	0.014410	0	0
MGAM	8972	broad.mit.edu	37	7	141740561	141740561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:141740561G>A	uc003vwy.3	+	20	2467	c.2413G>A	c.(2413-2415)Gaa>Aaa	p.E805K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	805	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGTCGAGATGGAACTTCCTGG	0.478000														16			15		0	0	0.002450	0	0
CABS1	85438	broad.mit.edu	37	4	71201181	71201181	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:71201181A>C	uc003hff.3	+	0	511	c.425A>C	c.(424-426)gAa>gCa	p.E142A	CABS1_uc021xoz.1_Missense_Mutation_p.E142A	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	Homo sapiens calcium-binding protein, spermatid-specific 1 (CABS1), mRNA.	142						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATAGCAAAAGAAGATATCCTC	0.403000														33			22		0	0	0.004656	0	0
ALK	238	broad.mit.edu	37	2	29754789	29754789	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:29754789C>T	uc002rmy.3	-	3	2098	c.1146G>A	c.(1144-1146)ggG>ggA	p.G382G		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	382	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	ACCCATGCTTCCCTGGAGTGG	0.498000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					26			26		0	0	0.005443	0	0
KANSL1	284058	broad.mit.edu	37	17	44109022	44109022	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:44109022G>A	uc002ikc.3	-	14	3609	c.3138C>T	c.(3136-3138)ccC>ccT	p.P1046P	KANSL1_uc002ikd.3_Silent_p.P1046P|KANSL1_uc010dav.3_Silent_p.P1045P|KANSL1_uc010wkb.2_Silent_p.P377P|KANSL1_uc010wkc.2_Silent_p.P314P	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	1046						MLL1 complex	protein binding										ACTCCGCCTGGGGACTGTGCG	0.667000														33			17		0	0	0.007413	0	0
KIAA0513	9764	broad.mit.edu	37	16	85100744	85100744	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:85100744C>T	uc002fiu.3	+	1	287	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S	KIAA0513_uc010voj.2_Missense_Mutation_p.P23S|KIAA0513_uc002fit.3_Missense_Mutation_p.P23S	NM_014732	NP_055547	O60268	K0513_HUMAN	Homo sapiens KIAA0513 (KIAA0513), mRNA.	23						cytoplasm		p.P23L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		CACCTCTTCTCCCCTGGAGGC	0.647000														39			20		0	0	0.012319	0	0
KIF13A	63971	broad.mit.edu	37	6	17850608	17850608	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:17850608G>A	uc003ncg.4	-	7	823	c.663C>T	c.(661-663)tcC>tcT	p.S221S	KIF13A_uc003ncf.3_Silent_p.S221S|KIF13A_uc003nch.4_Silent_p.S221S|KIF13A_uc003nci.4_Silent_p.S221S	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	221	Kinesin-motor.				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)			ACACAGCATGGGAGCGGCTGC	0.473000														30			18		0	0	0.004990	0	0
RALGAPB	57148	broad.mit.edu	37	20	37202877	37202877	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:37202877C>T	uc002xiw.3	+	28	4484	c.4227C>T	c.(4225-4227)gcC>gcT	p.A1409A	RALGAPB_uc002xix.3_Silent_p.A1406A|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.3_Silent_p.A1188A	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	1409					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTCAAGGAGCCACTGGAAAAT	0.383000														99			35		0	0	0.003271	0	0
ZNF718	255403	broad.mit.edu	37	4	59432	59432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:59432G>A	uc003fzv.1	+	1	269	c.113G>A	c.(112-114)aGg>aAg	p.R38K	ZNF718_uc003fzt.4_Missense_Mutation_p.R38K|ZNF718_uc003fzu.1_Non-coding_Transcript|ZNF718_uc010iay.1_Non-coding_Transcript|ZNF718_uc011bus.1_5'UTR|ZNF718_uc011but.1_Intron	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	38	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		GAGAACTACAGGAACCTGGTC	0.438000														481			37		0	0	0.011902	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188434	140188434	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140188434C>T	uc003lhi.2	+	0	1763	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.F554F|PCDHAC2_uc011daa.2_Silent_p.F554F	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	568	Cadherin 5.				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)			TGCAGGTGTTCGTGCTGGACG	0.667000														47			53		0	0	0.014410	0	0
TET1	80312	broad.mit.edu	37	10	70332852	70332852	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:70332852C>T	uc001jok.4	+	1	1262	c.757C>T	c.(757-759)Ccc>Tcc	p.P253S		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	253					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TGCTCCTTTTCCCCAAAGAGC	0.448000														45			10		0	0	0.001855	0	0
EZR	7430	broad.mit.edu	37	6	159188461	159188461	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:159188461G>A	uc003qrt.4	-	11	1643	c.1428C>T	c.(1426-1428)ccC>ccT	p.P476P	MIR3918_uc021zho.1_5'Flank|EZR_uc011efr.2_Silent_p.P83P|EZR_uc011efs.2_Silent_p.P444P|EZR_uc003qru.4_Silent_p.P476P	NM_003379	NP_003370	P15311	EZRI_HUMAN	Homo sapiens ezrin (EZR), transcript variant 1, mRNA.	476	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GCTCGTACACGGGGGGTGGTG	0.622000			T	ROS1	NSCLC									62			29		0	0	0.003271	0	0
DNAH11	8701	broad.mit.edu	37	7	21827199	21827199	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:21827199G>A	uc003svc.3	+	60	9974	c.9943G>A	c.(9943-9945)Gag>Aag	p.E3315K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3315	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TAAATTCTATGAGGTATCAAT	0.383000									Kartagener syndrome					30			6		0	0	0.001984	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123216083	123216083	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:123216083G>A	uc004bkf.3	-	20	2625	c.2444C>T	c.(2443-2445)tCt>tTt	p.S815F	CDK5RAP2_uc004bke.3_Missense_Mutation_p.S100F|CDK5RAP2_uc004bkg.3_Missense_Mutation_p.S815F|CDK5RAP2_uc011lxw.2_Missense_Mutation_p.S80F|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Missense_Mutation_p.S80F|CDK5RAP2_uc011lya.2_Missense_Mutation_p.S80F|CDK5RAP2_uc004bkh.1_Intron|CDK5RAP2_uc004bki.3_Missense_Mutation_p.S582F	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	815					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GTGTTCTCCAGAAACTTCCTG	0.433000														20			36		0	0	0.004289	0	0
BIRC6	57448	broad.mit.edu	37	2	32666457	32666457	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:32666457C>T	uc010ezu.3	+	16	4005	c.3871C>T	c.(3871-3873)Cgg>Tgg	p.R1291W		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	1291					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGAAAACCTCCGGGGCTGTGA	0.303000														23			27		0	0	0.007291	0	0
ANPEP	290	broad.mit.edu	37	15	90342704	90342704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:90342704C>T	uc002bop.4	-	12	2198	c.1906G>A	c.(1906-1908)Gaa>Aaa	p.E636K		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	636	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	p.E636K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CAGTTCTCTTCGTCGTAGTTC	0.587000														43			26		0	0	0.003330	0	0
DNAH9	1770	broad.mit.edu	37	17	11593453	11593453	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:11593453G>A	uc002gne.3	+	19	4382	c.4314G>A	c.(4312-4314)aaG>aaA	p.K1438K	DNAH9_uc010coo.3_Silent_p.K732K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1438	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)		AAACCTTAAAGGAGCTGCAGA	0.552000														13			13		0	0	0.001855	0	0
POLE	5426	broad.mit.edu	37	12	133236096	133236096	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:133236096C>T	uc001uks.1	-	26	3105	c.3061_splice	c.e26-1	p.A1021_splice	POLE_uc001ukr.1_5'Flank|POLE_uc010tbq.1_Splice_Site|POLE_uc009zyu.1_Splice_Site_p.A994_splice	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1021					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGTTGGCTGCCTAGAGAAAGA	0.527000								DNA polymerases (catalytic subunits)						34			24		0	0	0.002780	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20505050	20505050	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:20505050C>T	uc002wrz.3	-	30	4043	c.3900_splice	c.e30+1	p.R1300_splice	RALGAPA2_uc002wry.3_Splice_Site_p.R915_splice|RALGAPA2_uc010zsg.2_Splice_Site_p.R748_splice|RALGAPA2_uc002wsa.1_Splice_Site_p.R72_splice	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1300					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GTAGACTCACCCTGTAGATAT	0.512000														23			13		0	0	0.013537	0	0
MYH13	8735	broad.mit.edu	37	17	10258257	10258257	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:10258257G>A	uc002gmk.1	-	9	946	c.856C>T	c.(856-858)Cat>Tat	p.H286Y		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	286	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TAGAAAATATGATAGCTTCTC	0.358000														12			14		0	0	0.004990	0	0
C2orf16	84226	broad.mit.edu	37	2	27801023	27801023	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:27801023G>A	uc002rkz.4	+	0	1635	c.1584G>A	c.(1582-1584)acG>acA	p.T528T		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	528										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)					AGTCTGTGACGATACCAAGGC	0.433000														55			11		0	0	0.008291	0	0
FAM19A4	151647	broad.mit.edu	37	3	68788229	68788229	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:68788229C>T	uc021xag.1	-	4	901	c.408G>A	c.(406-408)acG>acA	p.T136T	FAM19A4_uc021xah.1_Silent_p.T136T	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 (FAM19A4), transcript variant 1, mRNA.	136						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		TACTTGCCTTCGTAGTTTTGA	0.408000														70			12		0	0	0.001855	0	0
LTB4R2	56413	broad.mit.edu	37	14	24780543	24780543	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:24780543C>T	uc021rrp.1	+	0	673	c.673C>T	c.(673-675)Ctg>Ttg	p.L225L	CIDEB_uc001woo.3_5'UTR|CIDEB_uc001wop.3_5'UTR|LTB4R2_uc010alo.3_Silent_p.L225L|LTB4R2_uc001wor.3_Silent_p.L225L|LTB4R_uc001wos.3_5'Flank|LTB4R_uc010alp.3_5'Flank	NM_019839	NP_062813	Q9NPC1	LT4R2_HUMAN	Homo sapiens leukotriene B4 receptor 2 (LTB4R2), transcript variant 1, mRNA.	256					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		ggtgggccggcTGGTGAGCGC	0.731000														7			8		0	0	0.003080	0	0
INTS5	80789	broad.mit.edu	37	11	62415653	62415653	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:62415653G>A	uc001nud.3	-	1	1952	c.1899C>T	c.(1897-1899)ccC>ccT	p.P633P	GANAB_uc001nua.3_5'Flank|GANAB_uc001nub.3_5'Flank|GANAB_uc001nuc.3_5'Flank|GANAB_uc010rma.2_5'Flank|GANAB_uc010rmb.2_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	Homo sapiens integrator complex subunit 5 (INTS5), mRNA.	633					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CAGAAGGAAAGGGACAAATGG	0.597000														43			12		0	0	0.013537	0	0
HECTD3	79654	broad.mit.edu	37	1	45469358	45469358	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:45469358G>A	uc009vxk.3	-	19	2582	c.2484C>T	c.(2482-2484)ttC>ttT	p.F828F	HECTD3_uc001cmx.4_Silent_p.F177F|HECTD3_uc001cmy.4_Silent_p.F438F|HECTD3_uc010olh.2_Silent_p.F544F	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	Homo sapiens HECT domain containing 3 (HECTD3), mRNA.	828	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					AGTGTGGCAGGAAGAGGGTGC	0.602000														80			28		0	0	0.012213	0	0
CPNE6	9362	broad.mit.edu	37	14	24543814	24543814	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:24543814G>A	uc010tnv.2	+	6	884	c.738G>A	c.(736-738)tgG>tgA	p.W246*	CPNE6_uc001wlm.3_Nonsense_Mutation_p.W16*|CPNE6_uc001wll.3_Nonsense_Mutation_p.W191*|CPNE6_uc001wln.3_5'Flank	NM_006032	NP_006023	O95741	CPNE6_HUMAN	Homo sapiens copine VI (neuronal) (CPNE6), mRNA.	191					lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		AGCTGGTCTGGAGAACTGAGG	0.517000														72			15		0	0	0.002450	0	0
AKR1D1	6718	broad.mit.edu	37	7	137792215	137792215	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:137792215G>A	uc003vtz.3	+	6	831	c.744G>A	c.(742-744)ggG>ggA	p.G248G	AKR1D1_uc011kqf.2_Silent_p.G207G|AKR1D1_uc011kqe.1_Silent_p.G248G|AKR1D1_uc010lmy.1_Non-coding_Transcript	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	248					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						ACTCATTGGGGAAAAGGTACA	0.363000														46			31		0	0	0.003755	0	0
STRBP	55342	broad.mit.edu	37	9	125932298	125932298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:125932298C>T	uc004bns.3	-	5	860	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	STRBP_uc004bnt.3_5'UTR|STRBP_uc004bnu.3_Missense_Mutation_p.E126K|STRBP_uc004bnv.3_Missense_Mutation_p.E140K	NM_018387	NP_001164608	Q96SI9	STRBP_HUMAN	Homo sapiens spermatid perinuclear RNA binding protein (STRBP), transcript variant 1, mRNA.	140	DZF.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						ACACATTGTTCCACTTGATAT	0.348000														5			10		0	0	0.002450	0	0
EMP1	2012	broad.mit.edu	37	12	13367509	13367509	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:13367509T>A	uc001rbr.3	+	4	605	c.358T>A	c.(358-360)Tat>Aat	p.Y120N	EMP1_uc009zhy.3_Missense_Mutation_p.Y53N|EMP1_uc010shr.1_Silent_p.I107I	NM_001423	NP_001414	P54849	EMP1_HUMAN	Homo sapiens epithelial membrane protein 1 (EMP1), mRNA.	120					cell growth|cell proliferation|epidermis development	integral to membrane|membrane fraction							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		CACTAGTCATTATGCGAATCG	0.473000														90			58		0	0	0.014410	0	0
TMOD1	7111	broad.mit.edu	37	9	100286524	100286524	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:100286524C>T	uc004axl.2	+	1	190	c.54C>T	c.(52-54)atC>atT	p.I18I	TMOD1_uc004axk.2_Silent_p.I18I	NM_001166116	NP_003266	P28289	TMOD1_HUMAN	Homo sapiens tropomodulin 1 (TMOD1), transcript variant 2, mRNA.	18					muscle filament sliding	cytosol	actin binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		AAGATGAAATCCTTGGAGCCC	0.473000														11			16		0	0	0.004990	0	0
CAMK1G	57172	broad.mit.edu	37	1	209782328	209782328	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:209782328C>T	uc001hhd.3	+	7	741	c.639C>T	c.(637-639)ctC>ctT	p.L213L	CAMK1G_uc001hhf.4_Silent_p.L213L|CAMK1G_uc001hhe.3_Silent_p.L213L	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	213	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		GCTGCAGGCTCTGTGGATACC	0.512000														54			26		0	0	0.005443	0	0
OS9	10956	broad.mit.edu	37	12	58113910	58113910	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:58113910C>T	uc001spj.3	+	12	1836	c.1629C>T	c.(1627-1629)gtC>gtT	p.V543V	OS9_uc010srx.2_Intron|OS9_uc001spk.3_Silent_p.V528V|OS9_uc001spl.3_Intron|OS9_uc001spm.3_Intron|OS9_uc001spn.3_Intron|OS9_uc010sry.2_Intron|OS9_uc010srz.2_Intron	NM_006812	NP_006803	Q13438	OS9_HUMAN	Homo sapiens osteosarcoma amplified 9, endoplasmic reticulum lectin (OS9), transcript variant 1, mRNA.	543					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	Hrd1p ubiquitin ligase complex|endoplasmic reticulum lumen	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GAGTCCGGGTCCGGGTCACCA	0.577000														76			34		0	0	0.006230	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140750280	140750280	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140750280G>A	uc003ljw.2	+	0	319	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	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_uc011dat.2_Missense_Mutation_p.E107K	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	107	Cadherin 1.				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)			TCTGGAATTTGAAATGGTTGC	0.433000														168			47		0	0	0.014410	0	0
EIF2S3	1968	broad.mit.edu	37	X	24086119	24086119	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:24086119C>T	uc004dbc.3	+	8	927	c.906C>T	c.(904-906)tcC>tcT	p.S302S		NM_001415	NP_001406	P41091	IF2G_HUMAN	Homo sapiens eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa (EIF2S3), mRNA.	302						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						GTATTGTTTCCAAAGATAGTG	0.363000														20			46		0	0	0.013114	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815487	106815487	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:106815487G>A	uc003ymd.3	+	7	3200	c.3177G>A	c.(3175-3177)caG>caA	p.Q1059Q	ZFPM2_uc011lhs.2_Silent_p.Q790Q	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	1059					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)			CCAACCCACAGCAAGAGAACA	0.478000														25			9		0	0	0.006214	0	0
FBXO10	26267	broad.mit.edu	37	9	37537249	37537249	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:37537249G>A	uc004aac.3	-	2	1405	c.1325C>T	c.(1324-1326)tCc>tTc	p.S442F	FBXO10_uc004aab.3_Missense_Mutation_p.S426F|FBXO10_uc004aad.3_Intron	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	Homo sapiens F-box protein 10 (FBXO10), mRNA.	426						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GCCCTGCACGGAGTTGGCCAG	0.602000														21			10		0	0	0.006214	0	0
SNRPB	6628	broad.mit.edu	37	20	2443294	2443294	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:2443294G>A	uc002wfz.1	-	5	836	c.673C>T	c.(673-675)Cct>Tct	p.P225S	SNRPB_uc002wga.1_Missense_Mutation_p.P225S|SNRPB_uc010zpv.2_Missense_Mutation_p.P146S|SNRPB_uc002wgb.3_Missense_Mutation_p.P225S	NM_198216	NP_937859	P14678	RSMB_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptides B and B1 (SNRPB), transcript variant 1, mRNA.	225	Repeat-rich region.				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	U12-type spliceosomal complex|U7 snRNP|catalytic step 2 spliceosome|cytosol|nucleoplasm	RNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CGCATCCCAGGGGGAGGAGGC	0.572000														59			45		0	0	0.014410	0	0
MYO5B	4645	broad.mit.edu	37	18	47352939	47352939	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:47352939T>G	uc002leb.2	-	39	5737	c.5449A>C	c.(5449-5451)Atg>Ctg	p.M1817L	MYO5B_uc002ldz.3_Missense_Mutation_p.M387L|MYO5B_uc002lea.2_Missense_Mutation_p.M932L	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1817					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ACAGGAAACATGTGCTTGGCA	0.423000														37			26		0	0	0.004656	0	0
TAS2R39	259285	broad.mit.edu	37	7	142881021	142881021	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:142881021C>T	uc011ksw.2	+	0	510	c.510C>T	c.(508-510)ttC>ttT	p.F170F		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	170					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TTATTTCCTTCAGTCACAGCA	0.433000														54			29		0	0	0.005443	0	0
BIN2	51411	broad.mit.edu	37	12	51689613	51689613	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:51689613G>A	uc001ryg.3	-	8	780	c.728C>T	c.(727-729)tCc>tTc	p.S243F	BIN2_uc009zlz.3_Missense_Mutation_p.S211F|BIN2_uc001ryh.3_Missense_Mutation_p.S119F|BIN2_uc010sng.2_Missense_Mutation_p.S217F	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	243	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GACTTTATTGGAATGTTGCTT	0.458000														130			83		0	0	0.014410	0	0
FAM47C	442444	broad.mit.edu	37	X	37027798	37027798	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:37027798C>T	uc004ddl.2	+	0	1367	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	439										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						ATCTCATCTCCGCCCGGAACC	0.612000														13			36		0	0	0.003755	0	0
EFS	10278	broad.mit.edu	37	14	23829917	23829917	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:23829917G>A	uc001wjo.3	-	1	752	c.144C>T	c.(142-144)ctC>ctT	p.L48L	EFS_uc001wjp.3_Intron|EFS_uc010tnm.2_Intron	NM_005864	NP_005855	O43281	EFS_HUMAN	Homo sapiens embryonal Fyn-associated substrate (EFS), transcript variant 1, mRNA.	48	SH3.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GTAGGGAGCAGAGGCACCAGC	0.672000														42			22		0	0	0.014323	0	0
TUBB3	10381	broad.mit.edu	37	16	90001540	90001540	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:90001540C>T	uc002fpf.2	+	4	2130	c.1722C>T	c.(1720-1722)caC>caT	p.H574H	TUBB3_uc010ciz.1_Silent_p.H155H|TUBB3_uc002fph.2_Silent_p.H227H|TUBB3_uc002fpj.1_Silent_p.H155H|TUBB3_uc002fpk.1_Silent_p.H81H	NM_006086	NP_006077	Q13509	TBB3_HUMAN	Homo sapiens tubulin, beta 3 class III (TUBB3), transcript variant 1, mRNA.	227					'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)		ACCTCAACCACCTGGTATCGG	0.627000														43			9		0	0	0.004482	0	0
PDLIM2	64236	broad.mit.edu	37	8	22442633	22442633	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:22442633C>T	uc003xby.3	+	4	1208	c.419C>T	c.(418-420)cCc>cTc	p.P140L	PDLIM2_uc003xbx.2_Missense_Mutation_p.P390L|PDLIM2_uc003xca.3_Missense_Mutation_p.P140L|PDLIM2_uc003xcc.2_Missense_Mutation_p.P140L	NM_021630	NP_067643	Q96JY6	PDLI2_HUMAN	Homo sapiens PDZ and LIM domain 2 (mystique) (PDLIM2), transcript variant 2, mRNA.	140	Ser-rich.					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		TCACCACCACCCTCTAGCAGC	0.642000														57			21		0	0	0.014323	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389963	150389963	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:150389963G>A	uc003who.3	+	2	677	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	197						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAAGTGAAGGAACTAATGGA	0.453000														59			29		0	0	0.013726	0	0
BTAF1	9044	broad.mit.edu	37	10	93770907	93770907	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:93770907G>A	uc001khr.3	+	29	4279	c.4181_splice	c.e29+1	p.R1394_splice		NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	1394	Helicase ATP-binding.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GATTTCTTTAGGTAAGaatta	0.269000														37			9		0	0	0.004482	0	0
HNRNPL	3191	broad.mit.edu	37	19	39330888	39330888	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:39330888G>A	uc021uuh.1	-	7	1092	c.1081C>T	c.(1081-1083)Ccc>Tcc	p.P361S	HNRNPL_uc002ojj.1_Missense_Mutation_p.P17S|HNRNPL_uc010ege.1_Missense_Mutation_p.P17S|HNRNPL_uc002ojk.3_Missense_Mutation_p.P17S|HNRNPL_uc002ojl.3_Missense_Mutation_p.P17S|HNRNPL_uc021uui.1_Missense_Mutation_p.P228S|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojp.1_Missense_Mutation_p.P17S|HNRNPL_uc010xun.2_Silent_p.A68A	NM_001533	NP_001005335	P14866	HNRPL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L (HNRNPL), transcript variant 1, mRNA.	361	Pro-rich.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CCATACTGGGGGCCGTAGCGA	0.642000														11			12		0	0	0.013537	0	0
FMO4	2329	broad.mit.edu	37	1	171310799	171310799	+	Nonsense_Mutation	SNP	C	T	T	rs145740321		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:171310799C>T	uc001gho.3	+	9	1715	c.1498C>T	c.(1498-1500)Cga>Tga	p.R500*		NM_002022	NP_002013	P31512	FMO4_HUMAN	Homo sapiens flavin containing monooxygenase 4 (FMO4), mRNA.	500					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.R500Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TTTAAAAACTCGAATTGTCCC	0.478000														21			17		0	0	0.004007	0	0
NKX6-1	4825	broad.mit.edu	37	4	85416951	85416951	+	Silent	SNP	C	T	T	rs111718959		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:85416951C>T	uc003hpa.1	-	1	723	c.717G>A	c.(715-717)acG>acA	p.T239T		NM_006168	NP_006159	P78426	NKX61_HUMAN	Homo sapiens NK6 homeobox 1 (NKX6-1), mRNA.	239	Repressor domain (By similarity).				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		AAGTGGGTCTCGTGTGTTTTC	0.488000														79			19		0	0	0.002780	0	0
PROKR2	128674	broad.mit.edu	37	20	5282926	5282926	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:5282926G>A	uc010zqw.2	-	1	923	c.915C>T	c.(913-915)ttC>ttT	p.F305F	PROKR2_uc010zqx.2_Silent_p.F305F|PROKR2_uc010zqy.2_Silent_p.F305F	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	305						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TTTCCTTCACGAACACAGTGG	0.537000										HNSCC(71;0.22)				53			24		0	0	0.014323	0	0
MUC17	140453	broad.mit.edu	37	7	100675956	100675956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:100675956C>T	uc003uxp.1	+	2	1312	c.1259C>T	c.(1258-1260)tCc>tTc	p.S420F	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	420	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)					CCTGTTGACTCCAAAACTTTT	0.468000														153			99		0	0	0.014410	0	0
HTR1A	3350	broad.mit.edu	37	5	63256578	63256578	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:63256578C>T	uc011cqt.2	-	0	969	c.969G>A	c.(967-969)agG>agA	p.R323R		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	323					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)	GCTCATTTTTCCTCTCGAAAG	0.607000														53			28		0	0	0.009535	0	0
ANO2	57101	broad.mit.edu	37	12	5756906	5756906	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:5756906G>A	uc001qnm.2	-	15	1679	c.1607C>T	c.(1606-1608)tCc>tTc	p.S536F		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	541						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GAATAAGATGGAGGCAAAGTT	0.458000														10			6		0	0	0.001168	0	0
OR8H1	219469	broad.mit.edu	37	11	56057983	56057983	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:56057983G>A	uc010rje.2	-	0	556	c.556C>T	c.(556-558)Ctg>Ttg	p.L186L		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					ATGCAGGACAGAGCTAAAATT	0.428000														48			9		0	0	0.008291	0	0
PPL	5493	broad.mit.edu	37	16	4934167	4934167	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:4934167C>T	uc002cyd.1	-	21	4579	c.4489G>A	c.(4489-4491)Gag>Aag	p.E1497K		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	1497					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ACCACCTTCTCCTTGACCTCC	0.632000														26			24		0	0	0.006320	0	0
ST18	9705	broad.mit.edu	37	8	53076606	53076606	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:53076606G>A	uc003xqz.2	-	7	1496	c.1340C>T	c.(1339-1341)tCc>tTc	p.S447F	ST18_uc011ldq.1_Missense_Mutation_p.S94F|ST18_uc011ldr.1_Missense_Mutation_p.S412F|ST18_uc011lds.1_Missense_Mutation_p.S352F|ST18_uc003xra.2_Missense_Mutation_p.S447F|ST18_uc003xrb.2_Missense_Mutation_p.S447F	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	447						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)				TTTATCCTGGGACATTGCCAA	0.413000														86			52		0	0	0.014410	0	0
KCTD2	23510	broad.mit.edu	37	17	73059132	73059132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:73059132C>T	uc002jmp.3	+	5	849	c.782C>T	c.(781-783)tCg>tTg	p.S261L	KCTD2_uc010dfz.3_Non-coding_Transcript|KCTD2_uc002jmq.3_Non-coding_Transcript	NM_015353	NP_056168	Q14681	KCTD2_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 2 (KCTD2), mRNA.	261						voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|lung(2)	3	all_lung(278;0.226)					GAGAGAGGATCGCGGATGTAA	0.552000														28			8		0	0	0.003080	0	0
SAP130	79595	broad.mit.edu	37	2	128767935	128767935	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:128767935G>A	uc010fmd.2	-	6	987	c.855C>T	c.(853-855)atC>atT	p.I285I	SAP130_uc002tpn.2_Silent_p.I46I|SAP130_uc002tpp.2_Silent_p.I285I|SAP130_uc002tpq.1_Silent_p.I259I	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	285					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CAGCAGGAGGGATGGCATTGG	0.448000														36			4		0	0	0.000602	0	0
SCN11A	11280	broad.mit.edu	37	3	38888901	38888901	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:38888901C>T	uc021wvy.1	-	25	4859	c.4660G>A	c.(4660-4662)Gat>Aat	p.D1554N		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1554					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)	AGCAGGGAATCCCAACCTGCT	0.468000														63			8		0	0	0.004482	0	0
XYLT1	64131	broad.mit.edu	37	16	17228497	17228497	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:17228497G>A	uc002dfa.3	-	8	1945	c.1860C>T	c.(1858-1860)taC>taT	p.Y620Y		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	620					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TACCTGCAGGGTAGTTCCCGT	0.567000														96			28		0	0	0.005443	0	0
BACE2	25825	broad.mit.edu	37	21	42540503	42540503	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr21:42540503G>A	uc002yyw.3	+	1	775	c.312_splice	c.e1+1	p.K104_splice	BACE2_uc002yyx.3_Splice_Site_p.K104_splice|BACE2_uc002yyy.3_Splice_Site_p.K104_splice	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	Homo sapiens beta-site APP-cleaving enzyme 2 (BACE2), transcript variant a, mRNA.	104					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	Golgi apparatus|cell surface|endoplasmic reticulum|endosome|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CCCGCAGAAGGTAGGGACCCC	0.692000														5			6		0	0	0.003080	0	0
CDH9	1007	broad.mit.edu	37	5	26915930	26915930	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:26915930G>A	uc003jgs.1	-	2	500	c.331C>T	c.(331-333)Cat>Tat	p.H111Y	CDH9_uc010iug.3_Missense_Mutation_p.H111Y	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	111	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTGCAGCATGAATGTCTCCT	0.413000														98			62		0	0	0.014410	0	0
ACTN1	87	broad.mit.edu	37	14	69369207	69369207	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:69369207G>A	uc001xkl.3	-	7	1059	c.749C>T	c.(748-750)tCt>tTt	p.S250F	ACTN1_uc010ttb.2_Missense_Mutation_p.S185F|ACTN1_uc001xkm.3_Missense_Mutation_p.S250F|ACTN1_uc001xkn.3_Missense_Mutation_p.S250F|ACTN1_uc001xko.1_Missense_Mutation_p.S185F|ACTN1_uc010ttd.1_Missense_Mutation_p.S229F	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	250					focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTGGGCTCCAGAGAAGGCGTG	0.577000														97			44		0	0	0.014410	0	0
ITGB3	3690	broad.mit.edu	37	17	45361894	45361894	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:45361894C>T	uc002ilj.3	+	3	467	c.447C>T	c.(445-447)tcC>tcT	p.S149S	ITGB3_uc002ili.1_Silent_p.S149S|ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	149	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	TGTCTTACTCCATGAAGGATG	0.517000														81			24		0	0	0.003330	0	0
PRF1	5551	broad.mit.edu	37	10	72358730	72358730	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:72358730G>A	uc009xqg.3	-	2	908	c.747C>T	c.(745-747)ctC>ctT	p.L249L	PRF1_uc001jrf.4_Silent_p.L249L	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	249	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CGTTGTCCGTGAGCCCTTCCA	0.637000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis					30			29		0	0	0.010818	0	0
NRXN1	9378	broad.mit.edu	37	2	50724786	50724786	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	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														41			14		0	0	0.003163	0	0
TMEM206	55248	broad.mit.edu	37	1	212538573	212538573	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:212538573G>T	uc010pte.2	-	8	1388	c.1220C>A	c.(1219-1221)aCg>aAg	p.T407K	TMEM206_uc001hjc.4_Missense_Mutation_p.T346K	NM_001198862	NP_001185791	Q9H813	TM206_HUMAN	Homo sapiens transmembrane protein 206 (TMEM206), transcript variant 1, mRNA.	346						integral to membrane		p.T346M(1)		breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		TATGTGGCTCGTTGCCTGACC	0.413000														66			47		1.32667e-27	1.48091e-27	0.014410	1	0
ACSM2B	348158	broad.mit.edu	37	16	20548646	20548646	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:20548646C>T	uc002dhj.4	-	14	1878	c.1668G>A	c.(1666-1668)ggG>ggA	p.G556G	ACSM2B_uc002dhk.4_Silent_p.G556G	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	556					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding	p.G556W(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GTTGAATTTTCCCTGTGACAG	0.473000														133			42		0	0	0.006999	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515810	47515810	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:47515810G>A	uc001cqt.3	+	11	1744	c.1494G>A	c.(1492-1494)ggG>ggA	p.G498G	CYP4X1_uc001cqr.3_Silent_p.G497G|CYP4X1_uc001cqs.3_Silent_p.G433G	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	498						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CCAAGAATGGGATGTATTTGC	0.418000														65			28		0	0	0.006320	0	0
E2F7	144455	broad.mit.edu	37	12	77417955	77417955	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:77417955G>A	uc001sym.4	-	12	2812	c.2576C>T	c.(2575-2577)cCa>cTa	p.P859L	E2F7_uc009zse.3_Silent_p.S204S	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	Homo sapiens E2F transcription factor 7 (E2F7), mRNA.	859					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GGGGGTCACTGGAACTGGTGA	0.458000														31			9		0	0	0.008291	0	0
CACNA1E	777	broad.mit.edu	37	1	181745302	181745302	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:181745302C>T	uc009wxt.3	+	37	5400	c.5205C>T	c.(5203-5205)atC>atT	p.I1735I	CACNA1E_uc001gow.3_Silent_p.I1735I|CACNA1E_uc009wxs.3_Silent_p.I1716I|CACNA1E_uc001gox.1_Silent_p.I961I	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1735					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.I1735I(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACTCCTCCATCCTGGGGCCTC	0.607000														97			62		0	0	0.014410	0	0
TAS1R2	80834	broad.mit.edu	37	1	19181355	19181355	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:19181355C>T	uc001bba.1	-	2	610	c.609G>A	c.(607-609)tgG>tgA	p.W203*		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	203					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.R202C(1)|p.W203R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGATCCAGTTCCAGCGGAAGT	0.642000														10			12		0	0	0.010729	0	0
TRIML2	205860	broad.mit.edu	37	4	189012773	189012773	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:189012773G>A	uc011cle.1	-	7	1365	c.1143C>T	c.(1141-1143)ccC>ccT	p.P381P	TRIML2_uc003izj.1_Silent_p.P134P|TRIML2_uc003izk.1_Silent_p.P114P|TRIML2_uc003izl.2_Silent_p.P306P	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	306							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TTTTCAGAGGGGGGAAGACCC	0.557000														137			75		0	0	0.014410	0	0
PRSS58	136541	broad.mit.edu	37	7	141955085	141955085	+	Missense_Mutation	SNP	C	T	T	rs147205406		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:141955085C>T	uc003vxb.3	-	2	546	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	PRSS58_uc003vxc.4_Missense_Mutation_p.E76K	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	76	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						AGATGCTTTTCATTAGAGTCT	0.408000														68			34		0	0	0.013726	0	0
ADD2	119	broad.mit.edu	37	2	70917918	70917918	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:70917918C>T	uc021vjc.1	-	8	1114	c.849_splice	c.e8+1	p.K283_splice	ADD2_uc010fds.2_Splice_Site|ADD2_uc002sgy.3_Splice_Site_p.K283_splice|ADD2_uc002sgz.3_Splice_Site_p.K283_splice|ADD2_uc010fdt.2_Splice_Site_p.K283_splice|ADD2_uc002shc.2_Splice_Site_p.K283_splice|ADD2_uc010fdu.2_Splice_Site_p.K299_splice	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	283					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CTAAGCTAACCTTGCAGGTGG	0.488000														43			35		0	0	0.004878	0	0
SCG2	7857	broad.mit.edu	37	2	224462184	224462184	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:224462184C>T	uc021vxk.1	-	0	1817	c.1817G>A	c.(1816-1818)aGg>aAg	p.R606K	SCG2_uc002vnm.3_Missense_Mutation_p.R606K	NM_003469	NP_003460	P13521	SCG2_HUMAN	Homo sapiens secretogranin II (SCG2), mRNA.	606					MAPKKK cascade|angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		AATATGCTCCCTTCCCTTTTC	0.423000														88			8		0	0	0.004482	0	0
WT1-AS	51352	broad.mit.edu	37	11	32460385	32460385	+	RNA	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:32460385G>A	uc021qfr.1	+	0		c.911G>A			WT1-AS_uc010rec.2_Non-coding_Transcript|WT1-AS_uc010red.2_Non-coding_Transcript					Homo sapiens Wilms tumor upstream neighbor 1, mRNA (cDNA clone IMAGE:3633024).											endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						cgtccagttggaggttttacc	0.498000														10			13		0	0	0.013537	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182498	57182498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:57182498C>T	uc003hbk.2	+	7	3221	c.2830C>T	c.(2830-2832)Ccg>Tcg	p.P944S	KIAA1211_uc010iha.2_Missense_Mutation_p.P937S|KIAA1211_uc011bzz.1_Missense_Mutation_p.P854S|KIAA1211_uc003hbm.1_Missense_Mutation_p.P830S	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	944	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)					CAGCCAGACCCCGGCTCCGGA	0.652000														35			10		0	0	0.008291	0	0
ALPI	248	broad.mit.edu	37	2	233322730	233322730	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:233322730G>A	uc002vst.4	+	7	956	c.879G>A	c.(877-879)acG>acA	p.T293T	ALPI_uc002vsu.4_Silent_p.T204T	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	293					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCGGAGACACGAAATATGAGA	0.622000														28			28		0	0	0.006320	0	0
ZNF582	147948	broad.mit.edu	37	19	56895388	56895388	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:56895388G>A	uc002qmy.3	-	4	1784	c.1491C>T	c.(1489-1491)acC>acT	p.T497T	ZNF582_uc002qmz.1_Silent_p.T466T	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	Homo sapiens zinc finger protein 582 (ZNF582), mRNA.	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GAGGTTGAACGGTAGTTGAAT	0.363000														86			47		0	0	0.014410	0	0
NDST4	64579	broad.mit.edu	37	4	115997281	115997281	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:115997281G>A	uc003ibu.3	-	1	1591	c.912C>T	c.(910-912)atC>atT	p.I304I	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	304	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGTCCACAAGGATGTACCTGT	0.403000														71			17		0	0	0.004990	0	0
YIF1B	90522	broad.mit.edu	37	19	38799966	38799966	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:38799966G>A	uc002ohz.2	-	2	349	c.300C>T	c.(298-300)atC>atT	p.I100I	YIF1B_uc002ohw.2_Silent_p.I69I|YIF1B_uc002ohx.2_Silent_p.I85I|YIF1B_uc010xtx.1_Silent_p.I83I|YIF1B_uc010xty.1_Silent_p.I69I|YIF1B_uc002oia.2_Silent_p.I97I|YIF1B_uc002ohy.2_Silent_p.I97I|YIF1B_uc002oib.3_Silent_p.I97I	NM_001039672	NP_001034761	Q5BJH7	YIF1B_HUMAN	Homo sapiens Yip1 interacting factor homolog B (S. cerevisiae) (YIF1B), transcript variant 5, mRNA.	100						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGAAGCGGTCGATCTGGGGAG	0.587000														83			45		0	0	0.011902	0	0
DCLK3	85443	broad.mit.edu	37	3	36780021	36780021	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:36780021A>G	uc003cgi.2	-	1	621	c.130T>C	c.(130-132)Ttt>Ctt	p.F44L		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	44						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GCCTTGCTAAACAGCCTGCTC	0.612000														72			35		0	0	0.003755	0	0
DMBT1	1755	broad.mit.edu	37	10	124399865	124399865	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:124399865C>T	uc001lgk.1	+	51	6971	c.6865C>T	c.(6865-6867)Ctc>Ttc	p.L2289F	DMBT1_uc001lgl.1_Missense_Mutation_p.L2279F|DMBT1_uc001lgm.1_Missense_Mutation_p.L1661F|DMBT1_uc021qaf.1_Missense_Mutation_p.L2289F|DMBT1_uc021qag.1_Missense_Mutation_p.L2279F|DMBT1_uc021qah.1_Missense_Mutation_p.L1661F|DMBT1_uc009xzz.1_Missense_Mutation_p.L2288F|DMBT1_uc010qtx.1_Missense_Mutation_p.L1009F|DMBT1_uc009yab.1_Missense_Mutation_p.L992F|DMBT1_uc009yac.1_Missense_Mutation_p.L583F	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2289	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.L2289L(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGCTGAAATCCTCCATTCTGA	0.468000														46			12		0	0	0.010729	0	0
NCOA6	23054	broad.mit.edu	37	20	33356387	33356387	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:33356387C>T	uc002xav.3	-	5	2965	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	NCOA6_uc002xaw.3_Missense_Mutation_p.E132K|NCOA6_uc021wcd.1_Missense_Mutation_p.E132K|NCOA6_uc021wce.1_Missense_Mutation_p.E132K|NCOA6_uc021wcf.1_Missense_Mutation_p.E132K|NCOA6_uc010gew.1_Missense_Mutation_p.E132K	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	132	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ATAGCACCTTCCCCTGAAAAT	0.393000														75			28		0	0	0.008361	0	0
DSEL	92126	broad.mit.edu	37	18	65180536	65180536	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:65180536G>A	uc002lke.1	-	1	2564	c.1340C>T	c.(1339-1341)tCt>tTt	p.S447F	DSEL_uc021ulg.1_Missense_Mutation_p.S447F	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	437						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CAGCTTCCCAGATTTAAAAGA	0.458000														28			12		0	0	0.013537	0	0
FAM135B	51059	broad.mit.edu	37	8	139255192	139255192	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:139255192G>A	uc003yuy.3	-	6	833	c.662C>T	c.(661-663)tCc>tTc	p.S221F	FAM135B_uc003yux.3_Missense_Mutation_p.S122F|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	221										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)			TACCTCTGAGGAAGTCGGCTT	0.473000										HNSCC(54;0.14)				63			19		0	0	0.003954	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943183	12943183	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:12943183G>A	uc001aun.2	-	1	104	c.33C>T	c.(31-33)ctC>ctT	p.L11L		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	11										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGCTCCAGGAGTCTGGGTG	0.567000														261			37		0	0	0.008740	0	0
C12orf50	160419	broad.mit.edu	37	12	88391931	88391931	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:88391931G>A	uc001tam.1	-	3	338	c.170C>T	c.(169-171)cCa>cTa	p.P57L	C12orf50_uc001tan.3_Missense_Mutation_p.P111L	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	57										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						GGACTGGAGTGGAATTCCTTC	0.368000														14			8		0	0	0.008291	0	0
PDE1A	5136	broad.mit.edu	37	2	183070702	183070702	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:183070702C>T	uc002uos.3	-	8	999	c.915G>A	c.(913-915)atG>atA	p.M305I	PDE1A_uc010zfp.1_Missense_Mutation_p.M201I|PDE1A_uc002uoq.1_Missense_Mutation_p.M305I|PDE1A_uc010zfq.1_Missense_Mutation_p.M305I|PDE1A_uc002uor.3_Missense_Mutation_p.M289I|PDE1A_uc002uou.3_Missense_Mutation_p.M271I	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	305	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.M305I(3)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TCAAGATATTCATTTCTTCTT	0.343000														29			9		0	0	0.006214	0	0
ZNF107	51427	broad.mit.edu	37	7	64168604	64168604	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:64168604G>A	uc003ttd.3	+	6	2708	c.1922G>A	c.(1921-1923)tGt>tAt	p.C641Y	ZNF107_uc003tte.3_Missense_Mutation_p.C641Y	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA.	641					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TGTGCAGAATGTGGCAAAGCC	0.363000														27			29		0	0	0.007291	0	0
USP19	10869	broad.mit.edu	37	3	49148460	49148460	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:49148460G>A	uc003cwd.2	-	21	3478	c.3159C>T	c.(3157-3159)gcC>gcT	p.A1053A	USP19_uc003cwa.3_Silent_p.A861A|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_Silent_p.A1156A|USP19_uc011bcg.2_Silent_p.A1144A|USP19_uc003cwc.2_Silent_p.A811A|USP19_uc011bch.2_Silent_p.A1154A	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	1053					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.R1052G(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGCCGGCCCGGGCAGCCTCAC	0.617000														56			27		0	0	0.005443	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478439	14478439	+	RNA	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:14478439C>T	uc010xai.2	-	2		c.1125G>A								Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA.																		TCCCTGATATCGTGATGAACT	0.448000														2			5		0	0	0.001984	0	0
ODZ1	10178	broad.mit.edu	37	X	124097411	124097411	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:124097411C>T	uc010nqy.3	-	0	256	c.192G>A	c.(190-192)agG>agA	p.R64R	ODZ1_uc011muj.2_Silent_p.R64R|ODZ1_uc004euj.3_Silent_p.R64R	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	64	Teneurin N-terminal.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CTACTTCTTTCCTCTTTCTAC	0.358000														50			97		0	0	0.014410	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187934	37187934	+	RNA	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:37187934C>T	uc002hrd.1	+	0		c.1776C>T								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		CCTTTTCCAACCATGCAGAAG	0.488000														26			8		0	0	0.003080	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2408447	2408447	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:2408447C>T	uc010xgx.2	+	6	834	c.834C>T	c.(832-834)atC>atT	p.I278I	TMPRSS9_uc002lvv.1_Silent_p.I312I	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	278	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		TGGTCCAGATCGTCAAGCACC	0.667000														58			31		0	0	0.003271	0	0
CCDC94	55702	broad.mit.edu	37	19	4249240	4249240	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:4249240G>A	uc002lzv.4	+	1	73	c.40G>A	c.(40-42)Gac>Aac	p.D14N		NM_018074	NP_060544	Q9BW85	CCD94_HUMAN	Homo sapiens coiled-coil domain containing 94 (CCDC94), mRNA.	14										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		CTACCCGCCGGACTTTGACCC	0.587000														29			17		0	0	0.004990	0	0
TLE2	7089	broad.mit.edu	37	19	3005910	3005910	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:3005910G>A	uc010dth.3	-	15	1823	c.1560C>T	c.(1558-1560)atC>atT	p.I520I	TLE2_uc010xhb.2_Silent_p.I186I|TLE2_uc002lww.3_Silent_p.I519I|TLE2_uc010xhc.2_Silent_p.I397I|TLE2_uc010dti.3_Silent_p.I533I	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	519					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		CACCGCCCACGATCAGACTCC	0.652000														42			32		0	0	0.010818	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30863305	30863305	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:30863305G>A	uc001rji.1	-	17	3666	c.2915C>T	c.(2914-2916)cCt>cTt	p.P972L	CAPRIN2_uc001rjf.1_3'UTR|CAPRIN2_uc001rjg.1_Missense_Mutation_p.P639L|CAPRIN2_uc001rjh.1_Missense_Mutation_p.P922L|CAPRIN2_uc001rjk.4_3'UTR|CAPRIN2_uc001rjj.1_Missense_Mutation_p.P638L|CAPRIN2_uc001rjl.4_3'UTR	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA.	972					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	RNA binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CACATCCACAGGGGTCATGCT	0.547000														214			109		0	0	0.014410	0	0
PTPRT	11122	broad.mit.edu	37	20	41408905	41408905	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:41408905G>A	uc002xkg.3	-	3	705	c.521C>T	c.(520-522)cCt>cTt	p.P174L	PTPRT_uc010ggj.3_Missense_Mutation_p.P174L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	174	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.H173Y(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)				GATGTAGCCAGGATGACCCTT	0.522000														61			27		0	0	0.008361	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86863241	86863241	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:86863241G>A	uc003hpk.3	+	4	863	c.414G>A	c.(412-414)gaG>gaA	p.E138E	ARHGAP24_uc003hpj.3_Silent_p.E138E|ARHGAP24_uc003hpl.3_Silent_p.E43E|ARHGAP24_uc010ikf.3_Silent_p.E53E|ARHGAP24_uc003hpm.3_Silent_p.E45E	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	138	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AGAAACTGGAGGATACTGTTC	0.413000														30			15		0	0	0.004990	0	0
NLRP10	338322	broad.mit.edu	37	11	7981739	7981739	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:7981739G>A	uc001mfv.1	-	1	1437	c.1420C>T	c.(1420-1422)Cat>Tat	p.H474Y		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	474	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACATGGCATGAAAAAAGTCC	0.532000														72			50		0	0	0.014410	0	0
RPTOR	57521	broad.mit.edu	37	17	78858875	78858875	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:78858875C>T	uc002jyt.1	+	16	2715	c.1910C>T	c.(1909-1911)tCc>tTc	p.S637F	RPTOR_uc010wug.1_Intron	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	637					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						ACGGACCACTCCACCACCATC	0.682000														9			10		0	0	0.010729	0	0
GLDN	342035	broad.mit.edu	37	15	51687123	51687123	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:51687123G>A	uc002aba.3	+	4	802	c.633G>A	c.(631-633)ggG>ggA	p.G211G	GLDN_uc002abb.3_Silent_p.G87G	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	Homo sapiens gliomedin (GLDN), mRNA.	211	Collagen-like 2.				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)		GCCCACCAGGGCAGAAGGGAG	0.577000														37			9		0	0	0.008291	0	0
SYN3	8224	broad.mit.edu	37	22	32909799	32909800	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:32909799_32909800GG>AC	uc003amx.3	-	12	1784_1785	c.1622_1623CC>GT	c.(1621-1623)tcc>tGT	p.S541C	SYN3_uc003amy.3_Missense_Mutation_p.P444V|SYN3_uc003amz.3_Missense_Mutation_p.S540C	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	541	E.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TGTTAGTCAGGGACTGAGATTT	0.540000														59			23		0	0	0.004672	0	0
AADACL4	343066	broad.mit.edu	37	1	12704613	12704613	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:12704613C>T	uc001auf.3	+	0	48	c.48C>T	c.(46-48)ttC>ttT	p.F16F		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	16						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|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;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CCATCTTTTTCCTGGGGGTCT	0.532000														112			57		0	0	0.014410	0	0
FOXR2	139628	broad.mit.edu	37	X	55650332	55650332	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:55650332G>A	uc004duo.3	+	0	500	c.188G>A	c.(187-189)aGg>aAg	p.R63K		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	63					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CCTCAGAAGAGGAGACCCAGT	0.537000														20			18		0	0	0.010504	0	0
RBBP8	5932	broad.mit.edu	37	18	20564881	20564881	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:20564881C>T	uc002kua.3	+	7	760	c.637C>T	c.(637-639)Cca>Tca	p.P213S	RBBP8_uc002ktw.3_Missense_Mutation_p.P213S|RBBP8_uc002kty.3_Missense_Mutation_p.P213S|RBBP8_uc002ktz.3_Missense_Mutation_p.P213S|RBBP8_uc002ktx.1_Missense_Mutation_p.P213S	NM_203291	NP_976036	Q99708	COM1_HUMAN	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.	213					DNA double-strand break processing involved in repair via single-strand annealing|cell cycle checkpoint|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	p.H212Y(1)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TTCAACTCATCCACAACATAA	0.313000								Homologous recombination						49			20		0	0	0.010504	0	0
FIGN	55137	broad.mit.edu	37	2	164466984	164466984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:164466984G>A	uc002uck.1	-	2	1669	c.1358C>T	c.(1357-1359)tCc>tTc	p.S453F		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	453						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AGAGTGGTTGGATGAGGTAGC	0.542000														39			14		0	0	0.001855	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516390	140516390	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140516390C>T	uc003liq.3	+	0	1591	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	458	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTCGTCCGAGAGA	0.617000														82			62		0	0	0.014410	0	0
PXDNL	137902	broad.mit.edu	37	8	52359682	52359682	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:52359682G>A	uc003xqu.4	-	11	1508	c.1407C>T	c.(1405-1407)tcC>tcT	p.S469S		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	469	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)				AAGTGCCAGAGGAGAGAACTG	0.512000														89			53		0	0	0.014410	0	0
ABCB5	340273	broad.mit.edu	37	7	20721179	20721179	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:20721179C>T	uc010kuh.3	+	14	1996	c.1759C>T	c.(1759-1761)Cga>Tga	p.R587*	ABCB5_uc003suw.4_Nonsense_Mutation_p.R142*	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	142	ABC transporter 2.				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			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						TTCTACTATTCGAAGTGCAGA	0.398000														35			20		0	0	0.008871	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766990	77766990	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:77766990G>A	uc003yau.2	+	9	8220	c.7833G>A	c.(7831-7833)acG>acA	p.T2611T	ZFHX4_uc003yaw.1_Silent_p.T2566T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2566						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L2610L(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGAGAACCACGATCACCCCGG	0.423000										HNSCC(33;0.089)				22			14		0	0	0.003163	0	0
FREM2	341640	broad.mit.edu	37	13	39452969	39452969	+	Splice_Site	SNP	A	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:39452969A>C	uc001uwv.3	+	23	9169	c.8860_splice	c.e23-1	p.D2954_splice		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2954					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)		TGCTTAAAGGACAAAGCTCAG	0.423000														45			23		0	0	0.002780	0	0
MYO15A	51168	broad.mit.edu	37	17	18059562	18059562	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:18059562A>G	uc021trm.1	+	46	8732	c.8513A>G	c.(8512-8514)aAc>aGc	p.N2838S	MYO15A_uc021trl.1_Missense_Mutation_p.N2836S|MYO15A_uc010vxi.2_Missense_Mutation_p.N102S|MYO15A_uc010vxj.1_Missense_Mutation_p.N37S|MYO15A_uc010vxk.1_Intron|MYO15A_uc010vxl.1_5'Flank|MYO15A_uc002gsl.3_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2838	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTGGAGTTCAACCTGGCCAGT	0.562000														15			27		0	0	0.009535	0	0
HCN1	348980	broad.mit.edu	37	5	45262407	45262407	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:45262407C>T	uc003jok.3	-	7	2314	c.2289G>A	c.(2287-2289)ccG>ccA	p.P763P		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	763						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTTCATTTTTCGGCGTGGAGC	0.652000														43			9		0	0	0.004482	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188579	32188579	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:32188579C>T	uc003obb.3	-	4	1015	c.876G>A	c.(874-876)caG>caA	p.Q292Q	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Silent_p.Q292Q	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	292	EGF-like 7; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CCAGCCCATCCTGGCAAGTGC	0.562000														174			75		0	0	0.014410	0	0
ATP13A4	84239	broad.mit.edu	37	3	193166037	193166037	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:193166037C>T	uc003ftd.3	-	17	2218	c.2110G>A	c.(2110-2112)Gaa>Aaa	p.E704K	ATP13A4_uc003fte.1_Missense_Mutation_p.E704K|ATP13A4_uc011bsr.1_Missense_Mutation_p.E175K|ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	704					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)		ATGAGCTCTTCCAAGACAGGT	0.403000														58			18		0	0	0.007413	0	0
DNAH1	25981	broad.mit.edu	37	3	52407021	52407021	+	Silent	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:52407021T>C	uc011bef.2	+	43	7198	c.6937T>C	c.(6937-6939)Ttg>Ctg	p.L2313L		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2313	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CATCGAGCTGTTGCGCCAGTG	0.612000														23			22		0	0	0.014323	0	0
INADL	10207	broad.mit.edu	37	1	62349916	62349916	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:62349916C>T	uc001dab.3	+	21	3081	c.2967C>T	c.(2965-2967)atC>atT	p.I989I	INADL_uc009waf.1_Silent_p.I989I|INADL_uc001daa.2_Silent_p.I989I|INADL_uc001dad.3_Silent_p.I686I|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	989					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CAGGCATGATCCCGAATGATG	0.473000														70			49		0	0	0.014410	0	0
RNF213	57674	broad.mit.edu	37	17	78358865	78358865	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:78358865C>A	uc002jyh.2	+	60	14639	c.14496C>A	c.(14494-14496)ttC>ttA	p.F4832L	RNF213_uc021uen.1_Missense_Mutation_p.F4783L|LOC100294362_uc002jyi.2_Intron|RNF213_uc010dhx.2_5'Flank	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)			TGGTAAAGTTCCTGCCTGAGA	0.453000														45			23		1.64293e-13	1.82543e-13	0.003330	1	0
SLC7A11	23657	broad.mit.edu	37	4	139100404	139100404	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:139100404C>T	uc021xrw.1	-	10	1691	c.1411G>A	c.(1411-1413)Gac>Aac	p.D471N		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.	471					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)	GGTTTCTTGTCCCATATAATA	0.418000														50			31		0	0	0.013726	0	0
PRG4	10216	broad.mit.edu	37	1	186276693	186276693	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:186276693G>A	uc001gru.4	+	6	1893	c.1842G>A	c.(1840-1842)aaG>aaA	p.K614K	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.K573K|PRG4_uc009wyl.3_Silent_p.K521K|PRG4_uc009wym.3_Silent_p.K480K|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	614	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCCAAGGAGACTGCAC	0.662000														11			6		0	0	0.006214	0	0
LRP12	29967	broad.mit.edu	37	8	105511596	105511596	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:105511596G>A	uc003yma.3	-	3	551	c.424C>T	c.(424-426)Cat>Tat	p.H142Y	LRP12_uc003ymb.3_Missense_Mutation_p.H123Y	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	142	CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCATCCGAATGAAACCTAATC	0.348000														72			34		0	0	0.004878	0	0
SPEN	23013	broad.mit.edu	37	1	16257460	16257460	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:16257460C>T	uc001axk.1	+	10	4929	c.4725C>T	c.(4723-4725)tcC>tcT	p.S1575S	SPEN_uc010obp.1_Silent_p.S1534S	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1575					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAACTGATTCCATTCAAGAAC	0.423000														33			21		0	0	0.008871	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16535405	16535405	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:16535405C>T	uc001ayc.1	-	1	282	c.145G>A	c.(145-147)Gac>Aac	p.D49N	ARHGEF19_uc009voo.1_5'Flank	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 19 (ARHGEF19), mRNA.	49					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|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;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGGAAAAGGTCCAGACACACT	0.657000														26			17		0	0	0.007413	0	0
MICAL2	9645	broad.mit.edu	37	11	12270770	12270770	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:12270770C>T	uc001mjz.3	+	21	3112	c.2824C>T	c.(2824-2826)Cat>Tat	p.H942Y	MICAL2_uc010rch.1_Missense_Mutation_p.H752Y|MICAL2_uc001mka.3_Missense_Mutation_p.H942Y|MICAL2_uc010rci.2_Intron|MICAL2_uc001mkb.3_Missense_Mutation_p.H752Y|MICAL2_uc001mkc.3_Intron|MICAL2_uc001mkd.3_Intron|MICAL2_uc010rcj.2_Missense_Mutation_p.H154Y|MICAL2_uc001mkf.3_Intron	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	942						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		tcatcccagccatttgagaac	0.473000														25			21		0	0	0.012319	0	0
EDN3	1908	broad.mit.edu	37	20	57876712	57876712	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:57876712C>T	uc002yap.3	+	1	669	c.300C>T	c.(298-300)ttC>ttT	p.F100F	EDN3_uc002yao.1_Silent_p.F100F|EDN3_uc002yaq.3_Silent_p.F100F|EDN3_uc002yar.3_Silent_p.F100F|EDN3_uc002yas.3_Silent_p.F100F	NM_000114	NP_996917	P14138	EDN3_HUMAN	Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA.	100					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of MAP kinase activity|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					GCACGTGCTTCACCTACAAGG	0.612000														95			58		0	0	0.014410	0	0
ATXN2L	11273	broad.mit.edu	37	16	28842057	28842057	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:28842057C>T	uc002dqy.3	+	8	1323	c.1156C>T	c.(1156-1158)Cat>Tat	p.H386Y	NPIPL1_uc010vct.2_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.H386Y|ATXN2L_uc002dqz.3_Missense_Mutation_p.H386Y|ATXN2L_uc002dra.3_Missense_Mutation_p.H386Y|ATXN2L_uc002drb.3_Missense_Mutation_p.H386Y|ATXN2L_uc002drc.3_Missense_Mutation_p.H386Y|ATXN2L_uc010vdb.2_Missense_Mutation_p.H386Y|ATXN2L_uc002dre.3_Missense_Mutation_p.H386Y|ATXN2L_uc002drf.3_5'UTR	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	386						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGGCCCTCACCATCTGGACAA	0.627000														17			18		0	0	0.006122	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47115560	47115560	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:47115560G>A	uc002iom.3	+	5	766	c.432G>A	c.(430-432)ttG>ttA	p.L144L	IGF2BP1_uc010dbj.3_Intron	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	144	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						GCCACCAGTTGGAGAACCATG	0.567000														57			41		0	0	0.007835	0	0
CPS1	1373	broad.mit.edu	37	2	211471586	211471586	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:211471586C>T	uc010fur.3	+	18	2213	c.2131C>T	c.(2131-2133)Cct>Tct	p.P711S	CPS1_uc002vee.4_Missense_Mutation_p.P705S|CPS1_uc010fus.3_Missense_Mutation_p.P254S	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	705	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGCCCTTCATCCTACCTCAAT	0.468000														43			8		0	0	0.003080	0	0
IRX1	79192	broad.mit.edu	37	5	3599663	3599663	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:3599663G>A	uc003jde.3	+	1	653	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	201						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAAGGACCAGGAAGATGGAGC	0.622000														43			19		0	0	0.006122	0	0
WDPCP	51057	broad.mit.edu	37	2	63380059	63380059	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:63380059C>T	uc002sch.3	-	16	2642	c.2180G>A	c.(2179-2181)gGc>gAc	p.G727D	WDPCP_uc002sce.3_Non-coding_Transcript|WDPCP_uc002scf.3_Missense_Mutation_p.G568D|WDPCP_uc010ypu.2_Non-coding_Transcript|WDPCP_uc002scg.3_Missense_Mutation_p.G535D	NM_015910	NP_056994	O95876	FRITZ_HUMAN	Homo sapiens WD repeat containing planar cell polarity effector (WDPCP), mRNA.	727					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		p.G727V(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CTGTTCTCTGCCGTCTTCTCT	0.274000														24			14		0	0	0.004990	0	0
ST18	9705	broad.mit.edu	37	8	53071457	53071457	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:53071457C>T	uc003xqz.2	-	10	1962	c.1806_splice	c.e10+1	p.K602_splice	ST18_uc011ldq.1_Splice_Site_p.K249_splice|ST18_uc011ldr.1_Splice_Site_p.K567_splice|ST18_uc011lds.1_Splice_Site_p.K507_splice|ST18_uc003xra.2_Splice_Site_p.K602_splice|ST18_uc003xrb.2_Splice_Site_p.K602_splice	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	602						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)				GACTGGCCTACCTTGGCATGC	0.557000														80			54		0	0	0.014410	0	0
FBXL5	26234	broad.mit.edu	37	4	15607372	15607372	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:15607372G>A	uc003goc.2	-	10	2175	c.2050C>T	c.(2050-2052)Cga>Tga	p.R684*	FBXL5_uc010idw.2_Nonsense_Mutation_p.R597*|FBXL5_uc003gob.2_Nonsense_Mutation_p.R546*|FBXL5_uc010idx.2_Nonsense_Mutation_p.R683*|FBXL5_uc003god.2_Nonsense_Mutation_p.R667*	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 5 (FBXL5), transcript variant 1, mRNA.	684					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|iron ion homeostasis	SCF ubiquitin ligase complex|perinuclear region of cytoplasm	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CAGCAGGCTCGAAAACCACAC	0.443000														38			15		0	0	0.004990	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558659	129558659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:129558659C>T	uc009zyl.1	-	8	3389	c.3061G>A	c.(3061-3063)Gga>Aga	p.G1021R	TMEM132D_uc001uia.2_Missense_Mutation_p.G559R	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	1021						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)		ATGATGGGTCCCAAAGGTTTG	0.458000														84			18		0	0	0.006122	0	0
OR10K2	391107	broad.mit.edu	37	1	158390183	158390183	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:158390183G>A	uc010pii.2	-	0	474	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	158					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)					AGGATGTGATGATCTGTGCAA	0.493000														34			26		0	0	0.003954	0	0
NMBR	4829	broad.mit.edu	37	6	142409430	142409430	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:142409430G>A	uc003qiu.3	-	0	507	c.366C>T	c.(364-366)atC>atT	p.I122I		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	122					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		AAGTGAGCTGGATGACAGGGA	0.587000														32			22		0	0	0.014323	0	0
FAM55D	54827	broad.mit.edu	37	11	114453477	114453477	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:114453477C>T	uc001ppc.3	-	2	544	c.363G>A	c.(361-363)ctG>ctA	p.L121L	FAM55D_uc001ppd.3_5'UTR	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	121						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		CCCTCACCTCCAGCAGGATGT	0.597000														24			28		0	0	0.005443	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145726099	145726100	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:145726099_145726100GG>AA	uc003zdd.3	+	7	1775_1776	c.862_863GG>AA	c.(862-864)ggg>AAg	p.G288K	AK094577_uc003zde.1_5'Flank|PPP1R16A_uc003zdf.3_Missense_Mutation_p.G288K	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16A (PPP1R16A), mRNA.	288						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CGTGGCGCACGGGGCCGACCTG	0.723000														24			22		0	0	0.004672	0	0
LAMA1	284217	broad.mit.edu	37	18	6971939	6971939	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:6971939C>T	uc002knm.3	-	47	6910	c.6816G>A	c.(6814-6816)ttG>ttA	p.L2272L	LAMA1_uc010wzj.2_Silent_p.L1748L	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2272	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGCCTCCCCCAAGCAGCCTT	0.433000														41			6		0	0	0.001984	0	0
MOV10	4343	broad.mit.edu	37	1	113234343	113234343	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:113234343C>T	uc001eck.3	+	5	1163	c.893C>T	c.(892-894)cCc>cTc	p.P298L	MOV10_uc001ecl.2_Missense_Mutation_p.P298L|MOV10_uc001ecn.3_Missense_Mutation_p.P298L|MOV10_uc001ecm.3_Missense_Mutation_p.P238L|MOV10_uc009wgj.1_Missense_Mutation_p.P238L	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	298					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TACCCACCTCCCCGCCTCAGG	0.547000														31			40		0	0	0.006999	0	0
STRA6	64220	broad.mit.edu	37	15	74474685	74474685	+	Splice_Site	SNP	A	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:74474685A>C	uc002axj.3	-	15	1895	c.1535_splice	c.e15+1	p.W512_splice	STRA6_uc002axi.3_Splice_Site_p.W282_splice|STRA6_uc010ulh.2_Splice_Site_p.W511_splice|STRA6_uc002axk.3_Splice_Site_p.W473_splice|STRA6_uc002axl.3_Splice_Site_p.W405_splice|STRA6_uc010bji.3_Splice_Site_p.W473_splice|STRA6_uc021sqg.1_Splice_Site_p.W488_splice|STRA6_uc002axm.3_Splice_Site_p.W473_splice|STRA6_uc002axn.3_Splice_Site_p.W464_splice|STRA6_uc010uli.2_Splice_Site_p.W510_splice|STRA6_uc010bjj.1_Splice_Site	NM_001199042	NP_001185971	Q9BX79	STRA6_HUMAN	Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA.	473					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						TTCACTCACCACGAGGACTCC	0.602000														26			15		0	0	0.003163	0	0
ZNF492	57615	broad.mit.edu	37	19	22847931	22847931	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:22847931A>C	uc002nqw.3	+	3	1704	c.1460A>C	c.(1459-1461)aAc>aCc	p.N487T		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AAAGCCTTTAACAACTCCTCT	0.378000														26			15		0	0	0.004007	0	0
UBXN2A	165324	broad.mit.edu	37	2	24222604	24222604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:24222604C>T	uc010exy.3	+	7	1115	c.647C>T	c.(646-648)tCc>tTc	p.S216F	UBXN2A_uc002rem.3_Non-coding_Transcript|UBXN2A_uc002ren.3_Missense_Mutation_p.S216F|UBXN2A_uc010ykj.2_Missense_Mutation_p.S163F	NM_181713	NP_859064	P68543	UBX2A_HUMAN	Homo sapiens UBX domain protein 2A (UBXN2A), mRNA.	216	UBX.									endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						CCTCCGTTTTCCCTGGCAACA	0.383000														40			45		0	0	0.014410	0	0
CASR	846	broad.mit.edu	37	3	122003081	122003081	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:122003081C>T	uc003eew.4	+	6	2748	c.2310C>T	c.(2308-2310)atC>atT	p.I770I	CASR_uc003eev.4_Silent_p.I760I	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	760					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.L770I(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGGATGAGATCATCTTCATCA	0.567000														15			17		0	0	0.006122	0	0
SEPT14	346288	broad.mit.edu	37	7	55912396	55912396	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:55912396C>T	uc003tqz.2	-	3	308	c.191G>A	c.(190-192)gGa>gAa	p.G64E		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	64					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGTCGATTTTCCAATTCCAGT	0.343000														26			8		0	0	0.003080	0	0
CDH2	1000	broad.mit.edu	37	18	25543453	25543453	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:25543453G>A	uc002kwg.2	-	14	2841	c.2382C>T	c.(2380-2382)gaC>gaT	p.D794D	CDH2_uc010xbn.1_Silent_p.D763D	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	794					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCTCCACAGTGTCAGGCTGCT	0.522000														27			6		0	0	0.001984	0	0
MUC4	4585	broad.mit.edu	37	3	195493586	195493586	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:195493586G>A	uc021xjp.1	-	7	13722	c.13566C>T	c.(13564-13566)tcC>tcT	p.S4522S	MUC4_uc003fuz.3_Intron|MUC4_uc003fva.3_Silent_p.S2S|MUC4_uc003fvb.3_Intron|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Intron|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Silent_p.S31S|MUC4_uc021xjn.1_Silent_p.S211S|MUC4_uc021xjo.1_Silent_p.S2S|MUC4_uc021xjg.1_Silent_p.S2S|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Silent_p.S86S|MUC4_uc021xjj.1_Silent_p.S86S|MUC4_uc021xjk.1_Silent_p.S263S|MUC4_uc021xjl.1_Silent_p.S2S|MUC4_uc003fvo.3_Silent_p.S286S|MUC4_uc003fvp.3_Silent_p.S235S	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1279					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACACTGGCTGGGACATCAGTG	0.552000														37			29		0	0	0.012213	0	0
LMTK2	22853	broad.mit.edu	37	7	97822775	97822775	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:97822775C>T	uc003upd.2	+	10	3291	c.2998C>T	c.(2998-3000)Ctg>Ttg	p.L1000L		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	1000					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCCGGACTCTCTGGAGTCAGT	0.597000														87			75		0	0	0.014410	0	0
EPHA6	285220	broad.mit.edu	37	3	96706570	96706570	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:96706570C>T	uc010how.1	+	2	890	c.847C>T	c.(847-849)Caa>Taa	p.Q283*	EPHA6_uc003drp.1_Nonsense_Mutation_p.Q283*	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	188						integral to plasma membrane	ATP binding|ephrin receptor activity	p.Q189E(4)|p.Q283E(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCTGGCTTTTCAAGACATTGG	0.458000														238			9		0	0	0.006214	0	0
HRNR	388697	broad.mit.edu	37	1	152191971	152191971	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:152191971C>T	uc001ezt.1	-	2	2210	c.2134G>A	c.(2134-2136)Ggt>Agt	p.G712S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	712					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTGTAACCAGAGGACTGC	0.552000														122			66		0	0	0.014410	0	0
MYCT1	80177	broad.mit.edu	37	6	153042887	153042887	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:153042887C>T	uc003qpc.4	+	1	215	c.207C>T	c.(205-207)atC>atT	p.I69I		NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	Homo sapiens myc target 1 (MYCT1), mRNA.	69						nucleus		p.L68H(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		AGGACCTTATCATGTCCTTCA	0.378000														64			30		0	0	0.012213	0	0
SCAF8	22828	broad.mit.edu	37	6	155148326	155148326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:155148326C>T	uc003qqa.3	+	18	2324	c.2092C>T	c.(2092-2094)Ccc>Tcc	p.P698S	SCAF8_uc011efj.2_Missense_Mutation_p.P764S|SCAF8_uc011efk.2_Missense_Mutation_p.P743S|SCAF8_uc003qpz.3_Missense_Mutation_p.P698S|SCAF8_uc010kji.3_Missense_Mutation_p.P719S	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	Homo sapiens SR-related CTD-associated factor 8 (SCAF8), mRNA.	698	Pro-rich.				RNA splicing|mRNA processing	nuclear matrix|spliceosomal complex	RNA binding|RNA polymerase core enzyme binding|nucleotide binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						GCCTCCAGTTCCCCCACCTGT	0.368000														101			57		0	0	0.014410	0	0
HSPA4L	22824	broad.mit.edu	37	4	128732671	128732671	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:128732671C>T	uc003ifm.3	+	11	1711	c.1458C>T	c.(1456-1458)atC>atT	p.I486I	HSPA4L_uc010iny.1_Silent_p.I445I|HSPA4L_uc011cgr.2_Silent_p.I453I	NM_014278	NP_055093	O95757	HS74L_HUMAN	Homo sapiens heat shock 70kDa protein 4-like (HSPA4L), mRNA.	486					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GTGTTAACATCCATGGAATCT	0.393000														46			23		0	0	0.003330	0	0
MUC16	94025	broad.mit.edu	37	19	9048058	9048058	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9048058C>T	uc002mkp.3	-	4	33777	c.33573G>A	c.(33571-33573)atG>atA	p.M11191I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11193	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						TGGCTGAAATCATCTTTGCCT	0.453000														22			20		0	0	0.007413	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43769915	43769915	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:43769915C>T	uc010skx.2	-	34	5257	c.5257G>A	c.(5257-5259)Gaa>Aaa	p.E1753K		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1753	GON.					proteinaceous extracellular matrix	zinc ion binding	p.L1753F(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTTAAATATTCCTTAGGGTTC	0.338000														14			3		0	0	0.004672	0	0
LMO7	4008	broad.mit.edu	37	13	76408439	76408439	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:76408439G>A	uc021rkq.1	+	16	3477	c.3142G>A	c.(3142-3144)Gat>Aat	p.D1048N	LMO7_uc010thv.2_Missense_Mutation_p.D766N|LMO7_uc001vjt.1_Missense_Mutation_p.D714N|LMO7_uc001vjv.3_Missense_Mutation_p.D815N|LMO7_uc010thw.2_Missense_Mutation_p.D665N|LMO7_uc001vjw.1_Missense_Mutation_p.D721N	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1100	PDZ.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTCATATAACGATTCAAAAGA	0.398000														79			41		0	0	0.006999	0	0
RIMS2	9699	broad.mit.edu	37	8	104943551	104943551	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:104943551G>A	uc003yls.3	+	9	1880	c.1639G>A	c.(1639-1641)Gat>Aat	p.D547N	RIMS2_uc003ylp.3_Missense_Mutation_p.D769N|RIMS2_uc003ylw.2_Missense_Mutation_p.D561N|RIMS2_uc003ylq.3_Missense_Mutation_p.D561N|RIMS2_uc003ylr.3_Missense_Mutation_p.D608N|RIMS2_uc003ylt.3_Missense_Mutation_p.D154N	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	831					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)			GGGAGCAAAAGATCTCCCTTC	0.323000										HNSCC(12;0.0054)				53			28		0	0	0.009535	0	0
GH1	2688	broad.mit.edu	37	17	61995778	61995778	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:61995778G>A	uc002jdj.3	-	1	161	c.99C>T	c.(97-99)tcC>tcT	p.S33S	GH1_uc002jdi.3_Silent_p.S33S|GH1_uc002jdk.3_Silent_p.S33S|GH1_uc002jdl.3_Silent_p.S33S|GH1_uc002jdm.3_Intron|GH1_uc002jdn.3_Silent_p.S33S	NM_000515	NP_000506	P01241	SOMA_HUMAN	Homo sapiens growth hormone 1 (GH1), transcript variant 1, mRNA.	33					JAK-STAT cascade|glucose transport|growth hormone receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						CAAAAAGCCTGGATAAGGGAA	0.592000														122			72		0	0	0.014410	0	0
FAM178A	55719	broad.mit.edu	37	10	102689755	102689755	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:102689755G>A	uc001krs.3	+	8	2875	c.2333_splice	c.e8+1	p.K778_splice	FAM178A_uc001krt.4_Splice_Site_p.K778_splice	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN	Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA.	778																	TTATTCTTAAGTAAGTAGAAA	0.264000														26			9		0	0	0.004482	0	0
PCDHB6	56130	broad.mit.edu	37	5	140529943	140529943	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140529943G>A	uc003lir.3	+	0	105	c.105G>A	c.(103-105)ttG>ttA	p.L35L		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	35	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTCCGTATTGGAGGAGACAG	0.493000														54			21		0	0	0.008871	0	0
C12orf63	374467	broad.mit.edu	37	12	97150262	97150262	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:97150262G>A	uc021rcc.1	+	23	3220	c.3142G>A	c.(3142-3144)Gaa>Aaa	p.E1048K				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	1048										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AATACTAATGGAAGAGAAATC	0.303000														25			12		0	0	0.002450	0	0
SIDT1	54847	broad.mit.edu	37	3	113285348	113285348	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:113285348G>A	uc021xcn.1	+	1	955	c.304G>A	c.(304-306)Gag>Aag	p.E102K	SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Missense_Mutation_p.E102K|SIDT1_uc011big.2_5'UTR	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.	102						integral to membrane		p.E102A(1)		breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CCAGCAGAAAGAGGTGCTGTC	0.493000														39			47		0	0	0.014410	0	0
ALMS1	7840	broad.mit.edu	37	2	73799595	73799595	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:73799595C>T	uc002sje.1	+	15	10699	c.10588C>T	c.(10588-10590)Cct>Tct	p.P3530S	ALMS1_uc002sjf.1_Missense_Mutation_p.P3488S|ALMS1_uc002sjg.3_Missense_Mutation_p.P2918S|ALMS1_uc002sjh.1_Missense_Mutation_p.P2918S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	3530					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCTTCCTCTTCCTTATCAAAA	0.368000														24			11		0	0	0.010729	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838383	16838383	+	Silent	SNP	C	T	T	rs142792914		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:16838383C>T	uc010rcu.1	-	10	1845	c.1830G>A	c.(1828-1830)ggG>ggA	p.G610G	PLEKHA7_uc001mmo.3_Silent_p.G610G|PLEKHA7_uc010rcv.2_Silent_p.G184G|PLEKHA7_uc001mmn.3_Silent_p.G318G	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	610	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TTGGAGAATCCCCCAGCGAGA	0.657000														38			7		0	0	0.001984	0	0
FRY	10129	broad.mit.edu	37	13	32721429	32721429	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:32721429C>T	uc001utx.3	+	11	1686	c.1190C>T	c.(1189-1191)cCc>cTc	p.P397L	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AACAAAGATCCCAAGATGGCT	0.413000														17			13		0	0	0.001855	0	0
MYCBP2	23077	broad.mit.edu	37	13	77671906	77671906	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:77671906G>A	uc021rks.1	-	55	9650	c.9383C>T	c.(9382-9384)cCt>cTt	p.P3128L	MYCBP2_uc010aev.3_Missense_Mutation_p.P2494L|MYCBP2_uc001vkg.1_Missense_Mutation_p.P613L|MYCBP2_uc010aew.3_Missense_Mutation_p.P476L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	3090					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTCATGCAGAGGTGGTTCCTT	0.388000														62			30		0	0	0.010818	0	0
CCDC135	84229	broad.mit.edu	37	16	57761237	57761237	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:57761237G>A	uc002emi.3	+	14	2201	c.2112G>A	c.(2110-2112)gaG>gaA	p.E704E	CCDC135_uc002emj.3_Silent_p.E704E|CCDC135_uc002emk.3_Silent_p.E639E	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	704						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						AGCTTCGAGAGGAAGAGGAGG	0.547000														72			39		0	0	0.009718	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136409658	136409658	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:136409658C>T	uc011mdl.2	+	7	1306	c.749C>T	c.(748-750)tCc>tTc	p.S250F	ADAMTSL2_uc004cei.3_Missense_Mutation_p.S250F	NM_001145320	NP_055509	Q86TH1	ATL2_HUMAN	Homo sapiens ADAMTS-like 2 (ADAMTSL2), transcript variant 2, mRNA.	250					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.S250S(1)		kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		AGGAAGAAGTCCGCTGACGTG	0.582000														31			25		0	0	0.003954	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145781006	145781006	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:145781006G>A	uc003zds.1	-	4	1089	c.534C>T	c.(532-534)ttC>ttT	p.F178F	ARHGAP39_uc011llk.1_Silent_p.F178F|ARHGAP39_uc003zdt.1_Silent_p.F178F	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	178					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CCTTCTCAAGGAACACTCCTG	0.453000														108			40		0	0	0.010771	0	0
GPR111	222611	broad.mit.edu	37	6	47649948	47649948	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:47649948C>T	uc010jzj.1	+	5	1654	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F	GPR111_uc003oyy.3_Silent_p.F483F	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	551					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TGATTGTTTTCCATACCTTGC	0.463000														52			25		0	0	0.006320	0	0
CDKL1	8814	broad.mit.edu	37	14	50862430	50862430	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:50862430G>A	uc010anu.2	-	4	727	c.727C>T	c.(727-729)Cga>Tga	p.R243*	CDKL1_uc001wxz.3_Nonsense_Mutation_p.R54*	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	Homo sapiens cyclin-dependent kinase-like 1 (CDC2-related kinase) (CDKL1), mRNA.	53	Protein kinase.					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					TTGAGCATTCGGATTTCCCGA	0.438000														55			40		0	0	0.008740	0	0
ODZ4	26011	broad.mit.edu	37	11	78419459	78419459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:78419459C>T	uc001ozl.4	-	26	4619	c.4156G>A	c.(4156-4158)Gat>Aat	p.D1386N		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1386					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GATGTGAGATCATTAGAGCCG	0.512000														8			19		0	0	0.010504	0	0
FCRL1	115350	broad.mit.edu	37	1	157766900	157766900	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:157766900C>T	uc001frg.3	-	9	1322	c.1209G>A	c.(1207-1209)atG>atA	p.M403I	FCRL1_uc001frf.3_Non-coding_Transcript|FCRL1_uc001frh.3_Missense_Mutation_p.M402I|FCRL1_uc001fri.3_Nonsense_Mutation_p.W361*|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	403						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCTTGTCCTCCATATGTGTCC	0.393000														50			15		0	0	0.007413	0	0
EVPL	2125	broad.mit.edu	37	17	74013831	74013831	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:74013831G>A	uc010wss.1	-	13	1993	c.1765C>T	c.(1765-1767)Cac>Tac	p.H589Y	EVPL_uc002jqi.2_Missense_Mutation_p.H567Y|EVPL_uc010wst.1_Missense_Mutation_p.H37Y	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	567	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCATGGCTGTGGATGCGGCCC	0.687000														45			27		0	0	0.006320	0	0
EMB	133418	broad.mit.edu	37	5	49695120	49695120	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:49695120G>A	uc003jom.3	-	8	1220	c.971C>T	c.(970-972)tCt>tTt	p.S324F	EMB_uc010ivq.3_Missense_Mutation_p.S118F|EMB_uc003jol.3_Missense_Mutation_p.S255F|EMB_uc011cpy.2_Missense_Mutation_p.S274F	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	324						integral to membrane		p.S324C(2)		breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				CTGGCCCAGAGACTCCTGAGT	0.338000														39			16		0	0	0.008871	0	0
OR9A4	130075	broad.mit.edu	37	7	141618750	141618750	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:141618750C>T	uc003vwu.1	+	0	75	c.75C>T	c.(73-75)atC>atT	p.I25I		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H24H(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TACATCATATCCTTTTTGCTA	0.398000														144			58		0	0	0.014410	0	0
GIMAP2	26157	broad.mit.edu	37	7	150390381	150390381	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:150390381G>A	uc003who.3	+	2	1095	c.1007G>A	c.(1006-1008)aGg>aAg	p.R336K		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	336						integral to membrane	GTP binding	p.P335S(1)		kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGACTCCTAGGTTATAGTTA	0.323000														27			14		0	0	0.001855	0	0
RAD21	5885	broad.mit.edu	37	8	117874126	117874126	+	Silent	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:117874126A>G	uc003yod.3	-	3	616	c.328T>C	c.(328-330)Tta>Cta	p.L110L		NM_006265	NP_006256	O60216	RAD21_HUMAN	Homo sapiens RAD21 homolog (S. pombe) (RAD21), mRNA.	110					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TCTTCAGGTAAAGTAATGGCA	0.368000														102			48		0	0	0.014410	0	0
LCMT1	51451	broad.mit.edu	37	16	25182046	25182046	+	Silent	SNP	C	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:25182046C>A	uc002dnx.1	+	8	962	c.804C>A	c.(802-804)ctC>ctA	p.L268L	LCMT1_uc002dny.1_Silent_p.L213L	NM_016309	NP_057393	Q9UIC8	LCMT1_HUMAN	Homo sapiens leucine carboxyl methyltransferase 1 (LCMT1), transcript variant 1, mRNA.	268							S-adenosylmethionine-dependent methyltransferase activity|protein C-terminal carboxyl O-methyltransferase activity|protein binding								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	AAGAACGGCTCCTGTCGAATG	0.478000														56			43		2.24722e-20	2.50458e-20	0.014410	1	0
PROKR2	128674	broad.mit.edu	37	20	5283145	5283145	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:5283145G>A	uc010zqw.2	-	1	704	c.696C>T	c.(694-696)ttC>ttT	p.F232F	PROKR2_uc010zqx.2_Silent_p.F232F|PROKR2_uc010zqy.2_Silent_p.F232F	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	232						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.E231D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CAGGGCCCACGAACTCGACAC	0.557000										HNSCC(71;0.22)				73			35		0	0	0.004289	0	0
EMR1	2015	broad.mit.edu	37	19	6906464	6906464	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:6906464G>A	uc002mfw.3	+	8	1008	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	EMR1_uc010dvc.3_Missense_Mutation_p.E324K|EMR1_uc010dvb.3_Missense_Mutation_p.E272K|EMR1_uc010xji.2_Missense_Mutation_p.E183K|EMR1_uc010xjj.2_Missense_Mutation_p.E147K	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	324	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CAAATGTAAGGAAGATGTGAT	0.393000														47			23		0	0	0.003330	0	0
LRP1B	53353	broad.mit.edu	37	2	141108583	141108583	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:141108583A>G	uc002tvj.1	-	76	12647	c.11675T>C	c.(11674-11676)aTt>aCt	p.I3892T		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3892					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)		GTCATTAGCAATGTAGAGAAC	0.284000										TSP Lung(27;0.18)				62			51		0	0	0.014410	0	0
CRTC3	64784	broad.mit.edu	37	15	91150629	91150629	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:91150629C>T	uc002bpp.3	+	5	602	c.496C>T	c.(496-498)Ctt>Ttt	p.L166F	CRTC3_uc002bpo.3_Missense_Mutation_p.L166F	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	Homo sapiens CREB regulated transcription coactivator 3 (CRTC3), transcript variant 1, mRNA.	166					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			TGATTCTGCTCTTCACACGAG	0.522000			T	MAML2	salivary gland mucoepidermoid									65			41		0	0	0.014410	0	0
ACSL6	23305	broad.mit.edu	37	5	131307271	131307271	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:131307271C>T	uc003kvx.2	-	13	1515	c.1406G>A	c.(1405-1407)gGa>gAa	p.G469E	ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Missense_Mutation_p.G434E|ACSL6_uc003kvy.2_Missense_Mutation_p.G469E|ACSL6_uc003kvz.2_Missense_Mutation_p.G369E|ACSL6_uc021ydh.1_Missense_Mutation_p.G369E|ACSL6_uc010jdo.2_Missense_Mutation_p.G444E|ACSL6_uc003kwa.2_Missense_Mutation_p.G455E|ACSL6_uc003kvw.2_Missense_Mutation_p.G90E|ACSL6_uc010jdn.2_Missense_Mutation_p.G459E	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.	444					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCGGAGAAATCCCAGAACTGT	0.512000														13			10		0	0	0.010729	0	0
ZNF831	128611	broad.mit.edu	37	20	57766277	57766277	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:57766277C>T	uc002yan.3	+	0	203	c.203C>T	c.(202-204)cCc>cTc	p.P68L		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	68	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACGGTGCCTCCCGGGGGCCTC	0.701000														15			5		0	0	0.000602	0	0
LNX1	84708	broad.mit.edu	37	4	54364864	54364864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:54364864G>A	uc003hag.4	-	4	1178	c.922C>T	c.(922-924)Cgt>Tgt	p.R308C	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Missense_Mutation_p.R212C|LNX1_uc003hah.4_Intron	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	308	PDZ 1.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACCCCATCACGATAAATGTGT	0.507000														31			20		0	0	0.012319	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50466990	50466990	+	Missense_Mutation	SNP	T	C	C	rs144184696	by1000genomes	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:50466990T>C	uc001vdk.2	+	0	2446	c.2264T>C	c.(2263-2265)cTg>cCg	p.L755P						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		GTCTGTCCACTGAGGGGTTTT	0.517000														56			4		0	0	0.009096	0	0
MUC16	94025	broad.mit.edu	37	19	9068160	9068160	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9068160G>A	uc002mkp.3	-	2	19490	c.19286C>T	c.(19285-19287)aCc>aTc	p.T6429I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6431	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						AGAAAGCATGGTGACAGATCT	0.512000														130			70		0	0	0.014410	0	0
ABCC12	94160	broad.mit.edu	37	16	48130803	48130803	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:48130803A>G	uc002efc.1	-	21	3395	c.3049T>C	c.(3049-3051)Tac>Cac	p.Y1017H	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	1017	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CAGTTAAAGTAGAGGAGGTGA	0.458000														34			29		0	0	0.007291	0	0
OBSCN	84033	broad.mit.edu	37	1	228433369	228433370	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:228433369_228433370CC>AT	uc009xez.1	+	11	3781_3782	c.3737_3738CC>AT	c.(3736-3738)tcc>tAT	p.S1246Y	OBSCN_uc001hsn.3_Missense_Mutation_p.S1246Y	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1246	Ig-like 12.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGAGAGTCTCCTTTCAACTGC	0.540000														79			22		0	0	0.004672	0	0
FBXL4	26235	broad.mit.edu	37	6	99347336	99347336	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:99347336G>A	uc003ppf.1	-	5	1483	c.1125C>T	c.(1123-1125)tcC>tcT	p.S375S	FBXL4_uc003ppg.1_Silent_p.S375S|FBXL4_uc003pph.1_5'UTR|FBXL4_uc010kcp.3_5'UTR	NM_012160	NP_036292	Q9UKA2	FBXL4_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 4 (FBXL4), mRNA.	375					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		GTACTAATTCGGATCCACAAA	0.338000														22			14		0	0	0.001855	0	0
FOXI1	2299	broad.mit.edu	37	5	169535193	169535193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:169535193C>T	uc003mai.4	+	1	760	c.715C>T	c.(715-717)Ccg>Tcg	p.P239S	FOXI1_uc003maj.4_Intron	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	239					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.P239L(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGCAGTCTCCCGGTGGACAG	0.572000									Pendred syndrome					37			24		0	0	0.002780	0	0
SEMG2	6407	broad.mit.edu	37	20	43850512	43850512	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:43850512G>A	uc010ggz.3	+	1	296	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	SEMG2_uc002xnk.3_Missense_Mutation_p.R80Q|SEMG2_uc002xnl.3_Missense_Mutation_p.R80Q	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	80	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GACTGGACCCGAAAAAGTCAG	0.368000														42			30		0	0	0.013726	0	0
PLXDC2	84898	broad.mit.edu	37	10	20335861	20335861	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:20335861G>A	uc001iqg.1	+	2	1025	c.388G>A	c.(388-390)Gat>Aat	p.D130N	PLXDC2_uc001iqh.1_Intron	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	130						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TGCCAGCCGGGATTTATGGGT	0.373000														97			29		0	0	0.006320	0	0
AVPR1B	553	broad.mit.edu	37	1	206224674	206224674	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:206224674G>A	uc001hds.2	+	0	392	c.234G>A	c.(232-234)ctG>ctA	p.L78L		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	78					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	ACTTAGCCCTGACAGACCTGG	0.677000														42			10		0	0	0.006214	0	0
TPR	7175	broad.mit.edu	37	1	186303579	186303579	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:186303579G>A	uc001grv.3	-	35	5357	c.5060C>T	c.(5059-5061)gCt>gTt	p.A1687V	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	1687					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.M1687T(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTTATTTCCAGCCATAGCTGC	0.488000			T	NTRK1	papillary thyroid									75			45		0	0	0.011902	0	0
NBEA	26960	broad.mit.edu	37	13	35733926	35733926	+	Silent	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:35733926A>G	uc021rid.1	+	21	4152	c.3618A>G	c.(3616-3618)aaA>aaG	p.K1206K	NBEA_uc021ric.1_Silent_p.K1206K|NBEA_uc010abi.3_5'Flank	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1206						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAGAAGAAAAAGAATTCAAAA	0.393000														16			11		0	0	0.008291	0	0
SLC22A3	6581	broad.mit.edu	37	6	160828194	160828194	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:160828194G>A	uc003qti.3	+	2	682	c.655G>A	c.(655-657)Gga>Aga	p.G219R	SLC22A3_uc011efx.2_Non-coding_Transcript	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	219						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		AGGTGTATTTGGAAAGGGGAC	0.478000														105			48		0	0	0.014410	0	0
PLXNB2	23654	broad.mit.edu	37	22	50719197	50719197	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:50719197C>T	uc003bkv.4	-	23	4062	c.3969G>A	c.(3967-3969)ctG>ctA	p.L1323L	PLXNB2_uc003bkt.1_Silent_p.L115L|PLXNB2_uc003bku.1_Silent_p.L308L	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1323					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACTTGCTGTTCAGCAGGTTGG	0.657000														18			12		0	0	0.013537	0	0
IRAK2	3656	broad.mit.edu	37	3	10268076	10268076	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:10268076G>A	uc003bve.1	+	9	1307	c.1231G>A	c.(1231-1233)Ggc>Agc	p.G411S		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	411	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated 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	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GGTCCTCACGGGCATCCCTGC	0.537000														28			13		0	0	0.006122	0	0
ARMC4	55130	broad.mit.edu	37	10	28233336	28233336	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:28233336C>T	uc009xky.3	-	11	1656	c.1558G>A	c.(1558-1560)Gaa>Aaa	p.E520K	ARMC4_uc010qds.2_Missense_Mutation_p.E45K|ARMC4_uc010qdt.2_Missense_Mutation_p.E212K|ARMC4_uc001itz.3_Missense_Mutation_p.E520K|ARMC4_uc010qdu.1_Missense_Mutation_p.E212K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	520							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGACTGATTTCCTTCAGTATT	0.343000														28			12		0	0	0.002450	0	0
CASP7	840	broad.mit.edu	37	10	115481443	115481443	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:115481443C>T	uc001lan.3	+	3	455	c.281C>T	c.(280-282)gCc>gTc	p.A94V	CASP7_uc001lam.3_Missense_Mutation_p.A94V|CASP7_uc001lao.3_Missense_Mutation_p.A127V|CASP7_uc001lap.3_Missense_Mutation_p.A94V|CASP7_uc001laq.3_Missense_Mutation_p.A94V|CASP7_uc010qsa.2_Missense_Mutation_p.A179V|CASP7_uc010qsb.2_Missense_Mutation_p.A69V	NM_033339	NP_203125	P55210	CASP7_HUMAN	Homo sapiens caspase 7, apoptosis-related cysteine peptidase (CASP7), transcript variant gamma, mRNA.	94					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		GACAAAGATGCCGAGGCGCTC	0.502000														77			18		0	0	0.010504	0	0
PLXNA2	5362	broad.mit.edu	37	1	208390341	208390341	+	Silent	SNP	G	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:208390341G>C	uc001hgz.3	-	1	1685	c.927C>G	c.(925-927)ctC>ctG	p.L309L	PLXNA2_uc001hha.4_Silent_p.L363L	NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	309	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CAGCCTGCAGGAGGCGGTATT	0.612000														38			17		0	0	0.007413	0	0
BCAS4	55653	broad.mit.edu	37	20	49458428	49458428	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:49458428C>T	uc002xvq.3	+	3	544	c.480C>T	c.(478-480)tcC>tcT	p.S160S	BCAS4_uc002xvr.3_Silent_p.S160S|BCAS4_uc002xvs.3_Intron	NM_017843	NP_060313	Q8TDM0	BCAS4_HUMAN	Homo sapiens breast carcinoma amplified sequence 4 (BCAS4), transcript variant 1, mRNA.	160						cytoplasm				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						GGCTCCCCTCCTTCAGGAACG	0.667000														11			14		0	0	0.003163	0	0
PTTG3P	26255	broad.mit.edu	37	8	67680207	67680207	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:67680207C>T	uc011leu.2	-	0	34	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	SGK3_uc003xwp.3_Intron|SGK3_uc003xwr.3_Intron					Homo sapiens pituitary tumor-transforming 3, pseudogene (PTTG3P), non-coding RNA.																		CCTGGTTCTTCGTTTTCCTTA	0.398000														18			12		0	0	0.002450	0	0
INPP5D	3635	broad.mit.edu	37	2	234112976	234112976	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:234112976C>T	uc010zmo.2	+	24	3246	c.3093C>T	c.(3091-3093)atC>atT	p.I1031I	INPP5D_uc010zmp.2_Silent_p.I1030I	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	1060	Pro-rich.				T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CGCCCAGCATCGTGCTCACCA	0.687000														30			9		0	0	0.008291	0	0
MTMR8	55613	broad.mit.edu	37	X	63574716	63574716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:63574716C>T	uc004dvs.3	-	3	499	c.409G>A	c.(409-411)Ggg>Agg	p.G137R	MTMR8_uc011mou.2_Missense_Mutation_p.G137R	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	137	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CCCATACGCCCAAAGTCTGAT	0.383000														11			21		0	0	0.002780	0	0
USP36	57602	broad.mit.edu	37	17	76794553	76794553	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:76794553G>A	uc002jvz.1	-	19	3646	c.3321C>T	c.(3319-3321)ttC>ttT	p.F1107F	USP36_uc002jwa.1_Silent_p.F1107F|USP36_uc002jvy.1_Silent_p.F167F	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA.	1105					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TCACAGACCAGAAGTTCCGTC	0.512000														73			42		0	0	0.014410	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140237445	140237445	+	Silent	SNP	G	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140237445G>C	uc003lhx.2	+	0	1812	c.1812G>C	c.(1810-1812)gcG>gcC	p.A604A	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_uc011dad.2_Silent_p.A604A	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	618	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)			GATACAACGCGTGGCTGTCGT	0.652000														12			10		0	0	0.008291	0	0
BLM	641	broad.mit.edu	37	15	91292641	91292641	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:91292641C>T	uc002bpr.3	+	2	240	c.143C>T	c.(142-144)tCt>tTt	p.S48F	BLM_uc010uqh.2_Missense_Mutation_p.S48F|BLM_uc010uqi.2_5'UTR|BLM_uc010bnx.3_Missense_Mutation_p.S48F	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	48					G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AACAATGTATCTGTAACTAAT	0.333000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					274			149		0	0	0.014410	0	0
SLC45A3	85414	broad.mit.edu	37	1	205628574	205628574	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:205628574G>A	uc001hda.1	-	4	1789	c.1450C>T	c.(1450-1452)Ccg>Tcg	p.P484S	SLC45A3_uc010prn.1_Intron|SLC45A3_uc010pro.1_Intron|SLC45A3_uc010prp.1_Intron|SLC45A3_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA.	484					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCCCGGCCCGGAACCACCCTG	0.667000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			10		0	0	0.006214	0	0
USP19	10869	broad.mit.edu	37	3	49149122	49149122	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:49149122G>A	uc003cwd.2	-	19	3038	c.2719C>T	c.(2719-2721)Ccc>Tcc	p.P907S	USP19_uc003cwa.3_Missense_Mutation_p.P715S|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_Missense_Mutation_p.P1010S|USP19_uc011bcg.2_Missense_Mutation_p.P998S|USP19_uc003cwc.2_Missense_Mutation_p.P665S|USP19_uc011bch.2_Missense_Mutation_p.P1008S	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	907					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGCTGAATGGGGTCTCTCTCG	0.667000														30			22		0	0	0.012319	0	0
SOGA1	140710	broad.mit.edu	37	20	35422871	35422872	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:35422871_35422872CC>TT	uc021wcx.1	-	13	3953_3954	c.3613_3614GG>AA	c.(3613-3615)ggg>AAg	p.G1205K	SOGA1_uc002xgd.1_Missense_Mutation_p.G967K|SOGA1_uc021wcy.1_Missense_Mutation_p.G96K	NM_080627	NP_542194	O94964	K0889_HUMAN	Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA.	967										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CTCTGGATCCCCTGGCTCGGAG	0.614000														55			29		0	0	0.004672	0	0
IL34	146433	broad.mit.edu	37	16	70688538	70688538	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:70688538G>A	uc002ezh.2	+	2	681	c.126G>A	c.(124-126)cgG>cgA	p.R42R	IL34_uc002ezi.2_Silent_p.R42R|IL34_uc021tkk.1_Silent_p.R42R	NM_152456	NP_689669	Q6ZMJ4	IL34_HUMAN	Homo sapiens interleukin 34 (IL34), transcript variant 1, mRNA.	42					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding	p.R42Q(2)		breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						GTTTTCTGCGGGACAAGCTGC	0.592000											OREG0023916	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		72			11		0	0	0.013537	0	0
UGT3A1	133688	broad.mit.edu	37	5	35991338	35991338	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:35991338A>G	uc003jjv.2	-	0	198	c.5T>C	c.(4-6)gTt>gCt	p.V2A	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.V2A|UGT3A1_uc011cor.2_Missense_Mutation_p.V2A|UGT3A1_uc003jjy.2_Intron	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	2						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCGCTGCCCAACCATGCTCAC	0.597000														54			31		0	0	0.010818	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74905279	74905279	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:74905279G>A	uc001dge.2	+	21	2354	c.2287G>A	c.(2287-2289)Gaa>Aaa	p.E763K	FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.E763K|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.E662K	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	662						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										TCTCACTGGCGAAATTCCATT	0.438000														42			31		0	0	0.009535	0	0
GABRP	2568	broad.mit.edu	37	5	170222365	170222365	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:170222365G>A	uc003mau.3	+	4	592	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	GABRP_uc011dev.2_Missense_Mutation_p.E132K	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	132						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTCCTCCATGAAGTCACTGT	0.562000														57			37		0	0	0.006230	0	0
LRP1B	53353	broad.mit.edu	37	2	141680548	141680548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:141680548G>A	uc002tvj.1	-	20	4277	c.3305C>T	c.(3304-3306)tCc>tTc	p.S1102F	LRP1B_uc010fnl.1_Missense_Mutation_p.S284F	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1102	LDL-receptor class A 9.				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)		ACTCCAACAGGAAAACTTGGT	0.443000										TSP Lung(27;0.18)				39			24		0	0	0.003954	0	0
OR52N2	390077	broad.mit.edu	37	11	5841972	5841972	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:5841972C>T	uc010qzp.2	+	0	407	c.407C>T	c.(406-408)aCc>aTc	p.T136I	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGCTATGCCACCATCCTTACC	0.547000														47			32		0	0	0.003755	0	0
WNK1	65125	broad.mit.edu	37	12	977790	977790	+	Silent	SNP	A	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:977790A>T	uc021qss.1	+	8	3541	c.2898A>T	c.(2896-2898)gtA>gtT	p.V966V	WNK1_uc001qio.4_Intron|WNK1_uc021qst.1_Silent_p.V1051V|WNK1_uc001qip.4_Intron|WNK1_uc001qir.4_Intron|WNK1_uc001qiq.3_Silent_p.V265V	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	0					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GCAACTGTGTATTTGAATTTC	0.443000														23			17		0	0	0.008871	0	0
DSCR6	53820	broad.mit.edu	37	21	38390361	38390361	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr21:38390361C>T	uc002yvv.3	+	3	637	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W	DSCR6_uc011aec.2_Silent_p.V29V|DSCR6_uc010gnd.3_Silent_p.V29V	NM_018962	NP_061835	P57055	DSCR6_HUMAN	Homo sapiens Down syndrome critical region gene 6 (DSCR6), mRNA.	143						nucleus				NS(1)|breast(1)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(46;0.0632)				GGTGGGAGGTCGGCAGGAAAA	0.627000														7			19		0	0	0.008871	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209936196	209936196	+	Missense_Mutation	SNP	G	A	A	rs150703631	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:209936196G>A	uc001hho.3	+	4	952	c.532G>A	c.(532-534)Gat>Aat	p.D178N	TRAF3IP3_uc001hhm.2_Missense_Mutation_p.D178N|TRAF3IP3_uc001hhn.3_Missense_Mutation_p.D158N|TRAF3IP3_uc009xcr.3_Missense_Mutation_p.D178N	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	178						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AATTAAGAACGATGCCAGTCA	0.468000														72			53		0	0	0.014410	0	0
ANO1	55107	broad.mit.edu	37	11	69972233	69972234	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:69972233_69972234CC>AT	uc001opj.3	+	9	1334_1335	c.1029_1030CC>AT	c.(1027-1032)atccct>atATct	p.P344S	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Missense_Mutation_p.P316S|ANO1_uc010rqk.2_Missense_Mutation_p.P79S	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	344					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						AGATGCTCATCCCTGCCTCCAT	0.594000														34			48		0	0	0.004672	0	0
SEC31B	25956	broad.mit.edu	37	10	102267248	102267248	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:102267248G>A	uc001krc.1	-	6	818	c.716C>T	c.(715-717)cCc>cTc	p.P239L	SEC31B_uc010qpo.1_Missense_Mutation_p.P238L|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_Intron|SEC31B_uc010qpp.1_Missense_Mutation_p.P242L|SEC31B_uc009xwn.1_Missense_Mutation_p.P239L|SEC31B_uc009xwo.1_Missense_Mutation_p.P239L|SEC31B_uc010qpq.1_Missense_Mutation_p.P82L|SEC31B_uc010qpr.1_Non-coding_Transcript	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	239					protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CTGAATCACGGGAAGTCGATC	0.562000														66			17		0	0	0.006122	0	0
DNAH8	1769	broad.mit.edu	37	6	38690838	38690838	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:38690838C>T	uc021yzh.1	+	1	362	c.253C>T	c.(253-255)Cga>Tga	p.R85*	DNAH8_uc003ooe.2_5'UTR	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						GAATAGAGTTCGACAGAGGCT	0.512000														46			28		0	0	0.008361	0	0
HEG1	57493	broad.mit.edu	37	3	124731583	124731583	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:124731583G>T	uc011bke.2	-	6	3208	c.3140C>A	c.(3139-3141)tCt>tAt	p.S1047Y	HEG1_uc003ehs.4_Missense_Mutation_p.S947Y	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	947	EGF-like 2; calcium-binding (Potential).					extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GGGAGAAGGAGATGTTCCGAG	0.507000														8			16		8.60227e-14	9.5637e-14	0.004007	1	0
DAO	1610	broad.mit.edu	37	12	109284019	109284019	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:109284019G>A	uc001tnr.4	+	4	1093	c.422G>A	c.(421-423)gGa>gAa	p.G141E	DAO_uc001tnq.4_Intron|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	141					glyoxylate metabolic process	peroxisomal matrix	D-amino-acid oxidase activity|binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						ATTCTGGAGGGAAAGAACTAT	0.438000														46			30		0	0	0.012213	0	0
RNF213	57674	broad.mit.edu	37	17	78336975	78336975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	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														57			35		0	0	0.004289	0	0
DLL3	10683	broad.mit.edu	37	19	39991276	39991276	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:39991276G>A	uc002olx.2	+	2	431	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	DLL3_uc010egq.3_Missense_Mutation_p.E125K|DLL3_uc002olw.2_Missense_Mutation_p.E125K	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	Homo sapiens delta-like 3 (Drosophila) (DLL3), transcript variant 1, mRNA.	125					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	p.E125K(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTTCATCATCGAAACCTGGAG	0.537000														129			47		0	0	0.014410	0	0
GOLIM4	27333	broad.mit.edu	37	3	167747027	167747027	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:167747027G>A	uc011bpe.1	-	10	1841	c.1497C>T	c.(1495-1497)atC>atT	p.I499I	GOLIM4_uc003ffe.2_Silent_p.I499I|GOLIM4_uc011bpf.1_Silent_p.I471I|GOLIM4_uc011bpg.1_Silent_p.I471I	NM_014498	NP_055313	O00461	GOLI4_HUMAN	Homo sapiens golgi integral membrane protein 4 (GOLIM4), mRNA.	499	Gln-rich.|Glu-rich.				transport	Golgi cisterna membrane|Golgi lumen|cis-Golgi network|endocytic vesicle|endosome membrane|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCTCTCCTTGGATTCCCTGGT	0.383000														38			16		0	0	0.004007	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136594241	136594241	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:136594241C>T	uc003yuv.3	+	5	1126	c.732C>T	c.(730-732)ccC>ccT	p.P244P	KHDRBS3_uc003yuw.3_Silent_p.P244P|KHDRBS3_uc010mek.3_Non-coding_Transcript	NM_006558	NP_006549	O75525	KHDR3_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 3 (KHDRBS3), mRNA.	244	Interaction with SIAH1.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			TTCTCACTCCCAGAGCAAGAG	0.587000														76			11		0	0	0.008291	0	0
TBX18	9096	broad.mit.edu	37	6	85472279	85472279	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:85472279G>A	uc003pkl.1	-	1	480	c.480C>T	c.(478-480)atC>atT	p.I160I	TBX18_uc010kbq.2_Silent_p.I2I	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	160					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CCTTGGTGATGATCATCTCAG	0.647000														114			58		0	0	0.014410	0	0
ROCK2	9475	broad.mit.edu	37	2	11338879	11338879	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:11338879G>T	uc002rbd.1	-	23	3381	c.2932C>A	c.(2932-2934)Cta>Ata	p.L978I		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	978					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	p.L978I(3)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TCACTAGTTAGTGTCCTATTA	0.269000														20			11		0.00010058	0.00011069	0.013537	1	0
SHD	56961	broad.mit.edu	37	19	4280097	4280097	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:4280097G>A	uc002lzw.2	+	0	1500	c.37G>A	c.(37-39)Ggt>Agt	p.G13S		NM_020209	NP_064594	Q96IW2	SHD_HUMAN	Homo sapiens Src homology 2 domain containing transforming protein D (SHD), mRNA.	13										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCTTTGGGGGTCGGAGGCC	0.677000														18			9		0	0	0.008291	0	0
ITGA11	22801	broad.mit.edu	37	15	68657105	68657105	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:68657105C>T	uc010bib.3	-	3	384	c.297G>A	c.(295-297)cgG>cgA	p.R99R	ITGA11_uc002ari.3_Silent_p.R99R	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	99					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)	TGTTGTCTTTCCGCTCGGACA	0.637000														45			31		0	0	0.003755	0	0
SMR3A	26952	broad.mit.edu	37	4	71232465	71232465	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:71232465C>T	uc003hfg.1	+	2	240	c.159C>T	c.(157-159)ccC>ccT	p.P53P	SMR3A_uc011cas.2_Intron	NM_012390	NP_036522	Q99954	SMR3A_HUMAN	Homo sapiens submaxillary gland androgen regulated protein 3A (SMR3A), mRNA.	53	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TTCCACCACCCCATCCTCCAC	0.572000														54			34		0	0	0.003271	0	0
PRIC285	85441	broad.mit.edu	37	20	62192594	62192594	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:62192594G>A	uc002yfm.2	-	14	7879	c.6987C>T	c.(6985-6987)ttC>ttT	p.F2329F	PRIC285_uc002yfl.1_Silent_p.F1760F	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	2329					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GGTCCAGCTCGAACTTCCGAG	0.632000														46			35		0	0	0.005524	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677649	37677649	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:37677649G>A	uc002ofq.3	-	4	1042	c.790C>T	c.(790-792)Cat>Tat	p.H264Y	ZNF585B_uc002ofr.1_Missense_Mutation_p.H78Y	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCGCCTGTATGGATTTTCTGA	0.423000														118			78		0	0	0.014410	0	0
TLR5	7100	broad.mit.edu	37	1	223284687	223284687	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:223284687G>A	uc021pjl.1	-	0	1687	c.1687C>T	c.(1687-1689)Cct>Tct	p.P563S	TLR5_uc001hnv.2_Missense_Mutation_p.P563S|TLR5_uc001hnw.2_Missense_Mutation_p.P563S	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	563			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TCAGGATTAGGAGCTAGGAGC	0.388000														39			23		0	0	0.002780	0	0
CRAT	1384	broad.mit.edu	37	9	131857852	131857852	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:131857852C>T	uc004bxh.3	-	13	1987	c.1705G>A	c.(1705-1707)Gtg>Atg	p.V569M	CRAT_uc004bxk.4_Missense_Mutation_p.V548M	NM_000755	NP_000746	P43155	CACP_HUMAN	Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	569					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TCGGGGACCACGGGCCCGAAG	0.632000														24			5		0	0	0.001168	0	0
PTX4	390667	broad.mit.edu	37	16	1537410	1537410	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:1537410C>T	uc010uvf.2	-	1	688	c.688G>A	c.(688-690)Gag>Aag	p.E230K		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	235						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GCTGGAGGCTCCCGCCTCCCT	0.662000														22			32		0	0	0.012213	0	0
PTPRT	11122	broad.mit.edu	37	20	40739043	40739043	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:40739043G>A	uc002xkg.3	-	22	3368	c.3184C>T	c.(3184-3186)Ctt>Ttt	p.L1062F	PTPRT_uc010ggj.3_Missense_Mutation_p.L1081F|PTPRT_uc010ggi.3_Missense_Mutation_p.L265F	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1062	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.R1062L(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)				AAGCCCAGAAGGCCAGTGGCA	0.607000														59			26		0	0	0.004656	0	0
ZNF600	162966	broad.mit.edu	37	19	53269038	53269038	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:53269038C>T	uc002qab.4	-	2	2257	c.1971G>A	c.(1969-1971)agG>agA	p.R657R	ZNF600_uc021uyz.1_Silent_p.R657R	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	Homo sapiens zinc finger protein 600 (ZNF600), mRNA.	657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		GATGAATTCTCCTATGTCTTT	0.378000														64			39		0	0	0.006230	0	0
TACC2	10579	broad.mit.edu	37	10	123847306	123847306	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:123847306T>C	uc001lfv.3	+	3	5651	c.5291T>C	c.(5290-5292)cTt>cCt	p.L1764P	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.L1764P|TACC2_uc010qtv.2_Missense_Mutation_p.L1764P	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1764						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.L1764F(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACAGCTGCCCTTCATGGGGAC	0.642000														5			13		0	0	0.003163	0	0
EFCAB6	64800	broad.mit.edu	37	22	44178146	44178146	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:44178146C>T	uc003bdy.2	-	2	367	c.53G>A	c.(52-54)cGa>cAa	p.R18Q	EFCAB6_uc003bdz.2_Intron|EFCAB6_uc010gzi.2_5'UTR|EFCAB6_uc011aqa.2_5'UTR|EFCAB6_uc003bea.2_Missense_Mutation_p.R15Q|EFCAB6_uc003beb.4_5'UTR	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGTAAATTTTCGTGTGTGAGG	0.378000														64			44		0	0	0.010771	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85431957	85431957	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:85431957G>A	uc001tac.3	+	1	114	c.3G>A	c.(1-3)atG>atA	p.M1I	TSPAN19_uc009zsj.3_5'Flank|LRRIQ1_uc001taa.1_Missense_Mutation_p.M1I|LRRIQ1_uc001tad.3_5'Flank	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAAGAATAATGGACGATGATG	0.333000														18			10		0	0	0.008291	0	0
RP1	6101	broad.mit.edu	37	8	55541555	55541555	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:55541555G>A	uc003xsd.1	+	3	5261	c.5113G>A	c.(5113-5115)Gat>Aat	p.D1705N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1705					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)			AGATAAGTGTGATGTTAGTGC	0.408000														47			31		0	0	0.013726	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798846	55798846	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:55798846C>T	uc010riw.2	+	0	952	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GTATTTAAATCGTTTAAGAAT	0.264000														52			36		0	0	0.004878	0	0
SLC5A7	60482	broad.mit.edu	37	2	108618400	108618400	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:108618400C>T	uc002tdv.3	+	5	921	c.645C>T	c.(643-645)atC>atT	p.I215I	SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Silent_p.I215I|SLC5A7_uc010ywn.2_Silent_p.I102I	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	215					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.I215I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TCGCAGACATCGGGTTCACTG	0.488000														56			14		0	0	0.004990	0	0
LOXL1	4016	broad.mit.edu	37	15	74235199	74235199	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:74235199C>T	uc002awc.1	+	1	1443	c.1107C>T	c.(1105-1107)ctC>ctT	p.L369L		NM_005576	NP_005567	Q08397	LOXL1_HUMAN	Homo sapiens lysyl oxidase-like 1 (LOXL1), mRNA.	369					protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						CTCCAGGTCTCCCTGACTTGG	0.582000														132			74		0	0	0.014410	0	0
DOCK1	1793	broad.mit.edu	37	10	128788767	128788767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:128788767C>T	uc010qun.2	+	5	437	c.373C>T	c.(373-375)Ctt>Ttt	p.L125F	DOCK1_uc001ljt.3_Missense_Mutation_p.L125F	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	125					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GATCTATGACCTTATTGAATG	0.398000														11			11		0	0	0.008291	0	0
ANO2	57101	broad.mit.edu	37	12	5744347	5744347	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:5744347C>T	uc001qnm.2	-	16	1859	c.1787G>A	c.(1786-1788)gGc>gAc	p.G596D		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	601						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGCCACAGCGCCGTAGATCTC	0.522000														20			11		0	0	0.010729	0	0
FLNC	2318	broad.mit.edu	37	7	128480922	128480922	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:128480922G>A	uc003vnz.4	+	10	1920	c.1711G>A	c.(1711-1713)Gtg>Atg	p.V571M	FLNC_uc003voa.4_Missense_Mutation_p.V571M	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	571					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.G570A(1)		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						AGAGGCAGGAGTGCAAAAGGT	0.622000														33			9		0	0	0.006214	0	0
KCNQ5	56479	broad.mit.edu	37	6	73787164	73787164	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:73787164G>A	uc011dyh.2	+	3	1083	c.736G>A	c.(736-738)Gac>Aac	p.D246N	KCNQ5_uc003pgj.4_Missense_Mutation_p.D246N|KCNQ5_uc011dyi.2_Missense_Mutation_p.D246N|KCNQ5_uc010kat.3_Missense_Mutation_p.D246N|KCNQ5_uc003pgk.3_Missense_Mutation_p.D246N|KCNQ5_uc011dyj.2_Missense_Mutation_p.D246N|KCNQ5_uc011dyk.2_Missense_Mutation_p.D5N	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	246					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GGTGCGCATGGACCGAAGGGG	0.428000														29			12		0	0	0.001855	0	0
DEPTOR	64798	broad.mit.edu	37	8	121019092	121019092	+	Missense_Mutation	SNP	C	T	T	rs147092773		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:121019092C>T	uc003yow.4	+	6	1161	c.974C>T	c.(973-975)cCg>cTg	p.P325L	DEPTOR_uc011lid.2_Missense_Mutation_p.P224L	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	Homo sapiens DEP domain containing MTOR-interacting protein (DEPTOR), mRNA.	325					intracellular signal transduction|negative regulation of TOR signaling cascade|negative regulation of cell size|negative regulation of protein kinase activity|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						CCCGGGGCTCCGTATGCAAGG	0.507000														26			14		0	0	0.003163	0	0
MAP1LC3B2	643246	broad.mit.edu	37	12	117013840	117013840	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:117013840C>T	uc009zwk.1	+	1	247	c.93C>T	c.(91-93)atC>atT	p.I31I	MAP1LC3B2_uc021rej.1_Silent_p.I31I	NM_001085481	NP_001078950	A6NCE7	MP3B2_HUMAN	Homo sapiens microtubule-associated protein 1 light chain 3 beta 2 (MAP1LC3B2), mRNA.	31					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule				breast(1)|large_intestine(2)|lung(3)	6						CAACCAAAATCCCGGTGATAA	0.483000														72			33		0	0	0.003271	0	0
INSL6	11172	broad.mit.edu	37	9	5164204	5164204	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:5164204C>T	uc003zix.3	-	1	367	c.351G>A	c.(349-351)aaG>aaA	p.K117K		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	Homo sapiens insulin-like 6 (INSL6), mRNA.	117						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		CCTTTTTATCCTTATACTCAG	0.333000														30			26		0	0	0.012213	0	0
PKD1L2	114780	broad.mit.edu	37	16	81134869	81134869	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:81134869G>A	uc002fgh.1	-	44	7233	c.7233C>T	c.(7231-7233)atC>atT	p.I2411I	PKD1L2_uc002fgf.1_Silent_p.I213I|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	2413	Interaction with GNAS and GNAI1.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCAAATCTACGATCTCCCCTT	0.493000														29			7		0	0	0.001984	0	0
ATP7B	540	broad.mit.edu	37	13	52548297	52548297	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:52548297C>T	uc001vfw.2	-	1	1216	c.1059G>A	c.(1057-1059)caG>caA	p.Q353Q	ATP7B_uc001vfy.2_Intron|ATP7B_uc010adv.2_Silent_p.Q353Q|ATP7B_uc001vfx.2_Silent_p.Q353Q|ATP7B_uc010tgt.1_Silent_p.Q353Q|ATP7B_uc010tgu.1_Silent_p.Q353Q|ATP7B_uc010tgv.1_Silent_p.Q353Q|ATP7B_uc010tgw.1_Silent_p.Q321Q	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	353					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TGCCCTGGACCTGGTTTCTCG	0.537000									Wilson disease					73			45		0	0	0.014410	0	0
OR6C4	341418	broad.mit.edu	37	12	55945641	55945641	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:55945641C>T	uc010spp.2	+	0	631	c.631C>T	c.(631-633)Ctg>Ttg	p.L211L		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TACTCTGGTGCTGGTGACACT	0.493000														45			31		0	0	0.008361	0	0
LRRC16B	90668	broad.mit.edu	37	14	24526129	24526129	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:24526129C>T	uc001wlj.2	+	12	1115	c.958C>T	c.(958-960)Cag>Tag	p.Q320*		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	320										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CTCAGGGCTCCAGGCACTCGG	0.627000														21			11		0	0	0.013537	0	0
CCKAR	886	broad.mit.edu	37	4	26483297	26483297	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:26483297G>A	uc003gse.1	-	4	1403	c.1250C>T	c.(1249-1251)tCg>tTg	p.S417L		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	417					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	ATGGCTGTACGAGAACCTGGA	0.637000														100			55		0	0	0.014410	0	0
UGP2	7360	broad.mit.edu	37	2	64118353	64118353	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:64118353G>A	uc010ypx.2	+	9	1553	c.1546G>A	c.(1546-1548)Gac>Aac	p.D516N	UGP2_uc002scl.3_Missense_Mutation_p.D496N|UGP2_uc002scm.3_Missense_Mutation_p.D507N	NM_001001521	NP_001001521	Q16851	UGPA_HUMAN	Homo sapiens UDP-glucose pyrophosphorylase 2 (UGP2), transcript variant 2, mRNA.	507					UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|glycogen biosynthetic process|phosphorylation|xenobiotic metabolic process	cytosol	UTP:glucose-1-phosphate uridylyltransferase activity|metal ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						TCGCATCTTGGACCACTGAAA	0.383000														26			14		0	0	0.001855	0	0
THSD7A	221981	broad.mit.edu	37	7	11630229	11630229	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:11630229C>T	uc021zzo.1	-	3	1563	c.1311G>A	c.(1309-1311)gtG>gtA	p.V437V	THSD7A_uc021zzn.1_Silent_p.V437V	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	437	TSP type-1 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCAAAGGGTCCACACGGCACT	0.547000										HNSCC(18;0.044)				14			11		0	0	0.008291	0	0
OBSCN	84033	broad.mit.edu	37	1	228466963	228466964	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:228466963_228466964CC>GT	uc009xez.1	+	26	7258_7259	c.7214_7215CC>GT	c.(7213-7215)ccc>cGT	p.P2405R	OBSCN_uc001hsn.3_Missense_Mutation_p.P2405R|OBSCN_uc001hsp.1_Missense_Mutation_p.P104R|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2405					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACCTCCATCCCCTCAGTGCGGC	0.639000														58			38		0	0	0.004672	0	0
CABS1	85438	broad.mit.edu	37	4	71201163	71201163	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:71201163C>T	uc003hff.3	+	0	493	c.407C>T	c.(406-408)tCc>tTc	p.S136F	CABS1_uc021xoz.1_Missense_Mutation_p.S136F	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	Homo sapiens calcium-binding protein, spermatid-specific 1 (CABS1), mRNA.	136						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATAGATTTTTCCACTGACATA	0.383000														29			21		0	0	0.012319	0	0
KCTD10	83892	broad.mit.edu	37	12	109907543	109907543	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:109907543G>A	uc001toj.1	-	1	1731	c.18C>T	c.(16-18)ctC>ctT	p.L6L	KCTD10_uc009zvi.1_5'Flank|KCTD10_uc001toi.1_Intron|KCTD10_uc001tok.1_Intron	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 10 (KCTD10), mRNA.	0					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						CCTGCCAGTGGAGAGGATACA	0.572000														38			14		0	0	0.001855	0	0
SPIC	121599	broad.mit.edu	37	12	101876674	101876674	+	Silent	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:101876674A>G	uc001tid.3	+	4	474	c.315A>G	c.(313-315)ggA>ggG	p.G105G	SPIC_uc010svp.2_Silent_p.G105G|SPIC_uc009zua.3_5'UTR|SPIC_uc021rcq.1_5'UTR	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN	Homo sapiens Spi-C transcription factor (Spi-1/PU.1 related) (SPIC), mRNA.	105						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						AAAAGGGGGGAAAAGGTACGT	0.393000														60			34		0	0	0.012213	0	0
LMTK2	22853	broad.mit.edu	37	7	97814435	97814435	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:97814435C>T	uc003upd.2	+	7	1157	c.864C>T	c.(862-864)ttC>ttT	p.F288F		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	288	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GAATAGGATTCAGCAGGTACA	0.398000														25			12		0	0	0.013537	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47233948	47233948	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:47233948G>A	uc002ion.2	+	4	720	c.661G>A	c.(661-663)Gat>Aat	p.D221N	B4GALNT2_uc010wlt.1_Missense_Mutation_p.D135N|B4GALNT2_uc010wlu.1_Missense_Mutation_p.D161N	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	221					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)			TGAAGGACCCGATGCCCCCGT	0.562000														70			35		0	0	0.011902	0	0
IL21R	50615	broad.mit.edu	37	16	27460366	27460366	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:27460366C>T	uc002dor.2	+	9	1993	c.1445C>T	c.(1444-1446)gCt>gTt	p.A482V	IL21R_uc002doq.2_Missense_Mutation_p.A460V|IL21R_uc002dos.2_Missense_Mutation_p.A460V|LOC283888_uc002dot.3_Non-coding_Transcript	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	460					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GAGGACTGGGCTGGGGGACTG	0.667000			T	BCL6	NHL									40			5		0	0	0.001984	0	0
XIRP2	129446	broad.mit.edu	37	2	168101571	168101571	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:168101571C>T	uc002udx.3	+	8	3758	c.3669C>T	c.(3667-3669)atC>atT	p.I1223I	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.I1048I|XIRP2_uc010fpq.3_Silent_p.I1001I|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1048					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						TGAAAAAGATCAAAACCTTAA	0.318000														18			14		0	0	0.002450	0	0
BNIP2	663	broad.mit.edu	37	15	59961534	59961534	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:59961534G>A	uc010uhc.2	-	7	1101	c.1098C>T	c.(1096-1098)atC>atT	p.I366I	BNIP2_uc010uhb.2_Silent_p.I307I	NM_004330	NP_004321	Q12982	BNIP2_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 2 (BNIP2), mRNA.	245					anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	GTPase activator activity|calcium ion binding|protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						GATGTACAATGATTAGGGATT	0.279000														49			27		0	0	0.006320	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67322075	67322075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:67322075C>T	uc010cef.3	+	19	3525	c.3226C>T	c.(3226-3228)Cgc>Tgc	p.R1076C	PLEKHG4_uc002eso.4_Missense_Mutation_p.R1076C|PLEKHG4_uc002esp.4_Missense_Mutation_p.R883C|PLEKHG4_uc002esq.4_Missense_Mutation_p.R1076C|PLEKHG4_uc002ess.4_Missense_Mutation_p.R1076C|PLEKHG4_uc010ceg.3_Missense_Mutation_p.R995C	NM_001129728	NP_056247	Q58EX7	PKHG4_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA.	1076					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGCAGAAGTTCGCTCTCGGGC	0.607000														52			33		0	0	0.009535	0	0
PRAMEF18	391003	broad.mit.edu	37	1	13695885	13695885	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:13695885C>T	uc009vny.1	-	2	1127	c.1080G>A	c.(1078-1080)ggG>ggA	p.G360G		NM_001099850	NP_001093260	Q5VWM3	PRA18_HUMAN	Homo sapiens PRAME family member 18 (PRAMEF18), mRNA.	360										lung(2)|ovary(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;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)		AGTACCCAATCCCACAGTCCA	0.552000														491			145		0	0	0.014410	0	0
ADAM28	10863	broad.mit.edu	37	8	24187570	24187570	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:24187570C>T	uc003xdy.3	+	10	1128	c.1045C>T	c.(1045-1047)Cat>Tat	p.H349Y	ADAM28_uc003xdx.3_Missense_Mutation_p.H349Y|ADAM28_uc011kzz.2_Missense_Mutation_p.H116Y|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.H36Y	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	349	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.H349Y(2)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGGAATGTTTCATGACGACTA	0.458000														61			35		0	0	0.003755	0	0
WT1	7490	broad.mit.edu	37	11	32456300	32456300	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:32456300T>A	uc001mtn.2	-	0	782	c.592A>T	c.(592-594)Aac>Tac	p.N198Y	WT1_uc001mto.2_Missense_Mutation_p.N198Y|WT1_uc001mtq.2_Missense_Mutation_p.N198Y|WT1_uc009yjs.2_Non-coding_Transcript|WT1-AS_uc010rec.2_5'Flank|WT1-AS_uc010red.2_5'Flank	NM_024426	NP_077744	P19544	WT1_HUMAN	Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA.	130					RNA splicing|adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric S-shaped body morphogenesis|metanephric epithelium development|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.P198fs*20(2)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TAGGGCGCGTTAGGAAACATC	0.692000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome					20			8		0	0	0.004482	0	0
FCRL6	343413	broad.mit.edu	37	1	159779293	159779293	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:159779293C>T	uc001fud.4	+	4	748	c.706C>T	c.(706-708)Ccg>Tcg	p.P236S	FCRL6_uc001fuc.2_Missense_Mutation_p.P243S|FCRL6_uc009wsz.1_Missense_Mutation_p.P141S|FCRL6_uc009wta.3_Missense_Mutation_p.P236S	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	236	Ig-like C2-type 3.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GGGCTCCCCTCCGATCCTGTA	0.587000														37			23		0	0	0.003330	0	0
MICAL1	64780	broad.mit.edu	37	6	109768346	109768347	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:109768346_109768347CC>TT	uc011eaq.2	-	16	2504_2505	c.2213_2214GG>AA	c.(2212-2214)cgg>cAA	p.R738Q	MICAL1_uc003ptj.3_Missense_Mutation_p.R719Q|MICAL1_uc003ptk.3_Missense_Mutation_p.R719Q|MICAL1_uc010kdr.3_Missense_Mutation_p.R633Q	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA.	719	LIM zinc-binding.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GGAAGCAGCTCCGGTGGAAGAA	0.624000														55			30		0	0	0.004672	0	0
C15orf37	283687	broad.mit.edu	37	15	80215371	80215371	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:80215371G>A	uc002bfb.2	+	0	259	c.256G>A	c.(256-258)Gag>Aag	p.E86K	MTHFS_uc021sru.1_Intron|MTHFS_uc002bfa.4_Intron|MTHFS_uc021srr.1_Intron|MTHFS_uc021srs.1_Intron|MTHFS_uc021srt.1_Intron					Homo sapiens chromosome 15 open reading frame 37 (C15orf37), non-coding RNA.											kidney(1)|lung(1)|stomach(1)	3						AGTACCCGCCGAGAGCGGACC	0.672000														11			11		0	0	0.010729	0	0
PDGFRA	5156	broad.mit.edu	37	4	55129833	55129833	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:55129833G>A	uc003han.4	+	4	699	c.368_splice	c.e4-1	p.D123_splice	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_Splice_Site_p.D123_splice|PDGFRA_uc010igq.1_Splice_Site_p.D17_splice|PDGFRA_uc003ham.2_Splice_Site	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	123	Ig-like C2-type 2.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TTAAACCACAGACCCAGATGT	0.378000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				56			45		0	0	0.014410	0	0
SIGLEC12	89858	broad.mit.edu	37	19	51995005	51995005	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:51995005C>T	uc002pwx.1	-	7	1734	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K	SIGLEC12_uc002pww.1_Missense_Mutation_p.E442K|SIGLEC12_uc010eoy.1_Missense_Mutation_p.E287K	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	560					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ATCTCTCCTTCCTCTGGGGAG	0.592000														64			32		0	0	0.012213	0	0
CATSPERD	257062	broad.mit.edu	37	19	5729904	5729904	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:5729904G>A	uc002mda.3	+	3	286	c.225G>A	c.(223-225)atG>atA	p.M75I	CATSPERD_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	75						integral to membrane											TTTTCACAATGGATAACTTTG	0.303000														50			36		0	0	0.005524	0	0
PRAMEF8	391002	broad.mit.edu	37	1	12979687	12979687	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:12979687C>T	uc001aup.3	+	3	962	c.879C>T	c.(877-879)tcC>tcT	p.S293S		NM_001012276	NP_001012277	Q5VWM4	PRAM8_HUMAN	Homo sapiens PRAME family member 8 (PRAMEF8), mRNA.	293												Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;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)		TCCAGGCCTCCTTGGAGATGG	0.547000														181			28		0	0	0.006999	0	0
SGSM1	129049	broad.mit.edu	37	22	25272680	25272680	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:25272680G>A	uc003abg.2	+	13	1750	c.1593G>A	c.(1591-1593)gaG>gaA	p.E531E	SGSM1_uc010guu.1_Silent_p.E476E|SGSM1_uc003abh.2_Silent_p.E531E|SGSM1_uc003abj.2_Silent_p.E476E|SGSM1_uc003abi.1_Silent_p.E451E	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	531						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GCAACCATGAGAGGTATGAGG	0.547000														50			28		0	0	0.006320	0	0
CLEC3B	7123	broad.mit.edu	37	3	45077106	45077106	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:45077106C>T	uc003cok.4	+	2	395	c.299C>T	c.(298-300)tCg>tTg	p.S100L		NM_003278	NP_003269	P05452	TETN_HUMAN	Homo sapiens C-type lectin domain family 3, member B (CLEC3B), mRNA.	100	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACTGCATCTCGCGCGGGGGC	0.637000														38			18		0	0	0.006122	0	0
TRIM36	55521	broad.mit.edu	37	5	114469656	114469656	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:114469656C>T	uc003kqs.3	-	7	1944	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	TRIM36_uc011cwc.2_Missense_Mutation_p.E467K|TRIM36_uc003kqt.3_Missense_Mutation_p.E324K	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.	479	Fibronectin type-III.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CTACTGTTTTCCAAGTCTTGA	0.378000														63			17		0	0	0.006122	0	0
VN1R2	317701	broad.mit.edu	37	19	53762278	53762278	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:53762278G>A	uc002qbi.2	+	0	734	c.650G>A	c.(649-651)tGg>tAg	p.W217*		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	217					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		ATCCTGTGCTGGGCCTTCCAC	0.443000														30			19		0	0	0.007413	0	0
TMEM175	84286	broad.mit.edu	37	4	951869	951869	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:951869G>A	uc003gbq.3	+	10	1198	c.1100G>A	c.(1099-1101)cGg>cAg	p.R367Q	TMEM175_uc003gbs.3_Missense_Mutation_p.R250Q|TMEM175_uc003gbt.3_Missense_Mutation_p.R250Q|TMEM175_uc003gbr.3_Missense_Mutation_p.R285Q	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	Homo sapiens transmembrane protein 175 (TMEM175), mRNA.	367						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCCTTCGCCCGGCAGCCCCGC	0.682000														55			4		0	0	0.000602	0	0
AURKC	6795	broad.mit.edu	37	19	57743452	57743452	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:57743452G>A	uc002qoe.3	+	2	345	c.156G>A	c.(154-156)ggG>ggA	p.G52G	AURKC_uc002qoc.3_Silent_p.G33G|AURKC_uc002qod.3_Silent_p.G18G|AURKC_uc010etv.3_Silent_p.G49G	NM_001015878	NP_003151	Q9UQB9	AURKC_HUMAN	Homo sapiens aurora kinase C (AURKC), transcript variant 1, mRNA.	52	Protein kinase.		G -> E (in a lung adenocarcinoma sample; somatic mutation).		cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	p.H52D(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		TGGGCAAGGGGAAATTTGGGA	0.547000														43			16		0	0	0.006122	0	0
C16orf62	57020	broad.mit.edu	37	16	19592973	19592973	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:19592973C>T	uc002dgn.2	+	6	952	c.637C>T	c.(637-639)Cag>Tag	p.Q213*	C16orf62_uc002dgo.2_Nonsense_Mutation_p.Q302*|C16orf62_uc002dgp.2_5'UTR|C16orf62_uc010vas.2_Non-coding_Transcript|C16orf62_uc002dgm.2_Nonsense_Mutation_p.Q302*	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	213						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						AATAGTCATCCAGGTTAGCTC	0.498000														44			22		0	0	0.012319	0	0
DCHS1	8642	broad.mit.edu	37	11	6651133	6651133	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:6651133G>A	uc001mem.1	-	10	5206	c.4805C>T	c.(4804-4806)tCc>tTc	p.S1602F		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	1602	Cadherin 15.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCGCACCACGGACAGCGCTCC	0.652000														44			9		0	0	0.006214	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973843	29973843	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:29973843C>T	uc004dby.2	+	10	2505	c.1997C>T	c.(1996-1998)tCg>tTg	p.S666L		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	666					innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CAGACAAAATCGAGCAGGGAG	0.532000														3			14		0	0	0.002450	0	0
ENPP1	5167	broad.mit.edu	37	6	132204911	132204911	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:132204911C>T	uc011ecf.2	+	21	2328	c.2308C>T	c.(2308-2310)Caa>Taa	p.Q770*		NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	770	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CCAGAGTTTTCAAGGTAAATA	0.274000														78			43		0	0	0.011902	0	0
HOOK3	84376	broad.mit.edu	37	8	42837793	42837793	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:42837793G>A	uc003xpr.3	+	13	1587	c.1345G>A	c.(1345-1347)Gag>Aag	p.E449K	HOOK3_uc010lxq.1_Missense_Mutation_p.E449K	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	Homo sapiens hook homolog 3 (Drosophila) (HOOK3), mRNA.	449					Golgi localization|cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	FHF complex|cis-Golgi network|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TGGAAGTCAGGAGTCTTCAGA	0.388000			T	RET	papillary thyroid									37			25		0	0	0.007291	0	0
NKX6-1	4825	broad.mit.edu	37	4	85419084	85419084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:85419084C>T	uc003hpa.1	-	0	304	c.298G>A	c.(298-300)Gat>Aat	p.D100N		NM_006168	NP_006159	P78426	NKX61_HUMAN	Homo sapiens NK6 homeobox 1 (NKX6-1), mRNA.	100				D -> N (in Ref. 1; AAD11962).	detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		CTCAGGATATCGTTGATGCCG	0.741000														6			5		0	0	0.000602	0	0
PMPCB	9512	broad.mit.edu	37	7	102948111	102948111	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:102948111G>A	uc003vbk.1	+	6	839	c.805G>A	c.(805-807)Gga>Aga	p.G269R	PMPCB_uc010liu.1_Missense_Mutation_p.G269R|PMPCB_uc003vbl.3_Missense_Mutation_p.G269R|PMPCB_uc011kll.1_Missense_Mutation_p.G164R|PMPCB_uc011klm.1_Missense_Mutation_p.G144R	NM_004279	NP_004270	O75439	MPPB_HUMAN	Homo sapiens peptidase (mitochondrial processing) beta (PMPCB), nuclear gene encoding mitochondrial protein, mRNA.	269					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACACACAAAGGAGAAATACC	0.393000														38			9		0	0	0.008291	0	0
TRHDE	29953	broad.mit.edu	37	12	72956677	72956677	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:72956677G>A	uc001sxa.3	+	8	1794	c.1764G>A	c.(1762-1764)atG>atA	p.M588I		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	588					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AAGAAGTAATGGATCAGTGGA	0.303000														81			20		0	0	0.014323	0	0
UBE4B	10277	broad.mit.edu	37	1	10161224	10161224	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:10161224C>T	uc021ogc.1	+	3	1094	c.406C>T	c.(406-408)Cga>Tga	p.R136*	UBE4B_uc001aqs.4_Nonsense_Mutation_p.R136*|UBE4B_uc001aqr.4_Nonsense_Mutation_p.R136*|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_5'UTR	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	136					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	p.R136Q(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGAAAATGATCGAAGAGAAAA	0.383000														42			26		0	0	0.004656	0	0
LOC100130776	100130776	broad.mit.edu	37	12	58121399	58121399	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:58121399G>A	uc001sps.4	+	1	791	c.624G>A	c.(622-624)ccG>ccA	p.P208P	AGAP2_uc001spq.3_Intron|AGAP2_uc001spp.3_Intron|AGAP2_uc001spr.3_Intron					Homo sapiens uncharacterized LOC100130776 (LOC100130776), non-coding RNA.																		GCTCCCAGCCGGGCAGCACAG	0.657000														9			3		0	0	0.004672	0	0
FBXL4	26235	broad.mit.edu	37	6	99322293	99322293	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:99322293G>A	uc003ppf.1	-	8	2085	c.1727C>T	c.(1726-1728)tCc>tTc	p.S576F	FBXL4_uc003ppg.1_Missense_Mutation_p.S576F|FBXL4_uc003pph.1_Missense_Mutation_p.S178F	NM_012160	NP_036292	Q9UKA2	FBXL4_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 4 (FBXL4), mRNA.	576					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TTTTCTTAAGGATGCCGGACT	0.348000														58			26		0	0	0.007291	0	0
MFSD4	148808	broad.mit.edu	37	1	205548947	205548947	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:205548947C>T	uc001hcv.4	+	1	385	c.299C>T	c.(298-300)cCc>cTc	p.P100L	MFSD4_uc010prk.2_Missense_Mutation_p.P100L|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Missense_Mutation_p.P45L	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA.	100					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GCCGTCATCCCCTTCTGCCGC	0.632000														68			40		0	0	0.010771	0	0
HMSD	284293	broad.mit.edu	37	18	61620722	61620722	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:61620722C>T	uc010dqj.3	+	1	182	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_001123366	NP_001116838	A8MTL9	HMSD_HUMAN	Homo sapiens histocompatibility (minor) serpin domain containing (HMSD), mRNA.	11						extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						CCATGGTTTTCATGGGGGCAA	0.413000														11			12		0	0	0.002450	0	0
GJA10	84694	broad.mit.edu	37	6	90605545	90605545	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:90605545G>A	uc011eaa.2	+	0	1358	c.1358G>A	c.(1357-1359)cGg>cAg	p.R453Q		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	453					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TCTGGTTCTCGGAATAGCTCC	0.522000														84			47		0	0	0.014410	0	0
OR2M7	391196	broad.mit.edu	37	1	248487663	248487663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:248487663C>T	uc010pzk.2	-	0	208	c.208G>A	c.(208-210)Gac>Aac	p.D70N		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCATGAGGTCCATGAGGGAC	0.512000														167			99		0	0	0.014410	0	0
RETNLB	84666	broad.mit.edu	37	3	108475404	108475404	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:108475404G>A	uc003dxh.2	-	1	257	c.159C>T	c.(157-159)ctC>ctT	p.L53L		NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN	Homo sapiens resistin like beta (RETNLB), mRNA.	53					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						TAGCACACGAGAGCTTCTTGC	0.527000														44			6		0	0	0.003080	0	0
C3orf15	89876	broad.mit.edu	37	3	119449180	119449180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:119449180G>A	uc003ede.4	+	7	1051	c.974G>A	c.(973-975)gGa>gAa	p.G325E	C3orf15_uc010hqy.2_Missense_Mutation_p.G325E|C3orf15_uc010hqz.3_Missense_Mutation_p.G263E|C3orf15_uc011bjd.2_Missense_Mutation_p.G199E|C3orf15_uc011bje.2_Missense_Mutation_p.G305E|C3orf15_uc010hra.2_Missense_Mutation_p.G86E	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	325						mitochondrion	protein binding	p.E324D(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		CTGCAGGAGGGAAAAGAGGCA	0.443000														80			38		0	0	0.004878	0	0
LOC494150	0	broad.mit.edu	37	12	51518553	51518553	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:51518553A>G	uc010snb.1	-	0	713	c.464T>C	c.(463-465)gTt>gCt	p.V155A	TFCP2_uc001rxw.3_Intron|TFCP2_uc001rxv.2_Intron|TFCP2_uc009zlx.2_Intron|TFCP2_uc009zly.1_Intron					Homo sapiens cDNA FLJ76366 complete cds, highly similar to Homo sapiens prohibitin pseudogene, mRNA.																		CTGCTGCTCAACCTTTTTCTG	0.572000														9			4		0	0	0.009096	0	0
PLB1	151056	broad.mit.edu	37	2	28843772	28843772	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:28843772C>T	uc002rmb.2	+	48	3498	c.3454C>T	c.(3454-3456)Ctc>Ttc	p.L1152F	PLB1_uc010ezj.2_Missense_Mutation_p.L1141F|PLB1_uc002rme.2_Missense_Mutation_p.L117F	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	1152	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.L1152I(2)|p.L1141I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAACCCTTACCTCCTTGGCTT	0.552000														46			46		0	0	0.014410	0	0
NLRP5	126206	broad.mit.edu	37	19	56539218	56539218	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:56539218G>A	uc002qmj.3	+	6	1619	c.1619G>A	c.(1618-1620)tGg>tAg	p.W540*	NLRP5_uc002qmi.3_Nonsense_Mutation_p.W521*	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	540	NACHT.					mitochondrion|nucleolus	ATP binding	p.W540*(1)		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)		GAGGGAGTGTGGAATAGGAAG	0.552000														19			9		0	0	0.006214	0	0
FREM2	341640	broad.mit.edu	37	13	39264977	39264977	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:39264977C>T	uc001uwv.3	+	0	3805	c.3496C>T	c.(3496-3498)Cgt>Tgt	p.R1166C		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1166					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)		ATTTGTATTTCGTTGTTCTGA	0.418000														103			49		0	0	0.014410	0	0
EP400	57634	broad.mit.edu	37	12	132529467	132529467	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:132529467G>A	uc001ujn.3	+	36	6905	c.6753G>A	c.(6751-6753)aaG>aaA	p.K2251K	EP400_uc021rgq.1_Silent_p.K2250K|EP400_uc001ujm.3_Silent_p.K2170K	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2287					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)		ACGTGAGGAAGGAGCGGAAGC	0.612000														44			30		0	0	0.009535	0	0
SPPL2C	162540	broad.mit.edu	37	17	43924026	43924026	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:43924026C>T	uc010wka.2	+	0	1771	c.1754C>T	c.(1753-1755)aCc>aTc	p.T585I	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	585						integral to membrane	aspartic-type endopeptidase activity										GAGATTGTCACCATATCTGAG	0.572000														74			48		0	0	0.014410	0	0
PVRL4	81607	broad.mit.edu	37	1	161049491	161049491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:161049491C>T	uc001fxo.2	-	1	627	c.328G>A	c.(328-330)Ggc>Agc	p.G110S		NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	110	Ig-like V-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGCACTGAGCCGTCCAGGGGG	0.692000														12			13		0	0	0.002450	0	0
KHDC1	80759	broad.mit.edu	37	6	73952230	73952230	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:73952230C>T	uc003pgo.3	-	2	731	c.230G>A	c.(229-231)gGa>gAa	p.G77E	KHDC1_uc011dyl.1_Non-coding_Transcript|KHDC1_uc003pgn.4_Missense_Mutation_p.G4E	NM_001251874	NP_001238803	Q4VXA5	KHDC1_HUMAN	Homo sapiens KH homology domain containing 1 (KHDC1), transcript variant 1, mRNA.	77						integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						AGCACTCGTTCCCATGTCCAT	0.527000														34			21		0	0	0.014323	0	0
EPHB3	2049	broad.mit.edu	37	3	184298401	184298401	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:184298401C>T	uc003foz.3	+	11	2821	c.2384C>T	c.(2383-2385)tCc>tTc	p.S795F		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	795	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TACACCAGTTCCCTGGTACAG	0.642000														23			28		0	0	0.009535	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616716	77616716	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:77616716C>T	uc003yau.2	+	1	780	c.393C>T	c.(391-393)atC>atT	p.I131I	ZFHX4_uc003yat.1_Silent_p.I131I|ZFHX4_uc003yaw.1_Silent_p.I131I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	131						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I131I(4)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGGGGAGATCGTTTACCAGC	0.493000										HNSCC(33;0.089)				57			25		0	0	0.003954	0	0
SGIP1	84251	broad.mit.edu	37	1	67147764	67147764	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:67147764C>T	uc001dcr.3	+	14	1244	c.1027C>T	c.(1027-1029)Cca>Tca	p.P343S	SGIP1_uc010opd.2_Intron|SGIP1_uc001dcs.3_Intron|SGIP1_uc001dct.3_Intron|SGIP1_uc009wat.3_Missense_Mutation_p.P110S	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	343	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ACCAGACAACCCAGCTGACTC	0.587000														138			57		0	0	0.014410	0	0
MYCBP2	23077	broad.mit.edu	37	13	77730262	77730262	+	Silent	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:77730262A>G	uc021rks.1	-	45	7113	c.6846T>C	c.(6844-6846)ggT>ggC	p.G2282G	MYCBP2_uc010aev.3_Silent_p.G1648G	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	2244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGGTAGGCCAACCACAACGAA	0.373000														42			21		0	0	0.012319	0	0
NLRP7	199713	broad.mit.edu	37	19	55451638	55451638	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:55451638C>T	uc002qih.4	-	3	625	c.549G>A	c.(547-549)ggG>ggA	p.G183G	NLRP7_uc010esk.3_Silent_p.G183G|NLRP7_uc002qig.4_Silent_p.G183G|NLRP7_uc002qii.4_Silent_p.G183G|NLRP7_uc010esl.3_Silent_p.G211G	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	183	NACHT.						ATP binding	p.V182M(1)		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)		GCGTGGTTTTCCCCACGCCTG	0.562000														61			37		0	0	0.003271	0	0
CXCR2	3579	broad.mit.edu	37	2	219000202	219000202	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:219000202C>T	uc002vgz.2	+	3	888	c.678C>T	c.(676-678)atC>atT	p.I226I	CXCR2_uc002vha.2_Silent_p.I226I|CXCR2_uc002vhb.2_Silent_p.I226I|CXCR2_uc021vwp.1_Silent_p.I226I	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	226					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CACTGCTGATCATGCTGTTCT	0.567000														115			41		0	0	0.010771	0	0
FGF5	2250	broad.mit.edu	37	4	81196108	81196108	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:81196108G>A	uc003hmd.3	+	1	638	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	FGF5_uc003hme.3_Intron	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	134					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						GTAGGAATACGAGGAGTTTTC	0.343000														23			14		0	0	0.008871	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167914	140167914	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140167914C>T	uc003lhb.2	+	0	2039	c.2039C>T	c.(2038-2040)tCg>tTg	p.S680L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Missense_Mutation_p.S680L	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	689	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)			AAGGCGTCTTCGCGGGCGTCG	0.657000														48			15		0	0	0.003163	0	0
AKR1C3	8644	broad.mit.edu	37	10	5144305	5144305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:5144305C>T	uc001ihr.3	+	5	766	c.583C>T	c.(583-585)Ccg>Tcg	p.P195S	AKR1C3_uc021pml.1_Missense_Mutation_p.P195S|AKR1C3_uc010qap.2_Missense_Mutation_p.P172S|AKR1C3_uc001ihu.3_Missense_Mutation_p.P195S	NM_003739	NP_003730	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) (AKR1C3), transcript variant 1, mRNA.	195					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	AGAATGTCATCCGTATTTCAA	0.358000														38			18		0	0	0.010504	0	0
HSD17B14	51171	broad.mit.edu	37	19	49334994	49334994	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:49334994C>T	uc002pkv.1	-	4	566	c.300G>A	c.(298-300)gaG>gaA	p.E100E	HSD17B14_uc010emk.1_Silent_p.E100E	NM_016246	NP_057330	Q9BPX1	DHB14_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 14 (HSD17B14), mRNA.	100					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity	p.E100D(2)		large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		CAGAGGTCTCCTCAGGCCTCT	0.632000														46			35		0	0	0.005524	0	0
SV2A	9900	broad.mit.edu	37	1	149885369	149885369	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:149885369C>T	uc001etg.3	-	1	515	c.24G>A	c.(22-24)cgG>cgA	p.R8R	SV2A_uc001eth.2_Silent_p.R8R	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	8	Interaction with SYT1 (By similarity).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGAAAGCTGCCCGGTCTCGGA	0.527000														73			24		0	0	0.005443	0	0
OR5A1	219982	broad.mit.edu	37	11	59210722	59210723	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:59210722_59210723GG>AA	uc001nnx.1	+	0	81_82	c.81_82GG>AA	c.(79-84)caggcc>caAAcc	p.A28T		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A28A(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CAGAACTCCAGGCCCTCCTCTT	0.540000														52			57		0	0	0.004672	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315537	30315537	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:30315537C>T	uc009xle.2	-	2	3677	c.3540G>A	c.(3538-3540)ggG>ggA	p.G1180G	KIAA1462_uc001iux.3_Silent_p.G1180G|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Silent_p.G1042G	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1180										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGGTGACAACCCCGTCCACAT	0.582000														137			44		0	0	0.014410	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895461	42895461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:42895461G>A	uc003gwt.3	+	0	179	c.178G>A	c.(178-180)Gga>Aga	p.G60R		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	60					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TGATTCCGATGGACAGCAGAA	0.498000														150			69		0	0	0.014410	0	0
PDPK1	5170	broad.mit.edu	37	16	2636802	2636802	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:2636802C>T	uc002cqs.3	+	10	1395	c.1251C>T	c.(1249-1251)caC>caT	p.H417H	PDPK1_uc002cqt.3_Silent_p.H290H|PDPK1_uc010bsn.3_Silent_p.H417H|PDPK1_uc002cqu.3_Silent_p.H390H	NM_002613	NP_002604	O15530	PDPK1_HUMAN	Homo sapiens 3-phosphoinositide dependent protein kinase-1 (PDPK1), transcript variant 1, mRNA.	417					T cell costimulation|T cell receptor signaling pathway|actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding	p.H417H(2)		central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	AGTACATTCACGATCTGGACT	0.542000														74			27		0	0	0.008361	0	0
GEMIN5	25929	broad.mit.edu	37	5	154278121	154278121	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:154278121G>A	uc003lvx.3	-	22	3307	c.3224C>T	c.(3223-3225)gCt>gTt	p.A1075V	GEMIN5_uc011ddk.1_Missense_Mutation_p.A1074V	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	1075					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TACGATGGCAGCCAACTCTGC	0.532000														39			33		0	0	0.013726	0	0
CEP250	11190	broad.mit.edu	37	20	34050232	34050232	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:34050232C>T	uc021wco.1	+	3	687	c.40C>T	c.(40-42)Cag>Tag	p.Q14*	CEP250_uc010zve.2_5'UTR|CEP250_uc021wcn.1_Nonsense_Mutation_p.Q14*|CEP250_uc010gfe.1_Non-coding_Transcript|CEP250_uc010zvd.2_Non-coding_Transcript	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	14					G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CATGAAGCCCCAGTCACTGCA	0.592000														9			3		0	0	0.009096	0	0
FAM129B	64855	broad.mit.edu	37	9	130269305	130269305	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:130269305G>C	uc004brh.3	-	13	2262	c.2060C>G	c.(2059-2061)gCc>gGc	p.A687G	FAM129B_uc004bri.3_Missense_Mutation_p.A674G|FAM129B_uc004brj.4_3'UTR	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	687							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GGCCTCGGGGGCGGCCTTAGG	0.731000														2			9		0	0	0.004482	0	0
PSD	5662	broad.mit.edu	37	10	104165244	104165244	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:104165244G>A	uc001kvg.1	-	11	2712	c.2185C>T	c.(2185-2187)Ccc>Tcc	p.P729S	PSD_uc001kvh.1_Missense_Mutation_p.P350S|PSD_uc009xxd.1_Missense_Mutation_p.P729S	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	729					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		ATGACCTTGGGGTTGGGGTCG	0.672000														51			13		0	0	0.013537	0	0
OR6C65	403282	broad.mit.edu	37	12	55794506	55794506	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:55794506C>T	uc010spl.2	+	0	194	c.194C>T	c.(193-195)tCt>tTt	p.S65F		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						AGGAATTTCTCTTTCTTAGAA	0.333000														29			19		0	0	0.006122	0	0
CHTF18	63922	broad.mit.edu	37	16	843212	843212	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:843212G>A	uc002ckf.4	+	12	1887	c.1824G>A	c.(1822-1824)aaG>aaA	p.K608K	CHTF18_uc010bre.1_Non-coding_Transcript|CHTF18_uc002cke.4_Silent_p.K580K|CHTF18_uc010brf.3_Silent_p.K162K|CHTF18_uc002ckg.4_Silent_p.K98K	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	Homo sapiens CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) (CHTF18), mRNA.	580					DNA replication|cell cycle	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				TGGGCCTCAAGGACCAGCGCA	0.687000														7			8		0	0	0.004482	0	0
CMYA5	202333	broad.mit.edu	37	5	79032757	79032757	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:79032757C>T	uc003kgc.3	+	1	8241	c.8169C>T	c.(8167-8169)ttC>ttT	p.F2723F		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2723						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)		CTAAGACTTTCCTGCCAGTGG	0.393000														16			15		0	0	0.003163	0	0
ELF2	1998	broad.mit.edu	37	4	139980139	139980139	+	Nonstop_Mutation	SNP	A	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:139980139A>C	uc003ihp.1	-	8	1995	c.1744T>G	c.(1744-1746)Taa>Gaa	p.*582E	ELF2_uc003ihm.1_Nonstop_Mutation_p.*534E|ELF2_uc003ihn.1_Nonstop_Mutation_p.*522E|ELF2_uc003iho.1_Nonstop_Mutation_p.*505E|ELF2_uc011chc.1_Nonstop_Mutation_p.*397E	NM_201999	NP_973728	Q15723	ELF2_HUMAN	Homo sapiens E74-like factor 2 (ets domain transcription factor) (ELF2), transcript variant 1, mRNA.	0					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					CTGCTATTTTATTTCTCACAT	0.418000														46			32		0	0	0.003271	0	0
AXIN1	8312	broad.mit.edu	37	16	396430	396431	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:396430_396431GG>AA	uc002cgp.2	-	1	984_985	c.595_596CC>TT	c.(595-597)ccc>TTc	p.P199F	AXIN1_uc002cgq.2_Missense_Mutation_p.P199F	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	199	RGS.				Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				AAGGAAGGAGGGATAGGTGTTT	0.510000											OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		34			38		0	0	0.004672	0	0
CFHR2	3080	broad.mit.edu	37	1	196918592	196918592	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:196918592C>T	uc001gtq.1	+	1	143	c.66C>T	c.(64-66)ttC>ttT	p.F22F	CFHR2_uc001gtr.1_Intron	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	22	Sushi 1.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						CAGCAATGTTCTGTGATTTTC	0.289000														17			14		0	0	0.002450	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19415799	19415799	+	RNA	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:19415799T>C	uc010tcj.1	-	0		c.30311A>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		CTATGACATATATTTTCTGAT	0.289000														24			15		0	0	0.004007	0	0
FRAS1	80144	broad.mit.edu	37	4	79205703	79205703	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:79205703G>A	uc003hlb.2	+	13	1839	c.1399_splice	c.e13+1	p.A467_splice	FRAS1_uc003hkw.3_Splice_Site_p.A467_splice|FRAS1_uc003hky.1_Splice_Site_p.A171_splice|FRAS1_uc003hkz.3_Splice_Site_p.A171_splice|FRAS1_uc003hla.1_5'Flank	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	467					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						CTCTGTTTAGGTATGGCTCCA	0.498000														72			38		0	0	0.004289	0	0
COL4A4	1286	broad.mit.edu	37	2	227914842	227914842	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:227914842C>T	uc021vxr.1	-	32	3257	c.3156G>A	c.(3154-3156)gaG>gaA	p.E1052E	COL4A4_uc021vxs.1_Silent_p.E1052E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1052	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)		GAGAACCTGGCTCACCCTGAC	0.408000														42			34		0	0	0.004878	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634843	70634843	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:70634843C>T	uc001xly.3	-	1	1051	c.297G>A	c.(295-297)atG>atA	p.M99I	SLC8A3_uc001xlw.3_Missense_Mutation_p.M99I|SLC8A3_uc001xlx.3_Missense_Mutation_p.M99I|SLC8A3_uc001xlz.3_Missense_Mutation_p.M99I|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.	99					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)		CAATAGATGCCATGAAGCGGT	0.473000														30			12		0	0	0.010729	0	0
MYO5B	4645	broad.mit.edu	37	18	47480796	47480796	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:47480796C>T	uc002leb.2	-	12	1843	c.1555G>A	c.(1555-1557)Gga>Aga	p.G519R	MYO5B_uc021ukb.1_Missense_Mutation_p.G518R	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	519	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGGTCAGTTCCTTTGGGGACC	0.577000														36			27		0	0	0.005443	0	0
STAB2	55576	broad.mit.edu	37	12	104157375	104157375	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:104157375G>A	uc001tjw.3	+	67	7780	c.7594G>A	c.(7594-7596)Gac>Aac	p.D2532N	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	2532					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACCTTCCTACGACCCCTTCAC	0.478000														146			66		0	0	0.014410	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140772607	140772607	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140772607C>T	uc003lkd.2	+	0	1125	c.227C>T	c.(226-228)gCt>gTt	p.A76V	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_uc003lkb.4_Missense_Mutation_p.A76V|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	76	Cadherin 1.				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)			CAGCTCTTTGCTCTGAACCCG	0.602000														25			22		0	0	0.003330	0	0
DNAH8	1769	broad.mit.edu	37	6	38702293	38702293	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:38702293G>A	uc021yzh.1	+	4	763	c.654G>A	c.(652-654)atG>atA	p.M218I	DNAH8_uc003ooe.2_Missense_Mutation_p.M1I	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						GGGCAAAAATGATGAAATTGT	0.343000														91			50		0	0	0.014410	0	0
MAPK10	5602	broad.mit.edu	37	4	87023061	87023061	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:87023061C>T	uc003hps.3	-	6	1236	c.550G>A	c.(550-552)Gga>Aga	p.G184R	MAPK10_uc010ikg.3_Missense_Mutation_p.G146R|MAPK10_uc003hpr.3_Missense_Mutation_p.G146R|MAPK10_uc003hpt.3_Missense_Mutation_p.G184R|MAPK10_uc003hpu.3_Missense_Mutation_p.G184R|MAPK10_uc003hpv.3_Missense_Mutation_p.G39R|MAPK10_uc010ikh.1_Non-coding_Transcript|MAPK10_uc003hpn.3_5'Flank|MAPK10_uc011ccw.2_Missense_Mutation_p.G70R|MAPK10_uc003hpo.3_Missense_Mutation_p.G39R|MAPK10_uc003hpp.3_Missense_Mutation_p.G39R	NM_138982	NP_620446	P53779	MK10_HUMAN	Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA.	184	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|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|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		TGAATAATTCCAGCAGAATGG	0.398000														83			34		0	0	0.010818	0	0
WDTC1	23038	broad.mit.edu	37	1	27631591	27631591	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:27631591C>T	uc009vst.2	+	14	2278	c.1743C>T	c.(1741-1743)tcC>tcT	p.S581S	WDTC1_uc001bno.3_Silent_p.S580S|WDTC1_uc001bnp.1_Non-coding_Transcript|WDTC1_uc001bnq.3_Silent_p.S259S	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	Homo sapiens WD and tetratricopeptide repeats 1 (WDTC1), mRNA.	581							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GGGATGAGTCCATTGTCAACT	0.587000														28			16		0	0	0.006122	0	0
DDX60	55601	broad.mit.edu	37	4	169212958	169212958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:169212958C>T	uc003irp.3	-	7	1274	c.982G>A	c.(982-984)Gct>Act	p.A328T		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	328							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CTAGCACAAGCTCTTTGAGAA	0.388000														36			21		0	0	0.014323	0	0
DCC	1630	broad.mit.edu	37	18	50937012	50937012	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:50937012G>A	uc002lfe.2	+	19	3742	c.3126G>A	c.(3124-3126)ctG>ctA	p.L1042L	DCC_uc010xdr.1_Silent_p.L870L|DCC_uc010dpf.2_Silent_p.L677L	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1042					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.L1042M(1)		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)		TCAGGACTCTGAAAGGTTTGA	0.388000														29			24		0	0	0.003954	0	0
ZNF462	58499	broad.mit.edu	37	9	109691428	109691428	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:109691428C>T	uc004bcz.3	+	2	5524	c.5235C>T	c.(5233-5235)atC>atT	p.I1745I	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Silent_p.I1593I|ZNF462_uc004bda.3_Silent_p.I1593I	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1745					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAGTGATCATCCCATCCCCGC	0.572000														12			13		0	0	0.003163	0	0
ACTL7B	10880	broad.mit.edu	37	9	111618190	111618190	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:111618190G>A	uc004bdi.3	-	0	86	c.21C>T	c.(19-21)ccC>ccT	p.P7P		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	7						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCAGGGGCATGGGGCTGTTCC	0.662000														23			17		0	0	0.007413	0	0
DNAH7	56171	broad.mit.edu	37	2	196746621	196746621	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:196746621C>T	uc002utj.4	-	35	5960	c.5859G>A	c.(5857-5859)ctG>ctA	p.L1953L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1953	AAA 3 (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						GAATTGTGTCCAGAGTTGGCA	0.373000														49			43		0	0	0.008740	0	0
DAPK1	1612	broad.mit.edu	37	9	90321520	90321520	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:90321520C>T	uc004apc.3	+	25	3672	c.3534C>T	c.(3532-3534)aaC>aaT	p.N1178N	DAPK1_uc004apd.3_Silent_p.N1178N|DAPK1_uc011ltg.2_Silent_p.N1112N|DAPK1_uc011lth.2_Silent_p.N915N|DAPK1_uc004apg.2_Silent_p.N155N	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	1178					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AGCTGGCCAACCGTGGGGCCG	0.642000									Chronic Lymphocytic Leukemia, Familial Clustering of					5			10		0	0	0.006214	0	0
FSCB	84075	broad.mit.edu	37	14	44975965	44975965	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:44975965C>T	uc001wvn.3	-	0	535	c.226G>A	c.(226-228)Gac>Aac	p.D76N		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	76						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ACAATGGTGTCTGTCTGGAGA	0.413000														103			54		0	0	0.014410	0	0
GPR65	8477	broad.mit.edu	37	14	88477678	88477678	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:88477678G>A	uc021rxh.1	+	0	487	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	GPR65_uc001xvv.3_Missense_Mutation_p.E163K	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	163					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TTGCGATGCCGAAAAGTCTAA	0.393000														59			36		0	0	0.003271	0	0
TMEM115	11070	broad.mit.edu	37	3	50395886	50395886	+	Silent	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:50395886T>C	uc003dan.1	-	0	1054	c.609A>G	c.(607-609)gtA>gtG	p.V203V	Mir_324_uc021wyp.1_5'Flank	NM_007024	NP_008955	Q12893	TM115_HUMAN	Homo sapiens transmembrane protein 115 (TMEM115), mRNA.	203					negative regulation of cell proliferation	Golgi apparatus|integral to membrane|nucleus				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGCGAAGATATACCCAACTGG	0.637000														29			10		0	0	0.010729	0	0
ESPNL	339768	broad.mit.edu	37	2	239016574	239016574	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:239016574G>A	uc002vxq.4	+	3	925	c.815G>A	c.(814-816)gGg>gAg	p.G272E	ESPNL_uc010fyw.3_Missense_Mutation_p.G12E	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	272										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TCCTGGGGTGGGACCCCCCTC	0.657000														21			5		0	0	0.000602	0	0
NCOA6	23054	broad.mit.edu	37	20	33328842	33328842	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:33328842G>A	uc002xav.3	-	11	7789	c.5218C>T	c.(5218-5220)Cct>Tct	p.P1740S	NCOA6_uc002xaw.3_Missense_Mutation_p.P1740S|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Missense_Mutation_p.P1740S|NCOA6_uc021wcf.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	1740	EP300/CRSP3-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						AGCTGAACAGGGGTGGCTCGT	0.522000														74			45		0	0	0.013114	0	0
SLC25A24	29957	broad.mit.edu	37	1	108700165	108700165	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:108700165C>T	uc001dvn.4	-	4	802	c.588G>A	c.(586-588)agG>agA	p.R196R	SLC25A24_uc001dvm.3_Silent_p.R177R	NM_013386	NP_037518	Q6NUK1	SCMC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 (SLC25A24), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	196					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		CCAAAAGCTGCCTCCACCATT	0.443000														77			14		0	0	0.002450	0	0
ADAM18	8749	broad.mit.edu	37	8	39506020	39506020	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:39506020G>A	uc003xni.3	+	11	1259	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	ADAM18_uc010lww.3_Intron|ADAM18_uc010lwx.3_Missense_Mutation_p.E378K	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	402	Disintegrin.				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)			GGAATCCAATGAAGAATGTGA	0.323000														22			14		0	0	0.003163	0	0
NMUR2	56923	broad.mit.edu	37	5	151777675	151777675	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:151777675C>T	uc003luv.2	-	1	923	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	253					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)			GCATTCCCTTCATCTGCCTCA	0.363000														37			22		0	0	0.002780	0	0
XIRP2	129446	broad.mit.edu	37	2	168100438	168100438	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:168100438G>A	uc002udx.3	+	8	2625	c.2536G>A	c.(2536-2538)Gaa>Aaa	p.E846K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E671K|XIRP2_uc010fpq.3_Missense_Mutation_p.E624K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	671					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						TTGGATGTTTGAAACCCAGCC	0.373000														80			21		0	0	0.012319	0	0
NPTX2	4885	broad.mit.edu	37	7	98256641	98256641	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:98256641C>T	uc003upl.2	+	3	1230	c.1053C>T	c.(1051-1053)atC>atT	p.I351I		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	351	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GCGTGCTGATCCTTGGACAAG	0.672000														24			16		0	0	0.003163	0	0
PCLO	27445	broad.mit.edu	37	7	82545000	82545000	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:82545000G>A	uc003uhx.2	-	6	12591	c.12302C>T	c.(12301-12303)tCc>tTc	p.S4101F	PCLO_uc003uhv.2_Missense_Mutation_p.S4101F|PCLO_uc010lec.3_Missense_Mutation_p.S1066F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4032					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAATCTAGAGGAAGACTGTAA	0.438000														17			17		0	0	0.004990	0	0
PROM2	150696	broad.mit.edu	37	2	95941749	95941749	+	Silent	SNP	T	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:95941749T>G	uc002suk.3	+	2	499	c.366T>G	c.(364-366)acT>acG	p.T122T	PROM2_uc002suh.2_Silent_p.T122T|PROM2_uc002sui.3_Silent_p.T122T|PROM2_uc002suj.3_5'UTR|PROM2_uc002sul.3_5'UTR	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	122						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TGGTGCCCACTGCCGGGCTTT	0.692000														15			4		0	0	0.000602	0	0
NBEA	26960	broad.mit.edu	37	13	35517126	35517126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:35517126C>T	uc021rid.1	+	0	703	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S	NBEA_uc021ric.1_Missense_Mutation_p.P57S	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	57						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GGTGATGCTCCCCGCGGGGAT	0.677000														42			19		0	0	0.006122	0	0
CDKL3	51265	broad.mit.edu	37	5	133644076	133644076	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:133644076G>A	uc003kzf.4	-	8	1236	c.1117C>T	c.(1117-1119)Cca>Tca	p.P373S	CDKL3_uc011cxm.1_Missense_Mutation_p.P180S|CDKL3_uc011cxn.1_Non-coding_Transcript|CDKL3_uc010jdw.2_5'UTR|CDKL3_uc011cxo.1_Missense_Mutation_p.P78S|CDKL3_uc011cxp.1_Missense_Mutation_p.P78S|CDKL3_uc011cxq.2_Missense_Mutation_p.P180S|CDKL3_uc003kzg.4_Missense_Mutation_p.P373S	NM_001113575	NP_001107047	Q8IVW4	CDKL3_HUMAN	Homo sapiens cyclin-dependent kinase-like 3 (CDKL3), transcript variant 1, mRNA.	373						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCTTTTTTGGTTCTGAGATA	0.373000														29			26		0	0	0.003954	0	0
TLL2	7093	broad.mit.edu	37	10	98146728	98146728	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:98146728C>T	uc001kml.2	-	13	2075	c.1834G>A	c.(1834-1836)Gat>Aat	p.D612N		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	612	EGF-like 1; calcium-binding (Potential).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		ATCTTCTTATCGGCGGCCAGC	0.577000														57			46		0	0	0.014410	0	0
SGK1	6446	broad.mit.edu	37	6	134491456	134491456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:134491456C>T	uc003qen.4	-	11	1335	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K	SGK1_uc003qeo.4_Missense_Mutation_p.E511K|SGK1_uc011ect.2_Missense_Mutation_p.E406K|SGK1_uc011ecu.2_Missense_Mutation_p.E372K|SGK1_uc011ecv.2_Missense_Mutation_p.E430K|SGK1_uc011ecw.2_Missense_Mutation_p.E444K	NM_005627	NP_005618	O00141	SGK1_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA.	416	AGC-kinase C-terminal.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		AGGAAAGCCTCGGCAGCTTCC	0.532000														63			23		0	0	0.002780	0	0
SP140	11262	broad.mit.edu	37	2	231112730	231112730	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:231112730G>A	uc002vql.3	+	7	957	c.842G>A	c.(841-843)aGa>aAa	p.R281K	SP140_uc010zma.1_Intron|SP140_uc002vqk.2_Missense_Mutation_p.R281K|SP140_uc002vqn.3_Intron|SP140_uc002vqm.3_Missense_Mutation_p.R255K|SP140_uc010fxl.3_Missense_Mutation_p.R281K	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	281					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCCAGAAAAAGAAACCAAGAC	0.493000														33			25		0	0	0.002780	0	0
SMTNL1	219537	broad.mit.edu	37	11	57311208	57311208	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:57311208G>A	uc021qjh.1	+	1	846	c.844G>A	c.(844-846)Gag>Aag	p.E282K		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.	282										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CCCCACTGGGGAGGGGCACAA	0.647000														7			4		0	0	0.009096	0	0
HTR3B	9177	broad.mit.edu	37	11	113816638	113816639	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:113816638_113816639GG>AA	uc001pok.3	+	8	1243_1244	c.1105_1106GG>AA	c.(1105-1107)gga>AAa	p.G369K	HTR3B_uc001pol.3_Missense_Mutation_p.G358K	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	369					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CTCGCTGTATGGAGAGCACCTG	0.550000														25			9		0	0	0.004672	0	0
ARMC4	55130	broad.mit.edu	37	10	28223958	28223958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:28223958C>T	uc009xky.3	-	15	2574	c.2476G>A	c.(2476-2478)Gta>Ata	p.V826I	ARMC4_uc010qds.2_Missense_Mutation_p.V351I|ARMC4_uc010qdt.2_Missense_Mutation_p.V518I|ARMC4_uc001itz.3_Missense_Mutation_p.V826I	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	826							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCAGGTTCTACTGCACAAGCA	0.423000														54			43		0	0	0.011902	0	0
SELL	6402	broad.mit.edu	37	1	169676557	169676557	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:169676557C>T	uc010pls.2	-	1	474	c.365G>A	c.(364-366)gGa>gAa	p.G122E	C1orf112_uc001ggj.3_Intron|SELL_uc001ggk.3_Missense_Mutation_p.G182E|SELL_uc001ggl.2_Missense_Mutation_p.G182E	NM_000655	NP_000646	P14151	LYAM1_HUMAN	Homo sapiens selectin L (SELL), transcript variant 1, mRNA.	169	C-type lectin.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding	p.K122N(1)|p.K122*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					TACACATTCTCCATGGCCACT	0.393000														24			17		0	0	0.007413	0	0
ATP7B	540	broad.mit.edu	37	13	52523879	52523879	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:52523879G>A	uc001vfw.2	-	11	2941	c.2784C>T	c.(2782-2784)atC>atT	p.I928I	ATP7B_uc001vfy.2_Silent_p.I817I|ATP7B_uc010adv.2_Silent_p.I498I|ATP7B_uc001vfx.2_Intron|ATP7B_uc010tgt.1_Silent_p.I928I|ATP7B_uc010tgu.1_Silent_p.I880I|ATP7B_uc010tgv.1_Silent_p.I850I|ATP7B_uc001vfv.2_Silent_p.I200I|ATP7B_uc010tgs.1_Silent_p.I200I	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	928					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ACATGATGATGATAAATGGGA	0.403000									Wilson disease					69			30		0	0	0.003271	0	0
MTSS1L	92154	broad.mit.edu	37	16	70698331	70698331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:70698331G>A	uc002ezj.3	-	14	1753	c.1493C>T	c.(1492-1494)tCc>tTc	p.S498F		NM_138383	NP_612392	Q765P7	MTSSL_HUMAN	Homo sapiens metastasis suppressor 1-like (MTSS1L), mRNA.	498					filopodium assembly|signal transduction		SH3 domain binding|actin binding|cytoskeletal adaptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						CCCATTCACGGAGTAGCAGTC	0.672000														11			3		0	0	0.004672	0	0
TTC40	54777	broad.mit.edu	37	10	134754509	134754509	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:134754509C>T	uc021qbc.1	-	3	463	c.362G>A	c.(361-363)gGa>gAa	p.G121E	TTC40_uc001llt.2_Missense_Mutation_p.G121E|TTC40_uc001llu.3_Missense_Mutation_p.G121E	NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	0										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CCTCGGTTCTCCTTTGGCAAA	0.428000											OREG0020643	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		23			19		0	0	0.008871	0	0
CDH16	1014	broad.mit.edu	37	16	66945091	66945091	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:66945091C>T	uc002eql.3	-	13	2112	c.1918G>A	c.(1918-1920)Gat>Aat	p.D640N	CDH16_uc010cdy.3_Missense_Mutation_p.D640N|CDH16_uc021tjx.1_Missense_Mutation_p.D640N|CDH16_uc002eqm.3_Missense_Mutation_p.D543N	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	640	Cadherin 6.				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)		ATACCTGTATCCTGGGCCTCC	0.632000														17			11		0	0	0.001855	0	0
CACNA1E	777	broad.mit.edu	37	1	181762924	181762924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:181762924C>T	uc009wxt.3	+	44	6217	c.6022C>T	c.(6022-6024)Ccc>Tcc	p.P2008S	CACNA1E_uc001gow.3_Intron|CACNA1E_uc009wxs.3_Intron	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2008					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R2007C(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GACTGTGGATCCCCAGGTAAA	0.512000														11			11		0	0	0.013537	0	0
F5	2153	broad.mit.edu	37	1	169509984	169509984	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:169509984G>A	uc001ggg.1	-	12	4489	c.4344C>T	c.(4342-4344)ctC>ctT	p.L1448L		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1448	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGAGATCCGGGAGAAGGGTGG	0.473000														38			27		0	0	0.004656	0	0
COG7	91949	broad.mit.edu	37	16	23428399	23428399	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:23428399G>A	uc002dlo.3	-	8	1378	c.1181C>T	c.(1180-1182)tCc>tTc	p.S394F		NM_153603	NP_705831	P83436	COG7_HUMAN	Homo sapiens component of oligomeric golgi complex 7 (COG7), mRNA.	394					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CTTGTTCACGGAGTGGCTCAG	0.532000														32			14		0	0	0.003163	0	0
EIF2C4	192670	broad.mit.edu	37	1	36282515	36282515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:36282515C>T	uc001bzj.2	+	1	242	c.52C>T	c.(52-54)Cgt>Tgt	p.R18C		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 4 (EIF2C4), mRNA.	18					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding	p.R17H(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCCACCTCGTCGTCCTGGCCT	0.378000														82			60		0	0	0.014410	0	0
OR6X1	390260	broad.mit.edu	37	11	123624553	123624553	+	Missense_Mutation	SNP	C	T	T	rs140203672	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:123624553C>T	uc010rzy.2	-	0	674	c.674G>A	c.(673-675)cGa>cAa	p.R225Q		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGAAGGAATTCGTAGGATTGC	0.473000														14			24		0	0	0.003954	0	0
PPFIA2	8499	broad.mit.edu	37	12	81734917	81734917	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:81734917G>A	uc001szo.2	-	19	2494	c.2333C>T	c.(2332-2334)aCc>aTc	p.T778I	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.T704I|PPFIA2_uc021rbh.1_Missense_Mutation_p.T679I|PPFIA2_uc021rbi.1_Missense_Mutation_p.T778I|PPFIA2_uc021rbj.1_Missense_Mutation_p.T778I|PPFIA2_uc021rbk.1_Missense_Mutation_p.T760I|PPFIA2_uc021rbl.1_Missense_Mutation_p.T778I|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.T345I|PPFIA2_uc021rbf.1_5'UTR	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	704								p.P777_T778insP(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GGCTCTAGGGGTAGGAGGAGG	0.448000														38			36		0	0	0.013726	0	0
FAM65B	9750	broad.mit.edu	37	6	24850074	24850074	+	Silent	SNP	G	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:24850074G>T	uc003neo.1	-	10	1079	c.903C>A	c.(901-903)atC>atA	p.I301I	FAM65B_uc011djs.1_Silent_p.I330I|FAM65B_uc011dju.2_Silent_p.I335I|FAM65B_uc003nep.3_Silent_p.I301I|FAM65B_uc011djt.2_Silent_p.I301I	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	Homo sapiens family with sequence similarity 65, member B (FAM65B), transcript variant 1, mRNA.	301					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						CAAGGTCATTGATGTCGACAG	0.483000														194			100		7.4264e-54	8.30527e-54	0.014410	1	0
IL1RAPL2	26280	broad.mit.edu	37	X	104999228	104999229	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:104999228_104999229AC>TT	uc004elz.1	+	9	2006_2007	c.1250_1251AC>TT	c.(1249-1251)gac>gTT	p.D417V		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	417	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GATACTTTAGACTGTGACAATC	0.381000														23			50		0	0	0.004672	0	0
PRKAG3	53632	broad.mit.edu	37	2	219695545	219695545	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:219695545C>T	uc002vjb.1	-	2	172	c.153G>A	c.(151-153)ggG>ggA	p.G51G	PRKAG3_uc010zkn.1_Non-coding_Transcript|PRKAG3_uc010fvy.1_Silent_p.G51G|PRKAG3_uc010zko.1_Silent_p.G51G	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3), mRNA.	51					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTCCGTTTCCCACGGATTC	0.587000														54			48		0	0	0.014410	0	0
PPP1R10	5514	broad.mit.edu	37	6	30569862	30569862	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:30569862C>T	uc003nqn.1	-	18	3116	c.2564G>A	c.(2563-2565)gGg>gAg	p.G855E	PPP1R10_uc010jsc.1_Missense_Mutation_p.G509E	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	855	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCCATGGGGCCCCCCGTGTCC	0.672000														39			18		0	0	0.007413	0	0
PAK7	57144	broad.mit.edu	37	20	9546725	9546725	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:9546725G>A	uc002wnl.2	-	5	1842	c.1297C>T	c.(1297-1299)Cgg>Tgg	p.R433W	PAK7_uc002wnk.2_Missense_Mutation_p.R433W|PAK7_uc002wnj.2_Missense_Mutation_p.R433W|PAK7_uc010gby.1_Missense_Mutation_p.R433W	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	433	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGGGCCGCCCGAAACTGTTCA	0.627000														52			33		0	0	0.010818	0	0
DOCK6	57572	broad.mit.edu	37	19	11338069	11338069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:11338069C>T	uc002mqs.4	-	23	2940	c.2899G>A	c.(2899-2901)Gac>Aac	p.D967N	DOCK6_uc010xlq.2_Missense_Mutation_p.D306N	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	967					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GCAGTGATGTCGTCCAGGAAG	0.622000														4			9		0	0	0.004482	0	0
FMN2	56776	broad.mit.edu	37	1	240370838	240370838	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:240370838C>T	uc010pye.2	+	5	2963	c.2738C>T	c.(2737-2739)cCa>cTa	p.P913L	FMN2_uc010pyd.2_Missense_Mutation_p.P909L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	909	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAAATGCTGCCACCCCCTCCC	0.657000														40			18		0	0	0.008871	0	0
NUMA1	4926	broad.mit.edu	37	11	71721864	71721864	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:71721864G>A	uc001orl.1	-	16	4859	c.4687C>T	c.(4687-4689)Caa>Taa	p.Q1563*	NUMA1_uc001orj.2_5'Flank|NUMA1_uc009ysw.1_Nonsense_Mutation_p.Q1112*|NUMA1_uc001ork.1_Nonsense_Mutation_p.Q427*|NUMA1_uc001orm.1_Nonsense_Mutation_p.Q1549*|NUMA1_uc001orn.2_Nonsense_Mutation_p.Q1126*	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	1563					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TTGCTGGCTTGGTCAGAGTCA	0.567000			T	RARA	APL									609			102		0	0	0.014410	0	0
TRPM2	7226	broad.mit.edu	37	21	45820172	45820172	+	Missense_Mutation	SNP	C	T	T	rs146409810	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr21:45820172C>T	uc010gpt.1	+	14	2339	c.2239C>T	c.(2239-2241)Ctc>Ttc	p.L747F	TRPM2_uc002zet.1_Missense_Mutation_p.L747F|TRPM2_uc002zeu.1_Missense_Mutation_p.L747F|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.L747F|TRPM2_uc002zex.1_Missense_Mutation_p.L533F|TRPM2_uc002zey.1_Missense_Mutation_p.L260F	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	747						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GTGGGGCCAGCTCTCCGTGGA	0.667000														17			24		0	0	0.007291	0	0
C2orf71	388939	broad.mit.edu	37	2	29293657	29293657	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:29293657C>T	uc002rmt.2	-	0	3471	c.3471G>A	c.(3469-3471)ggG>ggA	p.G1157G		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	1157					response to stimulus|visual perception	photoreceptor outer segment		p.L1156L(2)|p.G1157R(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTGCTGGGTTCCCGAGAGGGC	0.622000														26			18		0	0	0.006122	0	0
PRKCB	5579	broad.mit.edu	37	16	24192149	24192149	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:24192149G>A	uc002dmd.3	+	12	1630	c.1433G>A	c.(1432-1434)gGa>gAa	p.G478E	PRKCB_uc002dme.3_Missense_Mutation_p.G478E	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	478	Protein kinase.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GATTCTGAGGGACACATCAAG	0.448000														74			11		0	0	0.010729	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35919174	35919174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:35919174G>A	uc001byx.3	-	11	2155	c.1897C>T	c.(1897-1899)Ctc>Ttc	p.L633F	KIAA0319L_uc001byw.3_Missense_Mutation_p.L70F|KIAA0319L_uc010ohv.1_Missense_Mutation_p.L275F	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	633	PKD 4.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTTCCCAGAGATATGAGATA	0.428000														59			29		0	0	0.003755	0	0
SOCS4	122809	broad.mit.edu	37	14	55510448	55510448	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:55510448C>T	uc021rti.1	+	0	689	c.689C>T	c.(688-690)tCc>tTc	p.S230F	SOCS4_uc001xbo.3_Missense_Mutation_p.S230F|SOCS4_uc001xbp.3_Missense_Mutation_p.S230F	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	Homo sapiens suppressor of cytokine signaling 4 (SOCS4), transcript variant 1, mRNA.	230					intracellular signal transduction|negative regulation of signal transduction|regulation of growth			p.S230S(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						GATATGGATTCCGATGATGAA	0.393000														39			17		0	0	0.004007	0	0
CYP11B1	1584	broad.mit.edu	37	8	143956467	143956468	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:143956467_143956468CC>AT	uc010mey.3	-	9	1523_1524	c.1516_1517GG>AT	c.(1516-1518)ggc>ATc	p.G506I	CYP11B1_uc010mex.3_Missense_Mutation_p.G134I|CYP11B1_uc003yxh.3_Intron|CYP11B1_uc003yxi.3_Missense_Mutation_p.G435I|CYP11B1_uc003yxj.3_Intron	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	435					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GAAGTTCCTGCCGGAGCCCCTG	0.634000									Familial Hyperaldosteronism type I					59			67		0	0	0.004672	0	0
C10orf12	26148	broad.mit.edu	37	10	98743264	98743264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:98743264C>T	uc001kmv.3	+	0	2224	c.2117C>T	c.(2116-2118)tCg>tTg	p.S706L		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	706										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CTTGGGTTGTCGAGTAGTGGA	0.507000														42			31		0	0	0.013726	0	0
LNP1	348801	broad.mit.edu	37	3	100170717	100170717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:100170717C>T	uc003dtx.4	+	2	1591	c.311C>T	c.(310-312)tCc>tTc	p.S104F		NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	Homo sapiens leukemia NUP98 fusion partner 1 (LNP1), mRNA.	104								p.R103T(1)|p.S104S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						AAAGGAAGATCCCATTCCAAA	0.433000														54			5		0	0	0.001168	0	0
USP10	9100	broad.mit.edu	37	16	84778852	84778852	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:84778852C>T	uc010voe.2	+	4	1028	c.777C>T	c.(775-777)ttC>ttT	p.F259F	USP10_uc002fii.3_Silent_p.F255F|USP10_uc010vof.2_Intron|USP10_uc002fij.3_5'UTR	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	255					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AGTCCTGCTTCCCTGCAGAGG	0.597000														10			10		0	0	0.008291	0	0
ZNF174	7727	broad.mit.edu	37	16	3458558	3458558	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:3458558C>T	uc002cvc.3	+	2	1678	c.863C>T	c.(862-864)cCc>cTc	p.P288L		NM_003450	NP_003441	Q15697	ZN174_HUMAN	Homo sapiens zinc finger protein 174 (ZNF174), transcript variant 1, mRNA.	288					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.S287C(1)		endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						ATCAGCAGCCCCCTAAAAAGC	0.522000														50			21		0	0	0.012319	0	0
FREM2	341640	broad.mit.edu	37	13	39263887	39263887	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:39263887C>T	uc001uwv.3	+	0	2715	c.2406C>T	c.(2404-2406)ttC>ttT	p.F802F		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	802					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.Q801H(1)		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)		TGGCCCAGTTCCAGTTCCAGG	0.547000														52			26		0	0	0.005443	0	0
TAF4	6874	broad.mit.edu	37	20	60585161	60585161	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:60585161G>A	uc002ybs.3	-	3	1702	c.1702C>T	c.(1702-1704)Cag>Tag	p.Q568*		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	568					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GTCCCCGTCTGAACAGCCGTC	0.607000														43			13		0	0	0.003163	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120331436	120331436	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:120331436C>T	uc001pxl.2	+	26	2918	c.2583C>T	c.(2581-2583)atC>atT	p.I861I	ARHGEF12_uc009zat.3_Silent_p.I842I|ARHGEF12_uc010rzn.1_Silent_p.I758I|ARHGEF12_uc009zau.1_Silent_p.I758I	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	861	DH.				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)		CCTCTGTTATCGATCAGATTG	0.328000			T	MLL	AML									28			49		0	0	0.014410	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454854	84454854	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:84454854C>T	uc001vlk.3	-	0	1675	c.789G>A	c.(787-789)ttG>ttA	p.L263L		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	263	LRRCT 1.					integral to membrane		p.P262L(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CTCGGTTTTTCAAAGGACACA	0.557000														46			27		0	0	0.007291	0	0
TTN	7273	broad.mit.edu	37	2	179635288	179635288	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179635288C>T	uc021vsy.1	-	34	8456	c.8231G>A	c.(8230-8232)gGa>gAa	p.G2744E	TTN_uc021vsz.1_Missense_Mutation_p.G2698E|TTN_uc021vta.1_Missense_Mutation_p.G2698E|TTN_uc021vtb.1_Missense_Mutation_p.G2698E|TTN_uc002unb.2_Missense_Mutation_p.G2744E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2744							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)			CAGCACAACTCCATTTTTGAT	0.413000														63			18		0	0	0.010504	0	0
PGR	5241	broad.mit.edu	37	11	100999728	100999728	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:100999728G>A	uc001pgh.2	-	0	817	c.74C>T	c.(73-75)tCc>tTc	p.S25F	PGR_uc001pgi.2_Missense_Mutation_p.S25F|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript|FJ515873_uc010rum.2_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	25	Modulating, Pro-Rich.				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)	CAGCAGTGGGGATCCGACCTC	0.672000														5			14		0	0	0.001855	0	0
KLHL13	90293	broad.mit.edu	37	X	117043777	117043777	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:117043777G>A	uc011mtp.2	-	5	995	c.862C>T	c.(862-864)Cca>Tca	p.P288S	KLHL13_uc004eqk.3_Missense_Mutation_p.P234S|KLHL13_uc004eql.3_Missense_Mutation_p.P285S|KLHL13_uc011mtn.2_Missense_Mutation_p.P125S|KLHL13_uc011mto.2_Missense_Mutation_p.P279S|KLHL13_uc011mtq.2_Missense_Mutation_p.P269S|KLHL13_uc004eqm.3_Missense_Mutation_p.P243S|KLHL13_uc022cde.1_Missense_Mutation_p.P269S	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	285	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GTCATCAGTGGAAATCGTATG	0.433000														18			43		0	0	0.011902	0	0
LILRB1	10859	broad.mit.edu	37	19	55146718	55146718	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:55146718C>A	uc002qgj.3	+	12	1908	c.1568C>A	c.(1567-1569)cCa>cAa	p.P523Q	LILRB1_uc010erp.1_Missense_Mutation_p.P138Q|LILRB1_uc002qgl.3_Missense_Mutation_p.P523Q|LILRB1_uc002qgk.3_Missense_Mutation_p.P524Q|LILRB1_uc002qgm.3_Missense_Mutation_p.P524Q|LILRB1_uc010erq.3_Missense_Mutation_p.P507Q|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	523					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGGTCCAGCCCAGCTGCCGAT	0.602000										HNSCC(37;0.09)				68			38		2.37825e-27	2.65391e-27	0.010771	1	0
GRB7	2886	broad.mit.edu	37	17	37898921	37898921	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:37898921C>T	uc002hsr.3	+	2	533	c.258C>T	c.(256-258)ggC>ggT	p.G86G	GRB7_uc002hss.3_Silent_p.G86G|GRB7_uc021twu.1_Silent_p.G109G|GRB7_uc010cwc.3_Silent_p.G86G|GRB7_uc002hst.3_Silent_p.G86G	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	86					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)			TTCTCGGGGGCCCCTCCAGTG	0.652000														68			46		0	0	0.014410	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71549866	71549866	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:71549866C>T	uc004agu.3	+	12	1567	c.1262C>T	c.(1261-1263)tCa>tTa	p.S421L	PIP5K1B_uc011lrq.2_Missense_Mutation_p.S421L|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	421						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AAGGCCACTTCACAGGAGATT	0.438000														17			17		0	0	0.004990	0	0
TSIX	9383	broad.mit.edu	37	X	73045886	73045886	+	RNA	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:73045886C>T	uc004ebn.2	+	0		c.33847C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		CTCGCTTTGTCCCAGGCACAG	0.517000														23			83		0	0	0.014410	0	0
ATP13A2	23400	broad.mit.edu	37	1	17322889	17322889	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:17322889G>A	uc001baa.2	-	12	1488	c.1298C>T	c.(1297-1299)tCt>tTt	p.S433F	ATP13A2_uc001bac.2_Missense_Mutation_p.S428F|ATP13A2_uc001bab.2_Missense_Mutation_p.S428F|ATP13A2_uc009vpa.1_Intron|ATP13A2_uc001bad.1_Missense_Mutation_p.S146F	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	433					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		ACCCAGGACAGAGAGGGCAGC	0.602000														38			31		0	0	0.003271	0	0
DNASE1L2	1775	broad.mit.edu	37	16	2287545	2287545	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:2287545G>A	uc002cpo.3	+	3	880	c.486G>A	c.(484-486)caG>caA	p.Q162Q	DNASE1L2_uc002cpn.3_Silent_p.Q141Q|DNASE1L2_uc002cpp.3_Silent_p.Q162Q|DNASE1L2_uc002cpq.3_Silent_p.Q162Q	NM_001374	NP_001365	Q92874	DNSL2_HUMAN	Homo sapiens deoxyribonuclease I-like 2 (DNASE1L2), mRNA.	162					DNA catabolic process	extracellular region	DNA binding|calcium ion binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters|protein binding			endometrium(1)|prostate(1)|skin(2)	4						CAGCAGCACAGAACCTGGTGC	0.701000														4			3		0	0	0.004672	0	0
FAM55D	54827	broad.mit.edu	37	11	114450906	114450906	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:114450906C>T	uc001ppc.3	-	4	1228	c.1047G>A	c.(1045-1047)atG>atA	p.M349I	FAM55D_uc001ppd.3_Missense_Mutation_p.M65I	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	349						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		TGGAATCTCCCATTAGGTATA	0.438000														49			71		0	0	0.014410	0	0
GRM3	2913	broad.mit.edu	37	7	86415600	86415600	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:86415600C>T	uc003uid.3	+	2	1591	c.492C>T	c.(490-492)ttC>ttT	p.F164F	GRM3_uc010lef.3_Silent_p.F162F|GRM3_uc010leg.3_Silent_p.F36F|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	164					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGCGGCTCTTCCAGATCCCTC	0.527000														123			69		0	0	0.014410	0	0
PRPF8	10594	broad.mit.edu	37	17	1582092	1582092	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:1582092G>A	uc002fte.3	-	11	1797	c.1683C>T	c.(1681-1683)caC>caT	p.H561H		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	561						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GATACTGCACGTGACTATCCA	0.522000														12			20		0	0	0.003954	0	0
TMEM56	148534	broad.mit.edu	37	1	95657311	95657311	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:95657311G>A	uc021oqe.1	+	6	1055	c.679G>A	c.(679-681)Gat>Aat	p.D227N	TMEM56_uc001drd.4_Intron|AK090700_uc001dre.1_Intron|TMEM56_uc001drb.3_Missense_Mutation_p.D227N	NM_001199679	NP_001186608	Q96MV1	TMM56_HUMAN	Homo sapiens transmembrane protein 56 (TMEM56), transcript variant 1, mRNA.	227	TLC.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		TGTTGTTTTGGATGTGATGAA	0.383000														136			21		0	0	0.010504	0	0
ASPM	259266	broad.mit.edu	37	1	197098368	197098368	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:197098368G>A	uc001gtu.3	-	8	2966	c.2709C>T	c.(2707-2709)tcC>tcT	p.S903S	ASPM_uc001gtv.3_Silent_p.S903S|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	903					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CAATGAGTCTGGAAATTTTAG	0.308000														26			30		0	0	0.008361	0	0
KCNE4	23704	broad.mit.edu	37	2	223918037	223918037	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:223918037G>A	uc002vnl.4	+	1	643	c.489G>A	c.(487-489)tcG>tcA	p.S163S	KCNE4_uc021vxi.1_Silent_p.S163S	NM_080671	NP_542402	Q8WWG9	KCNE4_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 4 (KCNE4), mRNA.	163						integral to membrane	voltage-gated potassium channel activity			large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		AAGGGTCCTCGGAGAACATCC	0.607000														23			4		0	0	0.000602	0	0
CCDC7	221016	broad.mit.edu	37	10	32742280	32742280	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:32742280C>T	uc001iwj.3	+	2	858	c.288C>T	c.(286-288)tcC>tcT	p.S96S	CCDC7_uc009xlu.2_Non-coding_Transcript|CCDC7_uc001iwk.3_Silent_p.S96S|CCDC7_uc009xlv.3_Non-coding_Transcript|CCDC7_uc009xly.1_Non-coding_Transcript|CCDC7_uc009xlw.1_Non-coding_Transcript|CCDC7_uc009xlx.1_Silent_p.S96S	NM_145023	NP_659460	Q96M83	CCDC7_HUMAN	Homo sapiens coiled-coil domain containing 7 (CCDC7), transcript variant 1, mRNA.	96										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				AGGTTGTTTCCACTTTGGAAG	0.269000														43			29		0	0	0.012213	0	0
SPINK9	643394	broad.mit.edu	37	5	147716007	147716007	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:147716007G>A	uc003lpe.1	+	1	133	c.78G>A	c.(76-78)acG>acA	p.T26T	AK054753_uc003lpb.1_Intron	NM_001040433	NP_001035523	Q5DT21	ISK9_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 9 (SPINK9), mRNA.	26	Kazal-like.					extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|urinary_tract(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAACAGACGAAACAGATGG	0.299000														92			23		0	0	0.004656	0	0
ITGA4	3676	broad.mit.edu	37	2	182340013	182340013	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:182340013A>C	uc002unu.3	+	3	1317	c.554A>C	c.(553-555)cAa>cCa	p.Q185P	ITGA4_uc010zfl.1_Missense_Mutation_p.Q185P	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	185					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)	CCGTGTTATCAAGGTAAGGCA	0.353000														51			51		0	0	0.014410	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67318673	67318673	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:67318673C>T	uc010cef.3	+	12	2049	c.1750C>T	c.(1750-1752)Ccg>Tcg	p.P584S	PLEKHG4_uc002eso.4_Missense_Mutation_p.P584S|PLEKHG4_uc002esp.4_Missense_Mutation_p.P391S|PLEKHG4_uc002esq.4_Missense_Mutation_p.P584S|PLEKHG4_uc002ess.4_Missense_Mutation_p.P584S|PLEKHG4_uc010ceg.3_Missense_Mutation_p.P503S	NM_001129728	NP_056247	Q58EX7	PKHG4_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA.	584					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GCAGGAACGCCCGGGGGTTGT	0.647000														14			8		0	0	0.003080	0	0
BRAF	673	broad.mit.edu	37	7	140481411	140481411	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:140481411C>T	uc003vwc.4	-	10	1458	c.1397G>A	c.(1396-1398)gGa>gAa	p.G466E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	466	Protein kinase.		G -> A (in melanoma).|G -> E (in melanoma).|G -> V (in LNCR).		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.G466V(35)|p.G466E(12)|p.G466A(5)|p.G466R(3)|p.S465S(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)	TCCAAATGATCCAGATCCAAT	0.378000	G466V(CAL12T_LUNG)|G466V(NCIH1666_LUNG)	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					70			37		0	0	0.006230	0	0
ODZ3	55714	broad.mit.edu	37	4	183675766	183675766	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:183675766C>T	uc003ivd.1	+	20	4321	c.4246C>T	c.(4246-4248)Ctg>Ttg	p.L1416L	ODZ3_uc003ive.1_Silent_p.L829L	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1416					signal transduction	integral to membrane		p.L1416M(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CAGTGGGGTCCTGTACATTAC	0.502000														35			12		0	0	0.013537	0	0
KCNA6	3742	broad.mit.edu	37	12	4920434	4920434	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:4920434C>T	uc001qng.3	+	0	2093	c.1227C>T	c.(1225-1227)atC>atT	p.I409I	KCNA6_uc021qtr.1_Silent_p.I409I	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	409						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						TTCCCAGCATCCCGGATGCCT	0.567000										HNSCC(72;0.22)				72			51		0	0	0.014410	0	0
SLC17A2	10246	broad.mit.edu	37	6	25914867	25914867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:25914867C>T	uc011dkb.2	-	9	1326	c.1243G>A	c.(1243-1245)Gga>Aga	p.G415R	SLC17A2_uc011dkc.2_Silent_p.G365G|SLC17A2_uc003nfl.3_Silent_p.G365G			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	415					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.Q415Q(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AGCCCAAATCCCCTTGAGATT	0.433000														37			24		0	0	0.006320	0	0
VWF	7450	broad.mit.edu	37	12	6062751	6062751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:6062751C>T	uc001qnn.1	-	47	8147	c.7897G>A	c.(7897-7899)Gaa>Aaa	p.E2633K	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2633	VWFC 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TTATTTTCTTCCTTGTAACCC	0.463000														77			31		0	0	0.013726	0	0
CHRM5	1133	broad.mit.edu	37	15	34355903	34355903	+	Missense_Mutation	SNP	G	A	A	rs145125191	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:34355903G>A	uc001zhk.1	+	2	1655	c.985G>A	c.(985-987)Ggt>Agt	p.G329S	CHRM5_uc001zhl.1_Missense_Mutation_p.G329S|CHRM5_uc021sir.1_Missense_Mutation_p.G329S	NM_012125	NP_036257	P08912	ACM5_HUMAN	Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	329					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	CAAGAGTCAGGGTAAGGAAAG	0.502000														71			39		0	0	0.006999	0	0
SNTG1	54212	broad.mit.edu	37	8	51449358	51449358	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:51449358G>T	uc010lxy.1	+	11	1041	c.670G>T	c.(670-672)Gat>Tat	p.D224Y	SNTG1_uc003xqs.1_Missense_Mutation_p.D224Y|SNTG1_uc010lxz.1_Missense_Mutation_p.D224Y|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA.	224					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.D224A(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GCCCGGCACAGATTTGAGTCG	0.473000														115			59		6.00099e-30	6.70073e-30	0.014410	1	0
IKBKB	3551	broad.mit.edu	37	8	42174335	42174335	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:42174335C>T	uc003xow.2	+	10	1224	c.1038C>T	c.(1036-1038)atC>atT	p.I346I	IKBKB_uc003xov.3_Silent_p.I346I|IKBKB_uc010lxh.2_Silent_p.I241I|IKBKB_uc011lco.2_Non-coding_Transcript|IKBKB_uc003xox.2_Silent_p.I67I|IKBKB_uc010lxj.2_Silent_p.I123I|IKBKB_uc011lcp.2_Non-coding_Transcript|IKBKB_uc011lcq.2_Silent_p.I344I|IKBKB_uc010lxi.2_Non-coding_Transcript|IKBKB_uc011lcr.2_Silent_p.I287I	NM_001556	NP_001547	O14920	IKKB_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKBKB), transcript variant 1, mRNA.	346					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|IkappaB kinase activity|identical protein binding			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	ACACGGGCATCCCAGAGGAGG	0.577000														30			17		0	0	0.004007	0	0
SEZ6L	23544	broad.mit.edu	37	22	26689006	26689006	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:26689006G>A	uc003acb.3	+	1	925	c.729G>A	c.(727-729)atG>atA	p.M243I	SEZ6L_uc003acd.3_Missense_Mutation_p.M243I|SEZ6L_uc011akd.2_Missense_Mutation_p.M243I|SEZ6L_uc003ace.3_Missense_Mutation_p.M243I|SEZ6L_uc011akc.2_Missense_Mutation_p.M243I|SEZ6L_uc003acc.3_Missense_Mutation_p.M243I|SEZ6L_uc003acf.1_Missense_Mutation_p.M16I|SEZ6L_uc010gvc.1_Missense_Mutation_p.M16I	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	243						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGGCCCTGATGGACAAAGGTG	0.637000														16			10		0	0	0.008291	0	0
ZNF831	128611	broad.mit.edu	37	20	57768088	57768088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:57768088C>T	uc002yan.3	+	0	2014	c.2014C>T	c.(2014-2016)Ccc>Tcc	p.P672S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	672						intracellular	nucleic acid binding|zinc ion binding	p.V671L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGGCACAGTCCCCACCCAAGA	0.622000														21			19		0	0	0.006122	0	0
CDH23	64072	broad.mit.edu	37	10	73405631	73405631	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:73405631C>T	uc001jrx.4	+	11	1568	c.1178C>T	c.(1177-1179)tCc>tTc	p.S393F	CDH23_uc001jrw.4_Missense_Mutation_p.S393F|CDH23_uc001jry.3_Missense_Mutation_p.S393F|CDH23_uc001jrz.3_Missense_Mutation_p.S393F|CDH23_uc021psl.1_Missense_Mutation_p.S395F	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	395	Cadherin 4.				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						GGGAACAACTCCCACCACTTC	0.582000														15			18		0	0	0.010504	0	0
ZNF676	163223	broad.mit.edu	37	19	22363177	22363177	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:22363177G>A	uc002nqs.1	-	2	1660	c.1342C>T	c.(1342-1344)Ccc>Tcc	p.P448S		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CATTTGTAGGGTTTCTCTCCA	0.433000														42			30		0	0	0.009535	0	0
RNF217	154214	broad.mit.edu	37	6	125397950	125397950	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:125397950C>T	uc003pzr.3	+	3	1258	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	RNF217_uc003pzs.3_Missense_Mutation_p.R185C|RNF217_uc003pzt.3_Non-coding_Transcript			Q8TC41	RN217_HUMAN	Homo sapiens ring finger protein 217 (RNF217), mRNA.	185					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		ATGCAAATATCGCTACCTCCC	0.438000														82			30		0	0	0.008361	0	0
DYSF	8291	broad.mit.edu	37	2	71797378	71797379	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:71797378_71797379CC>TT	uc010fen.3	+	27	3140_3141	c.2999_3000CC>TT	c.(2998-3000)ccc>cTT	p.P1000L	DYSF_uc010fei.3_Missense_Mutation_p.P999L|DYSF_uc010feh.3_Missense_Mutation_p.P968L|DYSF_uc002sig.4_Missense_Mutation_p.P968L|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.P1013L|DYSF_uc010fee.3_Missense_Mutation_p.P982L|DYSF_uc010fef.3_Missense_Mutation_p.P999L|DYSF_uc002sie.3_Missense_Mutation_p.P982L|DYSF_uc010feo.3_Missense_Mutation_p.P1014L|DYSF_uc010fej.3_Missense_Mutation_p.P969L|DYSF_uc010fel.3_Missense_Mutation_p.P969L|DYSF_uc010fem.3_Missense_Mutation_p.P983L|DYSF_uc002sif.3_Missense_Mutation_p.P983L|DYSF_uc010fek.3_Missense_Mutation_p.P1000L	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	982						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AAGGTGCTTCCCAAGGATGACA	0.540000														42			25		0	0	0.004672	0	0
ATP10B	23120	broad.mit.edu	37	5	159996682	159996682	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:159996682G>A	uc003lym.1	-	24	4606	c.3759C>T	c.(3757-3759)ttC>ttT	p.F1253F	ATP10B_uc010jit.1_Silent_p.F503F	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	1253					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGACTCCGTGGAAAATGGTCT	0.468000														39			7		0	0	0.001984	0	0
RANBP2	5903	broad.mit.edu	37	2	109345596	109345596	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:109345596G>A	uc002tem.4	+	1	207	c.81G>A	c.(79-81)atG>atA	p.M27I		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	27					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGAAGTCAATGAAAGGATTCT	0.234000														37			14		0	0	0.004007	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34112119	34112119	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:34112119C>T	uc001mvh.1	+	13	1637	c.1448C>T	c.(1447-1449)tCc>tTc	p.S483F	CAPRIN1_uc001mvg.3_Missense_Mutation_p.S483F|CAPRIN1_uc001mvi.2_Missense_Mutation_p.S483F|CAPRIN1_uc001mvj.1_Missense_Mutation_p.S402F	NM_005898	NP_005889	Q14444	CAPR1_HUMAN	Homo sapiens cell cycle associated protein 1 (CAPRIN1), transcript variant 1, mRNA.	483					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	RNA binding|protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GCATCATCATCCCTTCCTGCT	0.413000														36			13		0	0	0.013537	0	0
OR6C65	403282	broad.mit.edu	37	12	55794584	55794584	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:55794584C>T	uc010spl.2	+	0	272	c.272C>T	c.(271-273)tCc>tTc	p.S91F		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S91F(2)		cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						ACAACCATTTCCTATAATGCT	0.353000														59			33		0	0	0.004289	0	0
CYP27C1	339761	broad.mit.edu	37	2	127951372	127951373	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:127951372_127951373GG>AA	uc002tod.2	-	5	921_922	c.790_791CC>TT	c.(790-792)ccg>TTg	p.P264L	CYP27C1_uc021vnn.1_Missense_Mutation_p.P264L	NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily C, polypeptide 1 (CYP27C1), mRNA.	264						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		CACGCCTTTCGGAATCAGATAC	0.589000														31			24		0	0	0.004672	0	0
MAN2B2	23324	broad.mit.edu	37	4	6590783	6590783	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:6590783C>T	uc003gjf.1	+	4	612	c.576C>T	c.(574-576)ttC>ttT	p.F192F	MAN2B2_uc003gje.1_Silent_p.F192F|MAN2B2_uc011bwf.1_Silent_p.F192F	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	192					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GGCTGCAGTTCGTGTGGCGAG	0.617000														35			13		0	0	0.002450	0	0
XIRP2	129446	broad.mit.edu	37	2	168096438	168096438	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:168096438C>T	uc002udx.3	+	5	1021	c.932C>T	c.(931-933)tCc>tTc	p.S311F	XIRP2_uc010fpn.3_Missense_Mutation_p.S344F|XIRP2_uc010fpo.3_Missense_Mutation_p.S311F|XIRP2_uc002udy.3_Missense_Mutation_p.S136F|XIRP2_uc010fpq.3_Missense_Mutation_p.S89F|XIRP2_uc010fpr.3_Missense_Mutation_p.S89F	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	136					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						CAAGAAGGGTCCAAAGTACAG	0.403000														37			10		0	0	0.008291	0	0
DDX26B	203522	broad.mit.edu	37	X	134711293	134711293	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:134711293C>T	uc004eyw.4	+	13	2312	c.1949C>T	c.(1948-1950)cCc>cTc	p.P650L	DDX26B_uc004eyx.4_Missense_Mutation_p.P251L	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	650										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AAGGGACCACCCTCAGCCTCG	0.483000														11			50		0	0	0.014410	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99129205	99129205	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:99129205C>T	uc003uqv.3	+	6	1977	c.1853C>T	c.(1852-1854)tCc>tTc	p.S618F	ZKSCAN5_uc010lfx.3_Missense_Mutation_p.S618F|ZKSCAN5_uc003uqw.3_Missense_Mutation_p.S618F|ZKSCAN5_uc003uqx.3_Missense_Mutation_p.S545F|ZKSCAN5_uc003uqy.3_Missense_Mutation_p.S354F	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	618					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGAGTGAGGTCCCACCTTGTT	0.557000														26			16		0	0	0.004990	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291347	141291347	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:141291347C>T	uc022cfj.1	-	0	427	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	MAGEC2_uc004fbu.2_Missense_Mutation_p.E143K	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	143	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GCCACCTTTTCATCTAGTGTA	0.502000										HNSCC(46;0.14)				68			40		0	0	0.007835	0	0
MORC2	22880	broad.mit.edu	37	22	31333589	31333589	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:31333589G>A	uc003aje.1	-	15	2657	c.1293C>T	c.(1291-1293)atC>atT	p.I431I		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	493							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TGGTGGTGGGGATTTCCATAG	0.552000														53			36		0	0	0.004289	0	0
ACTBL2	345651	broad.mit.edu	37	5	56778202	56778202	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:56778202C>T	uc003jrm.3	-	0	435	c.333G>A	c.(331-333)ctG>ctA	p.L111L		NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN	Homo sapiens actin, beta-like 2 (ACTBL2), mRNA.	111						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)		TCTTGGGGTTCAGGGGTGCCT	0.527000														31			12		0	0	0.010729	0	0
F2RL3	9002	broad.mit.edu	37	19	17001318	17001318	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:17001318G>A	uc002nfa.3	+	1	1219	c.1044G>A	c.(1042-1044)agG>agA	p.R348R		NM_003950	NP_003941	Q96RI0	PAR4_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 3 (F2RL3), mRNA.	348					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCGAGTTCAGGGACAAGGTGC	0.667000														18			6		0	0	0.001984	0	0
WDR72	256764	broad.mit.edu	37	15	53901721	53901721	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:53901721G>A	uc002acj.2	-	16	2983	c.2941C>T	c.(2941-2943)Cag>Tag	p.Q981*		NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	981										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGCACAGACTGGTCTCTCCAA	0.398000														26			8		0	0	0.003080	0	0
CACNA1C	775	broad.mit.edu	37	12	2705123	2705123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:2705123C>T	uc009zdu.1	+	19	3060	c.2747C>T	c.(2746-2748)tCc>tTc	p.S916F	CACNA1C_uc001qkc.2_Missense_Mutation_p.S916F|CACNA1C_uc001qjz.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkd.2_Missense_Mutation_p.S916F|CACNA1C_uc001qke.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkf.2_Missense_Mutation_p.S916F|CACNA1C_uc009zdw.1_Missense_Mutation_p.S916F|CACNA1C_uc001qkg.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkh.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkl.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkj.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkk.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkn.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkm.2_Missense_Mutation_p.S916F|CACNA1C_uc001qko.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkp.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkq.2_Missense_Mutation_p.S916F|CACNA1C_uc001qku.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkr.2_Missense_Mutation_p.S916F|CACNA1C_uc001qks.2_Missense_Mutation_p.S916F|CACNA1C_uc001qkt.2_Missense_Mutation_p.S916F|CACNA1C_uc009zdv.1_Missense_Mutation_p.S913F|CACNA1C_uc001qkb.2_Missense_Mutation_p.S916F|CACNA1C_uc001qka.1_Missense_Mutation_p.S451F|CACNA1C_uc001qki.1_Missense_Mutation_p.S652F	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	916					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	p.S915P(1)		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)	AGCAGCATTTCCCTGGCTGCT	0.582000														41			21		0	0	0.010504	0	0
OR10H3	26532	broad.mit.edu	37	19	15852646	15852646	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:15852646G>A	uc010xoq.2	+	0	444	c.444G>A	c.(442-444)tgG>tgA	p.W148*		NM_013938	NP_039226	O60404	O10H3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TTGTGGCCTGGACCTGGGCTG	0.512000														24			41		0	0	0.006230	0	0
PCDHB9	56127	broad.mit.edu	37	5	140568571	140568571	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140568571C>T	uc003liw.1	+	1	1677	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	560	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGCCCTTCGTGCTGTACC	0.716000														28			18		0	0	0.007291	0	0
CHRNA2	1135	broad.mit.edu	37	8	27319183	27319183	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:27319183C>T	uc010lur.3	-	6	2162	c.1553G>A	c.(1552-1554)gGc>gAc	p.G518D	CHRNA2_uc011lal.2_Missense_Mutation_p.G503D|CHRNA2_uc010lus.3_Missense_Mutation_p.G320D	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 2 (neuronal) (CHRNA2), mRNA.	518						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	CAGAAAGAGGCCGATGGTCCC	0.567000														75			37		0	0	0.006999	0	0
TNIK	23043	broad.mit.edu	37	3	170805181	170805181	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:170805181C>T	uc003fhh.2	-	23	3181	c.2836G>A	c.(2836-2838)Gga>Aga	p.G946R	TNIK_uc003fhi.2_Missense_Mutation_p.G891R|TNIK_uc003fhj.2_Missense_Mutation_p.G917R|TNIK_uc003fhk.2_Missense_Mutation_p.G938R|TNIK_uc003fhl.2_Missense_Mutation_p.G862R|TNIK_uc003fhm.2_Missense_Mutation_p.G883R|TNIK_uc003fhn.2_Missense_Mutation_p.G909R|TNIK_uc003fho.2_Missense_Mutation_p.G854R|TNIK_uc003fhg.2_Missense_Mutation_p.G124R	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	946	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CGCCCCAGTCCCTCAGTCGGG	0.592000														71			24		0	0	0.014323	0	0
CSMD3	114788	broad.mit.edu	37	8	113960050	113960050	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:113960050C>T	uc003ynu.3	-	8	1636	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K	CSMD3_uc003ynt.3_Missense_Mutation_p.E453K|CSMD3_uc011lhx.2_Missense_Mutation_p.E389K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	493	Sushi 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCCCATTTTCTGGTTCTCCT	0.299000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				45			18		0	0	0.012319	0	0
NOMO1	23420	broad.mit.edu	37	16	14970343	14970343	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:14970343C>T	uc002dcv.3	+	20	2550	c.2484C>T	c.(2482-2484)atC>atT	p.I828I	Mir_548_uc021tdj.1_5'Flank	NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	828						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CACCGCTGATCACAGTCTTTA	0.542000														53			52		0	0	0.014410	0	0
CYP2C19	1557	broad.mit.edu	37	10	96448013	96448013	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:96448013G>A	uc001kjv.4	+	2	789	c.463G>A	c.(463-465)Gag>Aag	p.E155K	CYP2C19_uc001kjw.4_Missense_Mutation_p.E155K|CYP2C19_uc009xus.1_Missense_Mutation_p.E20K|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.	155					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)	CCTTGTGGAGGAGTTGAGAAA	0.408000														89			23		0	0	0.003954	0	0
FSHR	2492	broad.mit.edu	37	2	49189899	49189899	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:49189899G>A	uc002rww.3	-	9	2171	c.2061C>T	c.(2059-2061)gtC>gtT	p.V687V	FSHR_uc010fbn.3_Silent_p.V661V|FSHR_uc002rwx.3_Silent_p.V625V	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	687					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GACTTAGAGGGACAAGTATGT	0.423000									Gonadal Dysgenesis, 46 XX					26			31		0	0	0.003271	0	0
KCNK13	56659	broad.mit.edu	37	14	90651002	90651002	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:90651002G>A	uc001xye.1	+	1	1324	c.882G>A	c.(880-882)atG>atA	p.M294I		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	294						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TGAGGAAAATGGACAGCGGGT	0.532000														71			35		0	0	0.013726	0	0
OR51I2	390064	broad.mit.edu	37	11	5474973	5474973	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:5474973C>T	uc010qzf.2	+	0	336	c.255C>T	c.(253-255)ttC>ttT	p.F85F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 2 (OR51I2), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCGAACCTTCTGCCTCAATG	0.488000														121			29		0	0	0.013726	0	0
LAMA2	3908	broad.mit.edu	37	6	129637235	129637235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:129637235G>A	uc021zfb.1	+	26	4082	c.3977G>A	c.(3976-3978)cGa>cAa	p.R1326Q	LAMA2_uc003qbn.3_Missense_Mutation_p.R1326Q|LAMA2_uc003qbo.3_Missense_Mutation_p.R1326Q	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1326	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.R1326Q(2)|p.R1326R(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACTGTGACCCGAGAAGACTTC	0.338000														43			36		0	0	0.004878	0	0
ACSM5	54988	broad.mit.edu	37	16	20451131	20451131	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:20451131G>A	uc002dhe.3	+	12	1693	c.1546G>A	c.(1546-1548)Gca>Aca	p.A516T		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	516					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding	p.A516A(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GGTGGTAAAGGCATTTATAGT	0.448000														83			8		0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179440123	179440123	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179440123C>T	uc021vsy.1	-	274	63257	c.63032G>A	c.(63031-63033)tGg>tAg	p.W21011*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.W14706*|TTN_uc021vta.1_Nonsense_Mutation_p.W14639*|TTN_uc021vtb.1_Nonsense_Mutation_p.W14514*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21938	Fibronectin type-III 52.						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)			GATGTGGGTCCACTGGTCAGA	0.512000														67			20		0	0	0.007413	0	0
DNAH5	1767	broad.mit.edu	37	5	13793798	13793798	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:13793798C>T	uc003jfd.2	-	48	8092	c.8050G>A	c.(8050-8052)Gga>Aga	p.G2684R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2684	AAA 3 (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)					TTATAGAATCCATTTTGTTCC	0.458000									Kartagener syndrome					82			31		0	0	0.009535	0	0
STXBP5	134957	broad.mit.edu	37	6	147694887	147694887	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:147694887C>A	uc003qlz.3	+	25	3277	c.3102C>A	c.(3100-3102)ttC>ttA	p.F1034L	STXBP5_uc010khz.2_Missense_Mutation_p.F998L|STXBP5_uc003qly.3_Missense_Mutation_p.F689L	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	1034					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GTGAACTCTTCACTCCTGTAG	0.363000														51			23		1.64293e-13	1.82543e-13	0.003330	1	0
MYOM2	9172	broad.mit.edu	37	8	2017449	2017449	+	Missense_Mutation	SNP	G	A	A	rs149104727		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:2017449G>A	uc003wpx.4	+	6	844	c.706G>A	c.(706-708)Gga>Aga	p.G236R	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	236	Ig-like C2-type 1.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CAATGCCCACGGACAAGTGTC	0.552000														35			26		0	0	0.007291	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756910	56756910	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:56756910C>T	uc010rjp.2	+	0	522	c.522C>T	c.(520-522)atC>atT	p.I174I		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I174V(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						CCAATAGCATCAATCACTTTT	0.413000														97			82		0	0	0.014410	0	0
AGXT2L1	64850	broad.mit.edu	37	4	109681429	109681429	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:109681429G>A	uc003hzc.3	-	1	271	c.90C>T	c.(88-90)ccC>ccT	p.P30P	AGXT2L1_uc010imc.3_Silent_p.P30P|AGXT2L1_uc011cfm.2_5'UTR|AGXT2L1_uc011cfn.2_Intron|AGXT2L1_uc011cfo.2_Intron	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA.	30					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	p.D29E(1)		autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		CTATTTTGATGGGATCCGATG	0.428000														64			52		0	0	0.014410	0	0
FLG	2312	broad.mit.edu	37	1	152275195	152275195	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:152275195C>T	uc001ezu.1	-	2	12203	c.12167G>A	c.(12166-12168)aGa>aAa	p.R4056K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	4056					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)			GTAATAGTATCTCTGTGACTG	0.328000									Ichthyosis					37			22		0	0	0.003330	0	0
C17orf97	400566	broad.mit.edu	37	17	263446	263446	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:263446C>T	uc021tna.1	+	1	828	c.812C>T	c.(811-813)gCc>gTc	p.A271V	C17orf97_uc010vpz.1_Non-coding_Transcript	NM_001013672	NP_001013694	Q6ZQX7	CQ097_HUMAN	Homo sapiens chromosome 17 open reading frame 97 (C17orf97), mRNA.	301	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.							p.E270K(1)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GACCCTGAGGCCCTCAAGGGT	0.687000														6			14		0	0	0.001855	0	0
CTDSP1	58190	broad.mit.edu	37	2	219266430	219266430	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:219266430C>T	uc002vhy.3	+	1	547	c.211C>T	c.(211-213)Cct>Tct	p.P71S	CTDSP1_uc021vwv.1_Missense_Mutation_p.P71S|CTDSP1_uc002vhx.3_Missense_Mutation_p.P71S|CTDSP1_uc002vhz.3_5'Flank|MIR26B_uc010zkd.2_5'Flank	NM_021198	NP_067021	Q9GZU7	CTDS1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1 (CTDSP1), transcript variant 1, mRNA.	71					protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGCGCCATCCCTAAGGTGCG	0.642000														15			5		0	0	0.001168	0	0
SEMA3F	6405	broad.mit.edu	37	3	50211350	50211351	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:50211350_50211351CC>TT	uc003cyj.3	+	2	435_436	c.237_238CC>TT	c.(235-240)tccctg>tcTTtg	p.79_80SL>SL	SEMA3F_uc003cyk.3_Silent_p.79_80SL>SL	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	79	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)		ACGTGCTGTCCCTGGACCTGCA	0.604000														40			23		0	0	0.004672	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807246	15807246	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:15807246G>A	uc002nbl.3	+	11	1440	c.1321G>A	c.(1321-1323)Gac>Aac	p.D441N		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)					GCAGGTCTACGACCCCTTCCG	0.547000														38			48		0	0	0.014410	0	0
ZNF667	63934	broad.mit.edu	37	19	56953341	56953341	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:56953341C>T	uc002qne.3	-	6	1814	c.1023G>A	c.(1021-1023)agG>agA	p.R341R	ZNF667_uc010etl.3_Silent_p.R123R|ZNF667_uc002qnd.3_Silent_p.R341R|ZNF667_uc010etm.3_Silent_p.R284R	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GGGGTGAAATCCTATTAAATA	0.393000														54			40		0	0	0.007835	0	0
DCC	1630	broad.mit.edu	37	18	50918214	50918214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:50918214C>T	uc002lfe.2	+	16	3261	c.2645C>T	c.(2644-2646)aCc>aTc	p.T882I	DCC_uc010xdr.1_Missense_Mutation_p.T710I|DCC_uc010dpf.2_Missense_Mutation_p.T517I	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	882	Fibronectin type-III 5.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CGACTTTACACCGTCCGGTGG	0.448000														40			30		0	0	0.007291	0	0
CYP4A11	1579	broad.mit.edu	37	1	47399643	47399643	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:47399643G>A	uc001cqp.4	-	8	1248	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	CYP4A11_uc001cqq.2_Silent_p.F399F|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	399					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GCCCATCAGGGAAGGTGACGG	0.577000														31			24		0	0	0.006320	0	0
FAM48A	55578	broad.mit.edu	37	13	37618230	37618230	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:37618230G>A	uc001uwk.3	-	6	629	c.381C>T	c.(379-381)ctC>ctT	p.L127L	FAM48A_uc010abt.3_Silent_p.L128L|FAM48A_uc001uwg.3_Silent_p.L127L|FAM48A_uc001uwh.3_Silent_p.L128L|FAM48A_uc001uwi.3_Silent_p.L127L|FAM48A_uc001uwj.3_Silent_p.L128L|FAM48A_uc010tes.1_Silent_p.L115L|FAM48A_uc001uwl.1_Silent_p.L127L	NM_017569	NP_060039	Q8NEM7	FA48A_HUMAN	Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 2, mRNA.	127					autophagy|gastrulation	SAGA-type complex	protein binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		ATTTTTCTAGGAGATCAACCA	0.289000														40			21		0	0	0.002780	0	0
ABCG1	9619	broad.mit.edu	37	21	43711712	43711712	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr21:43711712C>T	uc011aev.2	+	12	1742	c.1668C>T	c.(1666-1668)tcC>tcT	p.S556S	ABCG1_uc002zam.3_Silent_p.S511S|ABCG1_uc002zan.3_Silent_p.S535S|ABCG1_uc002zao.3_Silent_p.S530S|ABCG1_uc002zap.3_Silent_p.S533S|ABCG1_uc002zaq.3_Silent_p.S545S|ABCG1_uc002zar.3_Silent_p.S544S|ABCG1_uc010gpb.2_Missense_Mutation_p.P186S	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	545	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CCATGACCTCCCTGGTGGCAC	0.662000														7			18		0	0	0.004990	0	0
AFM	173	broad.mit.edu	37	4	74357600	74357600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:74357600G>A	uc003hhb.3	+	7	886	c.855G>A	c.(853-855)atG>atA	p.M285I		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	285	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCAAGGTTATGAACCATATTT	0.373000														66			27		0	0	0.010818	0	0
MMRN1	22915	broad.mit.edu	37	4	90816609	90816609	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:90816609G>A	uc003hst.3	+	0	558	c.487G>A	c.(487-489)Gga>Aga	p.G163R	MMRN1_uc010iku.3_Missense_Mutation_p.G129R	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	163					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		tggaggcactggaggcattgg	0.502000														46			22		0	0	0.014323	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65288687	65288687	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:65288687C>T	uc003juk.2	+	2	451	c.141C>T	c.(139-141)acC>acT	p.T47T	ERBB2IP_uc011cqx.2_Silent_p.T47T|ERBB2IP_uc003jui.2_Silent_p.T47T|ERBB2IP_uc003jul.2_Silent_p.T47T|ERBB2IP_uc011cqy.2_Silent_p.T47T|ERBB2IP_uc003juj.2_Silent_p.T47T|ERBB2IP_uc011cqz.2_Silent_p.T47T|ERBB2IP_uc010iwx.2_Silent_p.T47T	NM_001253697	NP_001240626	Q96RT1	LAP2_HUMAN	Homo sapiens erbb2 interacting protein (ERBB2IP), transcript variant 1, mRNA.	47					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TTGAAAAAACCTTGGAGGAAC	0.353000														33			14		0	0	0.002450	0	0
FAM98C	147965	broad.mit.edu	37	19	38893811	38893812	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:38893811_38893812GG>AA	uc002oin.1	+	0	37_38	c.18_19GG>AA	c.(16-21)gcggaa>gcAAaa	p.E7K	FAM98C_uc002oio.1_Missense_Mutation_p.E7K|FAM98C_uc010xtz.1_Missense_Mutation_p.E7K	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	Homo sapiens family with sequence similarity 98, member C (FAM98C), mRNA.	7										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGGTGAAGGCGGAAGCGTGGGA	0.728000														20			10		0	0	0.004672	0	0
C14orf37	145407	broad.mit.edu	37	14	58471804	58471804	+	Missense_Mutation	SNP	G	A	A	rs146935912	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:58471804G>A	uc010tro.2	-	7	2530	c.2332C>T	c.(2332-2334)Cgc>Tgc	p.R778C	C14orf37_uc001xdc.3_Missense_Mutation_p.R740C|C14orf37_uc001xdd.3_Missense_Mutation_p.R740C	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	740						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CTCCTTCGGCGATTCATAACC	0.443000														73			40		0	0	0.008740	0	0
LRIF1	55791	broad.mit.edu	37	1	111492641	111492641	+	Silent	SNP	A	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:111492641A>G	uc001eaa.3	-	2	1957	c.1701T>C	c.(1699-1701)gaT>gaC	p.D567D	LRIF1_uc001dzz.3_Silent_p.D31D|LRIF1_uc001eab.3_Silent_p.D31D	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	Homo sapiens ligand dependent nuclear receptor interacting factor 1 (LRIF1), transcript variant 1, mRNA.	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TAAATTCAGCATCACTCTTCA	0.378000														16			22		0	0	0.014323	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623790	21623790	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:21623790G>A	uc010tlp.2	-	0	395	c.395C>T	c.(394-396)aCc>aTc	p.T132I		NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA.	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		GTTCACCAGGGTCTGGGGCAC	0.517000														62			27		0	0	0.006320	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762289	24762289	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:24762289C>T	uc001iru.4	+	5	1382	c.979C>T	c.(979-981)Ccg>Tcg	p.P327S	KIAA1217_uc001irs.3_Missense_Mutation_p.P247S|KIAA1217_uc001irt.4_Missense_Mutation_p.P327S|KIAA1217_uc010qcy.2_Missense_Mutation_p.P327S|KIAA1217_uc010qcz.2_Missense_Mutation_p.P327S|KIAA1217_uc001irv.1_Missense_Mutation_p.P177S|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.P45S|KIAA1217_uc001irz.3_Missense_Mutation_p.P45S|KIAA1217_uc001irx.3_Missense_Mutation_p.P45S|KIAA1217_uc001iry.3_Missense_Mutation_p.P45S	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	327	Pro-rich.				embryonic skeletal system development	cytoplasm		p.P327T(2)		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						GCCCCCCTCCCCGTCCAGAAT	0.622000														44			11		0	0	0.010729	0	0
DBH	1621	broad.mit.edu	37	9	136501715	136501715	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:136501715C>T	uc004cel.3	+	0	231	c.222C>T	c.(220-222)ttC>ttT	p.F74F		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	74	DOMON.				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	L-ascorbic acid binding|dopamine beta-monooxygenase activity			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CCATCCATTTCCAGCTCCTGG	0.637000														11			17		0	0	0.004007	0	0
CBLB	868	broad.mit.edu	37	3	105397331	105397331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:105397331G>A	uc003dwc.3	-	16	2835	c.2513C>T	c.(2512-2514)cCt>cTt	p.P838L	CBLB_uc003dwa.3_Missense_Mutation_p.P53L|CBLB_uc011bhi.2_Missense_Mutation_p.P816L	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	838	Pro-rich.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GGAGCCAGGAGGTTTTGAATG	0.468000			Mis S		AML									20			26		0	0	0.006320	0	0
GPC5	2262	broad.mit.edu	37	13	92345655	92345655	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:92345655C>T	uc010tif.2	+	2	906	c.540C>T	c.(538-540)aaC>aaT	p.N180N		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	180						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)				ACCTCATTAACCCTGGTGTGA	0.443000														66			33		0	0	0.003755	0	0
RPTOR	57521	broad.mit.edu	37	17	78897336	78897336	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:78897336G>A	uc002jyt.1	+	22	3476	c.2671G>A	c.(2671-2673)Gat>Aat	p.D891N	RPTOR_uc010wug.1_Missense_Mutation_p.D733N	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	891					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CCTGACCAACGATGTGGCCAA	0.652000														29			19		0	0	0.010504	0	0
IL1RL2	8808	broad.mit.edu	37	2	102804359	102804359	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:102804359T>C	uc002tbs.3	+	1	158	c.32T>C	c.(31-33)aTc>aCc	p.I11T	IL1RL2_uc002tbt.3_Missense_Mutation_p.S38P	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	11					cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GGGTTGTCCATCGCCCTTCCA	0.657000														38			28		0	0	0.005443	0	0
NOVA1	4857	broad.mit.edu	37	14	26917425	26917426	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:26917425_26917426CC>TT	uc001wqa.3	-	5	1683_1684	c.897_898GG>AA	c.(895-900)aaggat>aaAAat	p.D300N	NOVA1_uc001wpy.3_Missense_Mutation_p.D422N|NOVA1_uc001wpz.3_Missense_Mutation_p.D398N	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	425	Ala-rich.				RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TCAACTACATCCTTGGATCCAT	0.465000														46			19		0	0	0.004672	0	0
DNAH8	1769	broad.mit.edu	37	6	38843583	38843583	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:38843583G>A	uc021yzh.1	+	52	7946	c.7837G>A	c.(7837-7839)Gag>Aag	p.E2613K	DNAH8_uc003ooe.2_Missense_Mutation_p.E2396K	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						AACCATGTATGAGTTTTATGT	0.343000														18			13		0	0	0.002450	0	0
OTOGL	283310	broad.mit.edu	37	12	80647276	80647276	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:80647276C>T	uc001szd.3	+	12	1295	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ACTTGCATCTCCTTGGAAAAT	0.343000														57			32		0	0	0.006999	0	0
MAP7D3	79649	broad.mit.edu	37	X	135302927	135302927	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:135302927G>A	uc004ezt.3	-	15	2704	c.2483C>T	c.(2482-2484)tCa>tTa	p.S828L	MAP7D3_uc004ezs.3_Missense_Mutation_p.S793L|MAP7D3_uc011mwc.2_Missense_Mutation_p.S810L|MAP7D3_uc010nsa.2_Missense_Mutation_p.S786L	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	828						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					GACTCACCTTGAAACTACTTC	0.353000														27			81		0	0	0.014410	0	0
RNF135	84282	broad.mit.edu	37	17	29325795	29325795	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:29325795G>A	uc002hfz.3	+	4	1021	c.885G>A	c.(883-885)gaG>gaA	p.E295E	RNF135_uc010csm.3_3'UTR|RNF135_uc002hga.3_3'UTR|RNF135_uc002hgb.3_3'UTR	NM_032322	NP_115698	Q8IUD6	RN135_HUMAN	Homo sapiens ring finger protein 135 (RNF135), transcript variant 1, mRNA.	295	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				GGAGCTGTGAGAGGTTTTCTA	0.542000														18			29		0	0	0.009535	0	0
ARMC1	55156	broad.mit.edu	37	8	66516710	66516710	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:66516710G>A	uc003xvl.3	-	6	1023	c.768C>T	c.(766-768)tcC>tcT	p.S256S	ARMC1_uc011leo.2_Silent_p.S154S	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	Homo sapiens armadillo repeat containing 1 (ARMC1), mRNA.	256					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			AGCCGACCCGGGACACCGCTT	0.498000														55			27		0	0	0.006320	0	0
SIM1	6492	broad.mit.edu	37	6	100896525	100896525	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:100896525G>A	uc003pqj.4	-	5	1040	c.573C>T	c.(571-573)atC>atT	p.I191I	SIM1_uc021zdg.1_Silent_p.I191I|SIM1_uc010kcu.3_Silent_p.I191I	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	191					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGTACTGGCGGATCTTCAAGT	0.627000														23			14		0	0	0.004007	0	0
ITK	3702	broad.mit.edu	37	5	156636002	156636002	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:156636002C>T	uc003lwo.1	+	1	323	c.241C>T	c.(241-243)Cag>Tag	p.Q81*		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	81	PH.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATACCCGTTTCAGGTAAGTCC	0.493000			T	SYK	peripheral T-cell lymphoma									97			85		0	0	0.014410	0	0
ZNF735	730291	broad.mit.edu	37	7	63680295	63680295	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:63680295G>A	uc011kdn.2	+	3	866	c.866G>A	c.(865-867)aGa>aAa	p.R289K		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AACCACAAGAGAATTCATACT	0.443000														29			10		0	0	0.006214	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64483855	64483855	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:64483855C>T	uc003jtp.3	-	21	3712	c.2898G>A	c.(2896-2898)ttG>ttA	p.L966L	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	966	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CAGACCAGTCCAAAGCCACCC	0.453000														69			63		0	0	0.014410	0	0
ZNF483	158399	broad.mit.edu	37	9	114304716	114304716	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:114304716G>A	uc004bff.2	+	5	1725	c.1501G>A	c.(1501-1503)Ggg>Agg	p.G501R	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	501					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						TGATGACTGTGGGAAAGGTTT	0.388000														10			19		0	0	0.006122	0	0
WDHD1	11169	broad.mit.edu	37	14	55453880	55453880	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:55453880G>A	uc001xbm.2	-	13	1842	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	WDHD1_uc010aom.2_Silent_p.F101F|WDHD1_uc001xbn.2_Silent_p.F461F	NM_007086	NP_009017	O75717	WDHD1_HUMAN	Homo sapiens WD repeat and HMG-box DNA binding protein 1 (WDHD1), transcript variant 1, mRNA.	584						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						GATAAACAATGAAAAGCTGTT	0.378000														33			17		0	0	0.004007	0	0
PLIN4	729359	broad.mit.edu	37	19	4512668	4512668	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:4512668G>A	uc002mar.1	-	2	1262	c.1262C>T	c.(1261-1263)aCc>aTc	p.T421I	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	421	27 X 33 AA approximate tandem repeat.		T -> A (in dbSNP:rs55901236).			lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						ACTGCAGACGGTGTCCTTTGT	0.552000														66			45		0	0	0.014410	0	0
MYH1	4619	broad.mit.edu	37	17	10399338	10399338	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:10399338C>T	uc002gmo.3	-	34	5192	c.5098G>A	c.(5098-5100)Gag>Aag	p.E1700K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1700						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						CTGCTCCTCTCTGTCTGTTCC	0.557000														20			23		0	0	0.003330	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764324	77764324	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:77764324C>T	uc003yau.2	+	9	5554	c.5167C>T	c.(5167-5169)Cct>Tct	p.P1723S	ZFHX4_uc003yaw.1_Missense_Mutation_p.P1678S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1678	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1723T(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCTCATTTTCCTATGACCCC	0.473000										HNSCC(33;0.089)				59			23		0	0	0.002780	0	0
LRAT	9227	broad.mit.edu	37	4	155665582	155665582	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:155665582G>A	uc003iom.1	+	0	431	c.104G>A	c.(103-105)gGg>gAg	p.G35E	DQ266889_uc003iol.3_Intron|LRAT_uc003ion.1_Missense_Mutation_p.G35E	NM_004744	NP_004735	O95237	LRAT_HUMAN	Homo sapiens lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) (LRAT), mRNA.	35					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	GAAGACAAAGGGAGGAACAGT	0.557000														43			25		0	0	0.002780	0	0
MAPT	4137	broad.mit.edu	37	17	44061192	44061192	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:44061192C>T	uc002ijr.4	+	5	1344	c.1022C>T	c.(1021-1023)tCt>tTt	p.S341F	MAPT_uc010dau.3_Missense_Mutation_p.S341F|MAPT_uc002ijs.4_Intron|MAPT_uc002ijx.4_Intron|MAPT_uc021tyv.1_Intron|MAPT_uc002ijt.4_Intron|MAPT_uc021tyw.1_Intron|MAPT_uc002iju.4_Intron|MAPT_uc021tyx.1_Missense_Mutation_p.S189F	NM_016835	NP_058519	P10636	TAU_HUMAN	Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA.	341					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CGGGGCCCCTCTTTGGGAGAG	0.652000														61			34		0	0	0.003271	0	0
SLC26A7	115111	broad.mit.edu	37	8	92378858	92378858	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:92378858C>T	uc003yez.3	+	13	1778	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	SLC26A7_uc003yex.3_Silent_p.F513F|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Silent_p.F513F	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	513	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	p.F513F(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CGCTTGTTTTCCTGAATGCAA	0.353000														55			19		0	0	0.007413	0	0
BLID	414899	broad.mit.edu	37	11	121986447	121986447	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:121986447C>T	uc001pyf.3	-	0	477	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	AK123947_uc009zba.2_Intron	NM_001001786	NP_001001786	Q8IZY5	BLID_HUMAN	Homo sapiens BH3-like motif containing, cell death inducer (BLID), nuclear gene encoding mitochondrial protein, mRNA.	62					apoptosis	mitochondrion				NS(1)|large_intestine(4)|lung(6)|pancreas(1)	12		Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101)		AGCACTGTTTCCTTAGGCAAC	0.488000											OREG0021435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			56		0	0	0.014410	0	0
LOC729862	729862	broad.mit.edu	37	5	28927204	28927204	+	RNA	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:28927204G>A	uc003jgz.1	+	0		c.228G>A								Homo sapiens striatin, calmodulin binding protein pseudogene (LOC729862), non-coding RNA.																		TCGTGAGGATGATCAGAATGT	0.448000														27			16		0	0	0.003163	0	0
UGT1A1	54658	broad.mit.edu	37	2	234545462	234545462	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:234545462G>A	uc002vur.3	+	0	340	c.294G>A	c.(292-294)tgG>tgA	p.W98*	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Nonsense_Mutation_p.W98*	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	105					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)	ATGCTCAATGGAAAGCACAGG	0.398000														83			20		0	0	0.007413	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515792	47515792	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:47515792C>T	uc001cqt.3	+	11	1726	c.1476C>T	c.(1474-1476)atC>atT	p.I492I	CYP4X1_uc001cqr.3_Silent_p.I491I|CYP4X1_uc001cqs.3_Silent_p.I427I	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	492						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						ACCATTTTATCCTCAAGCCCA	0.418000														55			48		0	0	0.014410	0	0
BACH1	571	broad.mit.edu	37	21	30698862	30698863	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr21:30698862_30698863CC>TT	uc002ynk.3	+	2	960_961	c.717_718CC>TT	c.(715-720)gtccgt>gtTTgt	p.R240C	BACH1_uc002ynj.3_Missense_Mutation_p.R240C|BACH1_uc002ynl.2_Non-coding_Transcript	NM_206866	NP_996749	O14867	BACH1_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1), transcript variant 1, mRNA.	240						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						CTGACAGAGTCCGTACTGGGGA	0.446000														21			30		0	0	0.004672	0	0
IL16	3603	broad.mit.edu	37	15	81578072	81578073	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:81578072_81578073CC>TT	uc021ssh.1	+	8	1334_1335	c.1233_1234CC>TT	c.(1231-1236)tcccct>tcTTct	p.P412S	IL16_uc002bgc.2_Non-coding_Transcript|IL16_uc010blq.1_Missense_Mutation_p.P412S|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Missense_Mutation_p.P454S|IL16_uc021ssg.1_Missense_Mutation_p.P412S|IL16_uc002bgg.3_Missense_Mutation_p.P412S|IL16_uc002bgi.1_5'UTR	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	412	Interaction with GRIN2A.|PDZ 2.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCAGTGATTCCCCTGTGCACTG	0.505000														55			36		0	0	0.004672	0	0
GRIA2	2891	broad.mit.edu	37	4	158281129	158281129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:158281129G>A	uc003ipm.4	+	12	2584	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K	GRIA2_uc011cit.2_Missense_Mutation_p.E662K|GRIA2_uc003ipl.4_Missense_Mutation_p.E709K|GRIA2_uc003ipk.4_Missense_Mutation_p.E662K|GRIA2_uc010iqh.1_Non-coding_Transcript|GRIA2_uc011ciu.1_Missense_Mutation_p.E19K|GRIA2_uc011civ.1_Non-coding_Transcript|GRIA2_uc011ciw.1_Non-coding_Transcript|GRIA2_uc011cix.1_Missense_Mutation_p.E19K|GRIA2_uc011ciy.1_Missense_Mutation_p.E19K|GRIA2_uc011ciz.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	709					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.A708A(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GACTACGGCCGAAGGGGTGGC	0.498000														45			17		0	0	0.008871	0	0
ESPNP	284729	broad.mit.edu	37	1	17023276	17023276	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:17023276G>A	uc001azn.1	-	8	1672	c.1558C>T	c.(1558-1560)Cag>Tag	p.Q520*						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		CCGCCTACCTGGAAGGCCGGC	0.677000														61			5		0	0	0.001168	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069569	114069569	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:114069569G>A	uc003ebi.3	-	3	1536	c.1356C>T	c.(1354-1356)tcC>tcT	p.S452S	ZBTB20_uc003ebj.3_Silent_p.S379S|ZBTB20_uc010hqp.3_Silent_p.S379S|ZBTB20_uc003ebk.3_Silent_p.S379S|ZBTB20_uc003ebl.3_Silent_p.S379S|ZBTB20_uc003ebm.3_Silent_p.S379S|ZBTB20_uc003ebn.3_Silent_p.S379S|ZBTB20-AS1_uc003ebo.2_5'Flank	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CGCTCTTGTCGGAGCTGTTGC	0.542000														46			4		0	0	0.000602	0	0
RFPL1	5988	broad.mit.edu	37	22	29834853	29834853	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:29834853C>T	uc003afn.3	+	0	282	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S	RFPL1-AS1_uc003afm.2_Non-coding_Transcript	NM_021026	NP_066306	O75677	RFPL1_HUMAN	Homo sapiens ret finger protein-like 1 (RFPL1), mRNA.	25							zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						GTGCACTTTTCCCCTGGCAGT	0.488000														68			34		0	0	0.004289	0	0
OR56A4	120793	broad.mit.edu	37	11	6023726	6023726	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:6023726G>A	uc010qzv.2	-	0	653	c.653C>T	c.(652-654)tCt>tTt	p.S218F		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCCTGGCAGAAAGCATGGG	0.463000														17			18		0	0	0.007413	0	0
KALRN	8997	broad.mit.edu	37	3	124209691	124209691	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:124209691C>T	uc003ehg.3	+	29	4668	c.4541C>T	c.(4540-4542)tCt>tTt	p.S1514F	KALRN_uc010hrv.1_Missense_Mutation_p.S1505F|KALRN_uc003ehf.1_Missense_Mutation_p.S1514F|KALRN_uc011bjy.1_Missense_Mutation_p.S1505F	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1514	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATCAAAGATTCTTCAGGACAC	0.502000														34			28		0	0	0.006320	0	0
SLIT1	6585	broad.mit.edu	37	10	98807584	98807584	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:98807584C>T	uc001kmw.2	-	15	1749	c.1497G>A	c.(1495-1497)gaG>gaA	p.E499E	SLIT1_uc009xvh.1_Silent_p.E509E	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	499					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCTGGTAATCCTCCGTGCCTG	0.652000														21			12		0	0	0.010729	0	0
GGT5	2687	broad.mit.edu	37	22	24622120	24622120	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:24622120C>T	uc002zzp.4	-	7	1570	c.1153G>A	c.(1153-1155)Ggg>Agg	p.G385R	GGT5_uc002zzo.4_Missense_Mutation_p.G385R|GGT5_uc002zzr.4_Missense_Mutation_p.G353R|GGT5_uc002zzq.4_Missense_Mutation_p.G353R|GGT5_uc011ajm.2_Missense_Mutation_p.G308R|GGT5_uc011ajn.1_Non-coding_Transcript	NM_001099781	NP_001093251	P36269	GGT5_HUMAN	Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA.	385					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GTGCCTGTCCCGTGGCCCCAG	0.692000														19			9		0	0	0.010729	0	0
TCEA2	6919	broad.mit.edu	37	20	62698282	62698282	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:62698282G>A	uc021wgq.1	+	2	806	c.150G>A	c.(148-150)ggG>ggA	p.G50G	TCEA2_uc021wgo.1_Non-coding_Transcript|TCEA2_uc021wgp.1_Silent_p.G23G|TCEA2_uc010gku.2_Silent_p.G23G	NM_003195	NP_942016	Q15560	TCEA2_HUMAN	Homo sapiens transcription elongation factor A (SII), 2 (TCEA2), transcript variant 1, mRNA.	50	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding	p.G50G(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CCCGAGTCGGGATGTCTGTCA	0.622000														14			7		0	0	0.003080	0	0
IL17RC	84818	broad.mit.edu	37	3	9962642	9962642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:9962642C>T	uc003bua.3	+	6	1042	c.824C>T	c.(823-825)cCg>cTg	p.P275L	CIDEC_uc003bto.3_Intron|IL17RC_uc010hcr.3_Intron|IL17RC_uc011ato.2_Intron|IL17RC_uc010hcs.3_Missense_Mutation_p.P179L|IL17RC_uc003btz.3_Missense_Mutation_p.P204L|IL17RC_uc011atp.2_Intron|IL17RC_uc003bud.3_Intron|IL17RC_uc010hct.3_Missense_Mutation_p.P204L|IL17RC_uc010hcu.3_Missense_Mutation_p.P204L|IL17RC_uc003bub.3_Intron|IL17RC_uc010hcv.3_Intron|IL17RC_uc003buc.3_5'UTR|IL17RC_uc011atq.2_Intron	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA.	275						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						AACAGCATCCCGAGCTGCTGG	0.607000														38			16		0	0	0.014323	0	0
LOC440040	440040	broad.mit.edu	37	11	49598204	49598204	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:49598204C>T	uc010rhy.2	+	1	795	c.317C>T	c.(316-318)tCc>tTc	p.S106F	LOC440040_uc009ymb.3_Missense_Mutation_p.S106F					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		TCCTCCTCTTCCTTCTGCTCC	0.512000														14			11		0	0	0.001855	0	0
NLRP5	126206	broad.mit.edu	37	19	56539295	56539295	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:56539295C>T	uc002qmj.3	+	6	1696	c.1696C>T	c.(1696-1698)Cac>Tac	p.H566Y	NLRP5_uc002qmi.3_Missense_Mutation_p.H547Y	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	566	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)		TGCTCTGTTTCACATGAACAT	0.532000														28			8		0	0	0.004482	0	0
FRAS1	80144	broad.mit.edu	37	4	79366681	79366681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:79366681C>T	uc003hlb.2	+	41	6111	c.5671C>T	c.(5671-5673)Cgt>Tgt	p.R1891C	FRAS1_uc003hkw.3_Missense_Mutation_p.R1891C|FRAS1_uc010ijj.2_Missense_Mutation_p.R311C	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1890					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						TGCAGGTGATCGTTTTGGCCC	0.393000														43			18		0	0	0.004990	0	0
CCAR1	55749	broad.mit.edu	37	10	70515274	70515274	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:70515274C>T	uc001joo.3	+	12	1725	c.1606C>T	c.(1606-1608)Cta>Tta	p.L536L	CCAR1_uc001jol.1_Non-coding_Transcript|CCAR1_uc001jom.1_Silent_p.L341L|CCAR1_uc009xpx.1_Silent_p.L510L|CCAR1_uc001jon.1_Silent_p.L482L|CCAR1_uc010qiz.1_Silent_p.L521L|CCAR1_uc010qja.1_Silent_p.L521L|CCAR1_uc010qjb.2_Non-coding_Transcript	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.	536					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AGGCATTGATCTAAGTGTGTG	0.413000														73			39		0	0	0.013114	0	0
EPB49	2039	broad.mit.edu	37	8	21937924	21937924	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:21937924T>C	uc022asw.1	+	11	939	c.901_splice	c.e11-1	p.L301_splice	EPB49_uc022asq.1_Splice_Site_p.L301_splice|EPB49_uc011kys.1_Splice_Site_p.L261_splice|EPB49_uc022asr.1_Splice_Site_p.L301_splice|EPB49_uc022ass.1_Splice_Site_p.L276_splice|EPB49_uc022ast.1_Splice_Site_p.L301_splice|EPB49_uc022asu.1_Splice_Site_p.L301_splice|EPB49_uc022asv.1_Splice_Site_p.L301_splice|EPB49_uc022asx.1_Splice_Site_p.L301_splice|EPB49_uc022asy.1_Splice_Site_p.L276_splice	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	301	Interaction with RASGRF2.				actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		CCTTTCTAGCTACAGTCCACA	0.597000														76			31		0	0	0.005524	0	0
EML1	2009	broad.mit.edu	37	14	100331891	100331891	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:100331891C>T	uc001ygr.3	+	2	360	c.291C>T	c.(289-291)gtC>gtT	p.V97V	EML1_uc010avt.1_Silent_p.V84V|EML1_uc010tww.2_Silent_p.V66V|EML1_uc001ygq.3_Silent_p.V97V|EML1_uc001ygs.3_Silent_p.V97V	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	97						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	p.T96M(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GAACCACGGTCAACAATGGCA	0.468000														33			18		0	0	0.008871	0	0
COL4A4	1286	broad.mit.edu	37	2	227886775	227886775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:227886775G>A	uc021vxr.1	-	42	4306	c.4205C>T	c.(4204-4206)cCc>cTc	p.P1402L	COL4A4_uc021vxs.1_Missense_Mutation_p.P1399L	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1402	Triple-helical region.		P -> S.		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)		TGGTCCTGAGGGGCCTCTCAT	0.488000														97			69		0	0	0.014410	0	0
PATL1	219988	broad.mit.edu	37	11	59423511	59423511	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:59423511G>A	uc001noe.4	-	6	874	c.731C>T	c.(730-732)tCc>tTc	p.S244F	PATL1_uc009yms.1_Intron|PATL1_uc010rkw.2_Intron	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	Homo sapiens protein associated with topoisomerase II homolog 1 (yeast) (PATL1), mRNA.	244	Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	RNA binding|protein binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						ACCCAGGAGGGAAGAGTTCTA	0.428000														12			4		0	0	0.000602	0	0
CALD1	800	broad.mit.edu	37	7	134632263	134632263	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:134632263C>T	uc003vrz.3	+	7	2003	c.1537C>T	c.(1537-1539)Cct>Tct	p.P513S	CALD1_uc003vry.3_Missense_Mutation_p.P258S|CALD1_uc003vsb.3_Missense_Mutation_p.P258S|CALD1_uc011kpt.2_Missense_Mutation_p.P32S|CALD1_uc010lmm.3_Missense_Mutation_p.P284S|CALD1_uc003vsc.3_Missense_Mutation_p.P278S|CALD1_uc003vsd.3_Missense_Mutation_p.P252S|CALD1_uc011kpu.2_Missense_Mutation_p.P263S|CALD1_uc011kpv.2_Missense_Mutation_p.P122S|CALD1_uc003vse.3_Missense_Mutation_p.P377S	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	513					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	p.R512H(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						CCACAGCCGCCCTGGAGGGAG	0.657000														5			5		0	0	0.001168	0	0
HDAC4	9759	broad.mit.edu	37	2	240085518	240085518	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:240085518C>T	uc002vyk.4	-	5	1384	c.592G>A	c.(592-594)Gac>Aac	p.D198N	HDAC4_uc010fyz.1_Missense_Mutation_p.D193N|HDAC4_uc010zoa.1_Missense_Mutation_p.D193N|HDAC4_uc010fza.2_Missense_Mutation_p.D198N|HDAC4_uc010fyy.3_Missense_Mutation_p.D150N|HDAC4_uc010znz.1_Missense_Mutation_p.D81N	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	198	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding	p.S197S(1)|p.S197N(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TAGCGAGGGTCGCTGGAAATG	0.562000														67			22		0	0	0.003330	0	0
BAI1	575	broad.mit.edu	37	8	143562968	143562968	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:143562968G>A	uc003ywm.3	+	9	2209	c.2026G>A	c.(2026-2028)Ggg>Agg	p.G676R		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	676					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTCTCAGGACGGGACCAGCTA	0.627000														10			6		0	0	0.001984	0	0
AANAT	15	broad.mit.edu	37	17	74464865	74464865	+	Missense_Mutation	SNP	G	A	A	rs139841386	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:74464865G>A	uc021udg.1	+	4	1179	c.172G>A	c.(172-174)Gcc>Acc	p.A58T	AANAT_uc002jro.3_Missense_Mutation_p.A13T|AANAT_uc010wte.2_Non-coding_Transcript	NM_001166579	NP_001079	Q16613	SNAT_HUMAN	Homo sapiens aralkylamine N-acetyltransferase (AANAT), transcript variant 1, mRNA.	13	N-acetyltransferase.				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity			lung(1)	1						GAAACCTGAGGCCCCACGTCT	0.662000														11			11		0	0	0.001855	0	0
OR6N2	81442	broad.mit.edu	37	1	158747040	158747040	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:158747040G>A	uc010pir.2	-	0	386	c.386C>T	c.(385-387)cCc>cTc	p.P129L		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GTAGTGGAGGGGCCGACAAAT	0.512000														51			29		0	0	0.009535	0	0
MMRN1	22915	broad.mit.edu	37	4	90857605	90857605	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:90857605A>C	uc003hst.3	+	5	2845	c.2774A>C	c.(2773-2775)cAc>cCc	p.H925P	MMRN1_uc010iku.3_Intron|MMRN1_uc011cds.2_Missense_Mutation_p.H667P	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	925					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AAAACTCTCCACGAAGTTTTA	0.373000														31			15		0	0	0.003163	0	0
LMAN2	10960	broad.mit.edu	37	5	176764494	176764494	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:176764494T>G	uc003mge.3	-	4	782	c.545A>C	c.(544-546)aAc>aCc	p.N182T		NM_006816	NP_006807	Q12907	LMAN2_HUMAN	Homo sapiens lectin, mannose-binding 2 (LMAN2), mRNA.	182	L-type lectin-like.				protein transport	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			GGAGCCATTGTTCACCATCAC	0.642000														31			5		0	0	0.000602	0	0
ANKRD35	148741	broad.mit.edu	37	1	145555774	145555775	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:145555774_145555775CC>TT	uc001eob.1	+	1	230_231	c.122_123CC>TT	c.(121-123)tcc>tTT	p.S41F	ANKRD35_uc010oyx.1_5'UTR	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	41										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCCCTGGCCTCCAGGAAATCTG	0.624000														32			12		0	0	0.004672	0	0
DOC2A	8448	broad.mit.edu	37	16	30020353	30020353	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:30020353C>T	uc002dvn.3	-	4	682	c.491G>A	c.(490-492)gGg>gAg	p.G164E	BOLA2_uc010bzb.1_Intron|DOC2A_uc010vef.2_Non-coding_Transcript|DOC2A_uc002dvo.3_Missense_Mutation_p.G164E|DOC2A_uc002dvp.3_Missense_Mutation_p.G164E|DOC2A_uc002dvq.3_Missense_Mutation_p.G164E	NM_003586	NP_003577	Q14183	DOC2A_HUMAN	Homo sapiens double C2-like domains, alpha (DOC2A), mRNA.	164	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						ATCTGTGATCCCGCTGTAAGT	0.557000														51			15		0	0	0.006122	0	0
DNASE1L1	1774	broad.mit.edu	37	X	153633216	153633216	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:153633216G>A	uc004fks.1	-	3	455	c.264C>T	c.(262-264)ccC>ccT	p.P88P	DNASE1L1_uc004fkt.1_Silent_p.P88P|DNASE1L1_uc004fku.1_Silent_p.P88P|DNASE1L1_uc004fkv.1_Silent_p.P88P|DNASE1L1_uc004fkw.1_Silent_p.P88P	NM_006730	NP_006721	P49184	DNSL1_HUMAN	Homo sapiens deoxyribonuclease I-like 1 (DNASE1L1), transcript variant 1, mRNA.	88					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCCAGCTGGGGGCTGCTCA	0.627000														5			16		0	0	0.004990	0	0
ALG1L	200810	broad.mit.edu	37	3	125648252	125648252	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:125648252C>T	uc021xdh.1	-	6	787	c.567G>A	c.(565-567)cgG>cgA	p.R189R	LOC100125556_uc003eid.4_Non-coding_Transcript|LOC100125556_uc003eif.4_Non-coding_Transcript|ALG1L_uc003eig.2_Silent_p.R169R	NM_001195223	NP_001182152	Q6GMV1	ALG1L_HUMAN	Homo sapiens asparagine-linked glycosylation 1-like (ALG1L), transcript variant 1, mRNA.	169							transferase activity, transferring glycosyl groups			large_intestine(2)|lung(2)	4						AGCAGGGGTCCCGGGGTTTTA	0.597000														14			17		0	0	0.012319	0	0
CLEC5A	23601	broad.mit.edu	37	7	141635679	141635679	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:141635679C>T	uc003vwv.1	-	4	477	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	CLEC5A_uc011krm.1_Missense_Mutation_p.E71K|CLEC5A_uc003vww.1_Missense_Mutation_p.E94K|CLEC5A_uc010lnq.1_Missense_Mutation_p.E71K|CLEC5A_uc010lnr.1_Intron	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA.	94	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TCCCTGCTTTCATTCCAAGAT	0.428000														62			33		0	0	0.013726	0	0
ZNF425	155054	broad.mit.edu	37	7	148801468	148801468	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:148801468G>A	uc003wfj.3	-	3	1628	c.1495C>T	c.(1495-1497)Ccc>Tcc	p.P499S		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	499					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCGCCGCAGGGAAACTCCTTC	0.632000														30			27		0	0	0.005443	0	0
MUC17	140453	broad.mit.edu	37	7	100686443	100686443	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:100686443C>T	uc003uxp.1	+	2	11799	c.11746C>T	c.(11746-11748)Ccc>Tcc	p.P3916S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3916						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)					TGCCTCAACTCCCACAATTCC	0.498000														80			52		0	0	0.014410	0	0
MKX	283078	broad.mit.edu	37	10	28023641	28023641	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:28023641C>T	uc001ity.4	-	4	807	c.582G>A	c.(580-582)gaG>gaA	p.E194E	MKX_uc001itx.4_Silent_p.E194E	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	194					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TGACCGAATTCTCACTTTTAA	0.488000														74			15		0	0	0.004990	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093442	30093443	+	RNA	DNP	GG	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:30093442_30093443GG>AA	uc010dmc.3	+	0		c.1817_1818GG>AA								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		TGCCCCACCCGGCTTGATTCAG	0.545000														47			57		0	0	0.004672	0	0
KCNQ3	3786	broad.mit.edu	37	8	133152399	133152399	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:133152399C>T	uc003ytj.3	-	10	1717	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	KCNQ3_uc003yti.3_Missense_Mutation_p.E378K|KCNQ3_uc010mdt.3_Missense_Mutation_p.E498K	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	498					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCCCTGTCTTCCGCCATGGGG	0.612000														35			11		0	0	0.013537	0	0
LSG1	55341	broad.mit.edu	37	3	194379758	194379758	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:194379758G>A	uc003fui.3	-	6	1002	c.687C>T	c.(685-687)ttC>ttT	p.F229F		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	Homo sapiens large subunit GTPase 1 homolog (S. cerevisiae) (LSG1), mRNA.	229					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CTTCTTTTTCGAAGTACATGG	0.478000														125			45		0	0	0.011902	0	0
ZNF214	7761	broad.mit.edu	37	11	7022720	7022720	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:7022720G>A	uc009yfh.1	-	2	493	c.194C>T	c.(193-195)tCc>tTc	p.S65F	ZNF214_uc001mfa.2_Missense_Mutation_p.S65F|ZNF214_uc010ray.1_Missense_Mutation_p.S65F	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	Homo sapiens zinc finger protein 214 (ZNF214), mRNA.	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TTGCCAGTAGGAAAAATTTTC	0.393000														147			31		0	0	0.008361	0	0
ATP10B	23120	broad.mit.edu	37	5	160063273	160063273	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:160063273G>A	uc003lym.1	-	10	1891	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	ATP10B_uc003lyp.2_Silent_p.F348F|ATP10B_uc011deg.1_Silent_p.F392F|ATP10B_uc003lyn.3_5'Flank|ATP10B_uc003lyo.2_Silent_p.F320F	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	348					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGGCACATCGAAGGGAGGGT	0.522000														37			30		0	0	0.008361	0	0
TDRKH	11022	broad.mit.edu	37	1	151755386	151755386	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:151755386C>T	uc009wnb.1	-	1	295	c.113G>A	c.(112-114)aGg>aAg	p.R38K	TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.4_Missense_Mutation_p.R38K|TDRKH_uc001ezc.4_Missense_Mutation_p.R38K|TDRKH_uc001eza.4_Missense_Mutation_p.R38K|TDRKH_uc001ezd.4_Missense_Mutation_p.R38K|TDRKH_uc010pdn.1_5'UTR	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	38							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTGCTTTCCCTATACCTGCG	0.473000														114			82		0	0	0.014410	0	0
DPYD	1806	broad.mit.edu	37	1	97700483	97700483	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:97700483G>A	uc001drv.3	-	18	2504	c.2367C>T	c.(2365-2367)ccC>ccT	p.P789P		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	789					'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)	TAGCCAAAATGGGAAATCCAG	0.468000														33			17		0	0	0.004007	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841876	8841876	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:8841876C>T	uc010xkg.2	+	0	486	c.486C>T	c.(484-486)atC>atT	p.I162I		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	162					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						AGACCTCCATCACCCTGCATT	0.552000														87			68		0	0	0.014410	0	0
USP33	23032	broad.mit.edu	37	1	78191401	78191401	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:78191401G>A	uc001dht.3	-	11	1622	c.1275C>T	c.(1273-1275)atC>atT	p.I425I	USP33_uc001dhs.3_Silent_p.I146I|USP33_uc001dhu.3_Silent_p.I394I|USP33_uc001dhv.3_Silent_p.I230I|USP33_uc001dhw.3_Silent_p.I425I	NM_015017	NP_963918	Q8TEY7	UBP33_HUMAN	Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA.	425					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	VCB complex|perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TTGATGGAAGGATCTGTGGTG	0.368000														30			22		0	0	0.014323	0	0
MC5R	4161	broad.mit.edu	37	18	13826435	13826435	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:13826435G>A	uc010xaf.2	+	0	893	c.671G>A	c.(670-672)gGg>gAg	p.G224E		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	224				ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).	G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	p.P223P(1)		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						GCTCTGCCCGGGGCCAGCTCT	0.617000														134			41		0	0	0.007835	0	0
SLC4A5	57835	broad.mit.edu	37	2	74466523	74466523	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:74466523C>T	uc002sko.1	-	15	2260	c.2258G>A	c.(2257-2259)gGg>gAg	p.G753E	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.G753E|SLC4A5_uc010ffc.1_Missense_Mutation_p.G753E|SLC4A5_uc002skp.1_Missense_Mutation_p.G689E|SLC4A5_uc002sks.1_Missense_Mutation_p.G753E	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	753						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGAGTATGTCCCAAAGAAAAG	0.527000														36			13		0	0	0.003163	0	0
ASIC2	40	broad.mit.edu	37	17	31350947	31350947	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:31350947C>T	uc002hht.3	-	5	2154	c.1281G>A	c.(1279-1281)gtG>gtA	p.V427V	ASIC2_uc002hhu.3_Silent_p.V376V	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA.	376					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	TGGGGATCTTCACCATGGAGA	0.478000														22			31		0	0	0.003755	0	0
ICAM5	7087	broad.mit.edu	37	19	10405091	10405091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:10405091G>A	uc002mnu.4	+	8	2070	c.2005G>A	c.(2005-2007)Gat>Aat	p.D669N	ICAM5_uc002mnv.4_Missense_Mutation_p.D544N	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	Homo sapiens intercellular adhesion molecule 5, telencephalin (ICAM5), mRNA.	669	Ig-like C2-type 8.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			ACCGGAGATGGATGAATCTAC	0.692000														41			17		0	0	0.004990	0	0
CATSPER3	347732	broad.mit.edu	37	5	134347235	134347235	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:134347235C>T	uc003lag.3	+	7	1205	c.1119C>T	c.(1117-1119)atC>atT	p.I373I		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	Homo sapiens cation channel, sperm associated 3 (CATSPER3), mRNA.	373					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTATGAGATCGTGCATGTGC	0.557000														17			7		0	0	0.001984	0	0
AGBL1	123624	broad.mit.edu	37	15	86809611	86809611	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:86809611G>A	uc002blz.1	+	10	1616	c.1536G>A	c.(1534-1536)agG>agA	p.R512R	AGBL1_uc002bma.1_Silent_p.R243R|AGBL1_uc002bmb.1_Silent_p.R206R	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	512					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						TCAGGATCAGGATATTTGAGG	0.438000														10			5		0	0	0.001984	0	0
C6orf195	154386	broad.mit.edu	37	6	2623929	2623929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:2623929G>A	uc003mtw.2	-	2	1113	c.128C>T	c.(127-129)cCc>cTc	p.P43L	C6orf195_uc021ykp.1_Missense_Mutation_p.P43L	NM_152554	NP_689767	Q96MT4	CF195_HUMAN	Homo sapiens chromosome 6 open reading frame 195 (C6orf195), mRNA.	43			P -> S (in dbSNP:rs9503233).							cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CCTTAGAGCGGGCCTGGCTCC	0.617000														49			34		0	0	0.012213	0	0
GALC	2581	broad.mit.edu	37	14	88448548	88448548	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:88448548C>T	uc001xvt.3	-	6	728	c.621_splice	c.e6+1	p.K207_splice	GALC_uc010tvw.1_5'Flank|GALC_uc010tvy.2_Splice_Site_p.K184_splice|GALC_uc010tvx.2_Splice_Site_p.K181_splice|GALC_uc010tvz.1_Splice_Site_p.K151_splice|GALC_uc001xvu.2_Splice_Site_p.K207_splice	NM_000153	NP_000144	P54803	GALC_HUMAN	Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.	207					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTTGTACACACCTTAATATAA	0.289000														25			9		0	0	0.008291	0	0
AK302694	0	broad.mit.edu	37	10	31001568	31001568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:31001568C>T	uc010qdx.1	+	8	1552	c.1010C>T	c.(1009-1011)tCc>tTc	p.S337F						SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																		CAATATGTTTCCTAGCTGGGA	0.488000														35			15		0	0	0.004007	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111643176	111643176	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:111643176T>A	uc003kpv.1	-	1	385	c.111A>T	c.(109-111)aaA>aaT	p.K37N	EPB41L4A_uc003kpw.1_Missense_Mutation_p.K37N	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	37	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CAACGGAACCTTTCGTTGACT	0.378000														42			13		0	0	0.013537	0	0
KPNA6	23633	broad.mit.edu	37	1	32620246	32620246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:32620246C>T	uc010ogy.2	+	1	104	c.77C>T	c.(76-78)gCt>gTt	p.A26V	KPNA6_uc001bug.3_Missense_Mutation_p.A21V|KPNA6_uc001buh.3_5'UTR|KPNA6_uc010ogx.2_Missense_Mutation_p.A18V	NM_012316	NP_036448	O60684	IMA7_HUMAN	Homo sapiens karyopherin alpha 6 (importin alpha 7) (KPNA6), mRNA.	21	IBB.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AAGAACAATGCTCTAAACCCT	0.443000														31			12		0	0	0.001855	0	0
DIAPH1	1729	broad.mit.edu	37	5	140896445	140896446	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140896445_140896446GG>AA	uc003llb.4	-	27	3932_3933	c.3791_3792CC>TT	c.(3790-3792)gcc>gTT	p.A1264V	DIAPH1_uc011dbd.2_3'UTR|DIAPH1_uc003llc.4_Missense_Mutation_p.A1255V|DIAPH1_uc021yep.1_Missense_Mutation_p.A1264V|DIAPH1_uc021yeq.1_Missense_Mutation_p.A1255V	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	1264					regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAACTCCTTGGCTTCCTCAAG	0.579000														27			20		0	0	0.004672	0	0
POLR2B	5431	broad.mit.edu	37	4	57873037	57873037	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:57873037C>T	uc003hcl.1	+	9	1316	c.1273C>T	c.(1273-1275)Cga>Tga	p.R425*	POLR2B_uc011cae.1_Nonsense_Mutation_p.R418*|POLR2B_uc011caf.1_Nonsense_Mutation_p.R350*|POLR2B_uc003hcm.1_5'Flank	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	425					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ATTTATTGATCGAGGAAAGGA	0.343000														71			26		0	0	0.005443	0	0
FLT4	2324	broad.mit.edu	37	5	180043463	180043463	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:180043463C>T	uc003mlz.4	-	22	3202	c.3123G>A	c.(3121-3123)cgG>cgA	p.R1041R	FLT4_uc003mma.4_Silent_p.R1041R	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	1041	Protein kinase.		R -> P (in LMPH1A; loss of kinase activity).		positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCAGAATGTTCCGAGCAGCCA	0.617000														22			18		0	0	0.012319	0	0
GPR174	84636	broad.mit.edu	37	X	78426748	78426748	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:78426748C>T	uc004edg.1	+	0	280	c.244C>T	c.(244-246)Cat>Tat	p.H82Y		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.	82						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CTACTTGAATCATGACTGGCC	0.418000										HNSCC(63;0.18)				8			16		0	0	0.003163	0	0
WDR62	284403	broad.mit.edu	37	19	36575559	36575559	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:36575559C>T	uc002odd.2	+	11	1646	c.1555C>T	c.(1555-1557)Cac>Tac	p.H519Y	WDR62_uc002odc.2_Missense_Mutation_p.H519Y	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	519					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCCAGGATCCACGAGCTGCA	0.607000														46			32		0	0	0.003271	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454684	84454684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:84454684C>T	uc001vlk.3	-	0	1845	c.959G>A	c.(958-960)aGa>aAa	p.R320K		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	320						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGCTGTGGGTCTGATTTTGAT	0.557000														56			25		0	0	0.003330	0	0
GPR4	2828	broad.mit.edu	37	19	46094627	46094627	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:46094627G>A	uc002pcm.3	-	1	1443	c.498C>T	c.(496-498)acC>acT	p.T166T	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Silent_p.T166T	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	166						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CAAAGCAGAAGGTGTGGTTGT	0.637000														91			39		0	0	0.013114	0	0
EPHA4	2043	broad.mit.edu	37	2	222294725	222294725	+	Silent	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:222294725G>A	uc002vmq.3	-	14	2685	c.2643C>T	c.(2641-2643)ctC>ctT	p.L881L	EPHA4_uc002vmr.2_Silent_p.L881L|EPHA4_uc010zlm.1_Silent_p.L822L	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	881	Protein kinase.					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)		GGTTGCGGATGAGTTTGTCCA	0.512000														87			71		0	0	0.014410	0	0
LRRC10	376132	broad.mit.edu	37	12	70003895	70003895	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:70003895C>T	uc001svc.3	-	0	1048	c.724G>A	c.(724-726)Gag>Aag	p.E242K		NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	Homo sapiens leucine rich repeat containing 10 (LRRC10), mRNA.	242						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GGCGTCTCCTCTGCCCATCTC	0.592000														39			26		0	0	0.004656	0	0
ZNF536	9745	broad.mit.edu	37	19	30935917	30935917	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:30935917G>A	uc002nsu.1	+	1	1586	c.1448G>A	c.(1447-1449)gGg>gAg	p.G483E	ZNF536_uc010edd.1_Missense_Mutation_p.G483E	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GTCCCGGAGGGGGACAAGCAC	0.652000														51			24		0	0	0.003954	0	0
SNX19	399979	broad.mit.edu	37	11	130785160	130785161	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:130785160_130785161GG>AA	uc001qgk.4	-	0	1222_1223	c.674_675CC>TT	c.(673-675)ccc>cTT	p.P225L	SNX19_uc010sce.2_Intron|SNX19_uc010scf.2_Intron|SNX19_uc010scg.2_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.P225L|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	Homo sapiens sorting nexin 19 (SNX19), mRNA.	225	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		AGTGGGGCTTGGGCACCAGCCC	0.554000														14			18		0	0	0.004672	0	0
OGDH	4967	broad.mit.edu	37	7	44734097	44734097	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:44734097C>T	uc003tln.3	+	11	1749	c.1590C>T	c.(1588-1590)atC>atT	p.I530I	OGDH_uc011kbx.2_Silent_p.I526I|OGDH_uc011kby.2_Silent_p.I380I|OGDH_uc003tlp.3_Silent_p.I541I|OGDH_uc011kbz.2_Silent_p.I325I|OGDH_uc003tlo.1_Silent_p.I363I	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	530					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)	ACAAGCAGATCCGCAAGCAGA	0.572000														45			19		0	0	0.007413	0	0
OSMR	9180	broad.mit.edu	37	5	38884197	38884197	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:38884197C>T	uc003jln.2	+	4	1089	c.687C>T	c.(685-687)atC>atT	p.I229I	OSMR_uc003jlm.2_Silent_p.I229I	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	229					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TGAAAGGCATCGTTCTTTTTG	0.373000														100			53		0	0	0.014410	0	0
OSBP	5007	broad.mit.edu	37	11	59345628	59345628	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:59345628G>A	uc001noc.1	-	11	2534	c.2054C>T	c.(2053-2055)cCt>cTt	p.P685L	OSBP_uc009ymr.1_Non-coding_Transcript	NM_002556	NP_002547	P22059	OSBP1_HUMAN	Homo sapiens oxysterol binding protein (OSBP), mRNA.	685					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TCACGGTAAAGGATTCCTTTT	0.478000														63			22		0	0	0.003330	0	0
SDPR	8436	broad.mit.edu	37	2	192701381	192701381	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:192701381C>T	uc002utb.3	-	1	901	c.546G>A	c.(544-546)ggG>ggA	p.G182G		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	182						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GCTCCTCCTTCCCTTCCACGG	0.522000														42			9		0	0	0.008291	0	0
FMO3	2328	broad.mit.edu	37	1	171079999	171079999	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:171079999C>T	uc001ghi.3	+	5	799	c.688C>T	c.(688-690)Cct>Tct	p.P230S	FMO3_uc001ghh.3_Missense_Mutation_p.P230S|FMO3_uc010pmb.2_Missense_Mutation_p.P210S|FMO3_uc010pmc.2_Missense_Mutation_p.P167S	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	230					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAATGGTTATCCTTGGGACAT	0.463000														95			66		0	0	0.014410	0	0
GABRG1	2565	broad.mit.edu	37	4	46067417	46067417	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:46067417C>T	uc003gxb.3	-	3	658	c.506G>A	c.(505-507)cGa>cAa	p.R169Q		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	169					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.R169*(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		ATTCCAAATTCGAAGCAGACG	0.323000														47			27		0	0	0.008361	0	0
CDS1	1040	broad.mit.edu	37	4	85562059	85562059	+	Silent	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:85562059C>T	uc011ccv.2	+	9	1446	c.948C>T	c.(946-948)tcC>tcT	p.S316S	CDS1_uc010ike.1_Silent_p.S120S	NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	316					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		ATGTAAACTCCTTCGTGACAG	0.403000														91			51		0	0	0.014410	0	0
C7	730	broad.mit.edu	37	5	40947812	40947812	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:40947812C>T	uc003jmh.3	+	7	961	c.847C>T	c.(847-849)Ctc>Ttc	p.L283F	C7_uc011cpn.1_Intron	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	283	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GCTTTCCCACCTCCCCTCTCT	0.448000														51			32		0	0	0.012213	0	0
RECQL4	9401	broad.mit.edu	37	8	145741611	145741611	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:145741611G>A	uc003zdj.3	-	4	934	c.892C>T	c.(892-894)Cct>Tct	p.P298S	LRRC14_uc003zdk.2_5'Flank|LRRC14_uc003zdl.2_5'Flank|DQ579335_uc022bcp.1_5'Flank	NM_004260	NP_004251	O94761	RECQ4_HUMAN	Homo sapiens RecQ protein-like 4 (RECQL4), mRNA.	298					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|bubble DNA binding|zinc ion binding	p.D297H(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCCCCTGGAGGGTCTTCCTCA	0.662000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome					31			16		0	0	0.004990	0	0
CACNA1S	779	broad.mit.edu	37	1	201028418	201028418	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:201028418G>A	uc001gvv.3	-	26	3651	c.3424C>T	c.(3424-3426)Cag>Tag	p.Q1142*		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1142					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGCTCCGACTGGTTGTAGTGC	0.572000														35			17		0	0	0.004990	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725660	140725660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140725660C>T	uc003ljm.2	+	0	2060	c.2060C>T	c.(2059-2061)tCg>tTg	p.S687L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.S687L	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	688					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)			CCCAACGATTCGGACCTCACT	0.687000														48			35		0	0	0.014410	0	0
CHRM2	1129	broad.mit.edu	37	7	136700040	136700040	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:136700040T>G	uc003vtf.1	+	3	1051	c.428T>G	c.(427-429)aTg>aGg	p.M143R	CHRM2_uc003vtg.1_Missense_Mutation_p.M143R|CHRM2_uc003vti.1_Missense_Mutation_p.M143R|CHRM2_uc003vtm.1_Missense_Mutation_p.M143R|CHRM2_uc003vtj.1_Missense_Mutation_p.M143R|CHRM2_uc003vtk.1_Missense_Mutation_p.M143R|CHRM2_uc003vtl.1_Missense_Mutation_p.M143R|CHRM2_uc003vtn.1_Missense_Mutation_p.M143R|CHRM2_uc003vto.1_Missense_Mutation_p.M143R|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.M143R	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	143					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GCAGGTATGATGATTGCAGCT	0.502000														59			41		0	0	0.007835	0	0
DNAH7	56171	broad.mit.edu	37	2	196759929	196759936	+	Frame_Shift_Del	DEL	AACAAATC	-	-			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:196759929_196759936delAACAAATC	uc002utj.4	-	29	4761_4768	c.4660_4667delGATTTGTT	c.(4660-4668)gatttgtttfs	p.D1554fs		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1554					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S1553S(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						TACCCCAGGAAACAAATCCGAAGTAATT	0.317													---	34	---	---	9	---					
LIMD1	8994	broad.mit.edu	37	3	45718420	45718420	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:45718420delG	uc003coq.3	+	7	1949	c.1900delG	c.(1900-1902)ggtfs	p.G634fs		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	Homo sapiens LIM domains containing 1 (LIMD1), mRNA.	634	LIM zinc-binding 3.|Necessary for nuclear localization.				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|nucleus	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		ACAGGACTGTGGTCTGGAGCT	0.557													---	147	---	---	79	---					
POLR2B	5431	broad.mit.edu	37	4	57860959	57860961	+	In_Frame_Del	DEL	ATC	-	-			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:57860959_57860961delATC	uc003hcl.1	+	4	546_548	c.503_505delATC	c.(502-507)gatcgt>ggt	p.168_169DR>G	POLR2B_uc011cae.1_In_Frame_Del_p.161_162DR>G|POLR2B_uc011caf.1_In_Frame_Del_p.93_94DR>G	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	168					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GGCTTGACAGATCGTGATCTTTG	0.340													---	61	---	---	21	---					
C6	729	broad.mit.edu	37	5	41149487	41149523	+	Frame_Shift_Del	DEL	GATTATTTAAACATTTCTCAGCCAAAAACTTACAAGC	-	-	rs141740354		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:41149487_41149523delGATTATTTAAACATTTCTCAGCCAAAAACTTACAAGC	uc003jmk.2	-	16	2653_2689	c.2443_2479delGCTTGTAAGTTTTTGGCTGAGAAATGTTTAAATAATC	c.(2443-2481)gcttgtaagtttttggctgagaaatgtttaaataatcagfs	p.A815fs	C6_uc003jml.1_Frame_Shift_Del_p.A815fs	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	815	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.K817R(2)|p.E821D(2)|p.K817T(2)		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)				TGGAGTTGCTGATTATTTAAACATTTCTCAGCCAAAAACTTACAAGCGGGTGAAGTA	0.414													---	126	---	---	10	---					
TRRAP	8295	broad.mit.edu	37	7	98574287	98574311	+	Frame_Shift_Del	DEL	CGCTGATGTTGGAGCACCAGGCTTT	-	-			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:98574287_98574311delCGCTGATGTTGGAGCACCAGGCTTT	uc003upp.3	+	53	8329_8353	c.8120_8144delCGCTGATGTTGGAGCACCAGGCTTT	c.(8119-8145)acgctgatgttggagcaccaggcttttfs	p.T2707fs	TRRAP_uc011kis.2_Frame_Shift_Del_p.T2689fs|TRRAP_uc003upr.3_Frame_Shift_Del_p.T2406fs	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2707	FAT.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTCCGGTCCACGCTGATGTTGGAGCACCAGGCTTTTGAAAAGGGT	0.569													---	72	---	---	10	---					
MUC17	140453	broad.mit.edu	37	7	100682344	100682344	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:100682344delT	uc003uxp.1	+	2	7700	c.7647delT	c.(7645-7647)tctfs	p.S2549fs	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2549	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)					TGGTCACTTCTACTGAAATCA	0.478													---	237	---	---	133	---					
DLC1	10395	broad.mit.edu	37	8	12968281	12968281	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:12968281delA	uc003wwm.2	-	6	1916	c.1472delT	c.(1471-1473)ttgfs	p.L491fs	DLC1_uc003wwk.1_Frame_Shift_Del_p.L54fs|DLC1_uc003wwl.1_Frame_Shift_Del_p.L88fs|DLC1_uc011kxx.1_5'UTR	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	491	SAM.				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						ATCTCTGTCCAAAAAATCATG	0.368													---	150	---	---	84	---					
FAM102A	399665	broad.mit.edu	37	9	130716156	130716157	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:130716156_130716157insA	uc004bsx.2	-	1	590_591	c.194_195insT	c.(193-195)ttcfs	p.F65fs		NM_001035254	NP_976050	Q5T9C2	F102A_HUMAN	Homo sapiens family with sequence similarity 102, member A (FAM102A), transcript variant 1, mRNA.	65										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						TCTTACACACGAAGGTGAACCT	0.634													---	32	---	---	10	---					
SGPL1	8879	broad.mit.edu	37	10	72628160	72628160	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:72628160delC	uc001jrm.3	+	7	896	c.674delC	c.(673-675)gccfs	p.A225fs	SGPL1_uc009xqk.3_5'Flank	NM_003901	NP_003892	O95470	SGPL1_HUMAN	Homo sapiens sphingosine-1-phosphate lyase 1 (SGPL1), mRNA.	225					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	CGGGATCTGGCCTTTGAGAAG	0.443													---	98	---	---	17	---					
LLGL2	3993	broad.mit.edu	37	17	73539582	73539583	+	Splice_Site	INS	-	GT	GT	rs112645203		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:73539582_73539583insGT	uc002joh.3	+	2	229	c.75_splice	c.e2+1	p.K25_splice	LLGL2_uc002jog.1_Splice_Site_p.K25_splice|LLGL2_uc010dgf.1_Splice_Site_p.K25_splice|LLGL2_uc002joi.3_Splice_Site_p.K25_splice|LLGL2_uc010dgg.2_Splice_Site_p.K25_splice	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	25					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGTTTAACAAGgtaagttaggg	0.564													---	52	---	---	23	---					
FASN	2194	broad.mit.edu	37	17	80049118	80049118	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:80049118delG	uc002kdu.3	-	8	1589	c.1472delC	c.(1471-1473)ccgfs	p.P491fs	FASN_uc002kdw.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	491	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GAACCAGAGCGGGCGCTCGCC	0.697													---	9	---	---	9	---					
CTAGE1	64693	broad.mit.edu	37	18	19995591	19995591	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:19995591delA	uc002ktv.1	-	0	2288	c.2184delT	c.(2182-2184)tttfs	p.F728fs		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	728	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGTAAGGAAGAAAACCTCTCG	0.488													---	22	---	---	10	---					
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	-	-			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:47935681_47935683delTCC	uc010ele.3	-	7	2146_2148	c.2130_2132delGGA	c.(2128-2133)gaggac>gac	p.E710del	SLC8A2_uc002pgx.3_In_Frame_Del_p.E710del|SLC8A2_uc010xyq.2_In_Frame_Del_p.E466del|SLC8A2_uc010xyr.2_In_Frame_Del_p.E173del			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	710					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616													---	126	---	---	9	---					
CECR2	27443	broad.mit.edu	37	22	18022246	18022246	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:18022246delT	uc010gqw.1	+	14	2342	c.2342delT	c.(2341-2343)ctcfs	p.L781fs	CECR2_uc010gqv.1_Frame_Shift_Del_p.L642fs|CECR2_uc002zml.2_Frame_Shift_Del_p.L642fs	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	825					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCTCGCACTCTCGGTCACGTG	0.602													---	41	---	---	21	---