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
KALRN	8997	broad.mit.edu	37	3	124415066	124415066	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:124415066G>A	uc003ehg.3	+	53	7790	c.7663G>A	c.(7663-7665)Ggg>Agg	p.G2555R	KALRN_uc003ehk.3_Missense_Mutation_p.G858R	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2554	Ig-like C2-type.				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						AAATGACCACGGGACCACATC	0.413000														36			8		0	0	0.000157383	0	0
PHC2	1912	broad.mit.edu	37	1	33797949	33797949	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:33797949G>A	uc009vuh.1	-	10	2307	c.1818C>T	c.(1816-1818)ttC>ttT	p.F606F	PHC2_uc001bxg.1_Silent_p.F605F|PHC2_uc001bxh.1_Silent_p.F577F|PHC2_uc001bxe.1_Silent_p.F70F|PHC2_uc001bxf.1_Silent_p.F20F	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	Homo sapiens polyhomeotic homolog 2 (Drosophila) (PHC2), transcript variant 1, mRNA.	605					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TCTCAGGCAGGAACCCCTGTG	0.582000														50			39		0	0	0.00148497	0	0
ARHGAP5	394	broad.mit.edu	37	14	32562338	32562338	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:32562338C>T	uc001wrl.3	+	1	2702	c.2463C>T	c.(2461-2463)atC>atT	p.I821I	ARHGAP5_uc001wrm.3_Silent_p.I821I|ARHGAP5_uc001wrn.3_Silent_p.I821I|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	821					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTGATAAAATCATTGGTGAAA	0.353000														64			15		0	0	0.000308642	0	0
RIN2	54453	broad.mit.edu	37	20	19955746	19955747	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:19955746_19955747CC>TT	uc002wro.2	+	7	1373_1374	c.1224_1225CC>TT	c.(1222-1227)ccccgg>ccTTgg	p.R409W	RIN2_uc010gcu.2_Intron|RIN2_uc010gcv.2_Missense_Mutation_p.R154W	NM_001242581	NP_001229510	Q8WYP3	RIN2_HUMAN	Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA.	360					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TCCCTCCACCCCGGCTGAAGAA	0.609000														39			11		0	0	6.4e-05	0	0
KCNH2	3757	broad.mit.edu	37	7	150647470	150647470	+	Silent	SNP	G	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:150647470G>T	uc003wic.3	-	8	2585	c.2184C>A	c.(2182-2184)atC>atA	p.I728I	KCNH2_uc003wib.3_Silent_p.I388I|KCNH2_uc011kux.2_Silent_p.I632I|KCNH2_uc003wid.3_Silent_p.I388I|KCNH2_uc003wie.3_Silent_p.I728I	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	728					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GGTGCAGGCAGATGTCAGCCT	0.647000														62			20		3.7963e-18	2.57231e-17	0.00047179	1	0
PDE4C	5143	broad.mit.edu	37	19	18331715	18331715	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:18331715G>T	uc010xqc.2	-	4	1044	c.564C>A	c.(562-564)aaC>aaA	p.N188K	PDE4C_uc002nik.4_Missense_Mutation_p.N188K|PDE4C_uc002nil.4_Missense_Mutation_p.N188K|PDE4C_uc002nig.4_Intron|PDE4C_uc002nih.4_Intron|PDE4C_uc010ebk.3_Missense_Mutation_p.N82K|PDE4C_uc002nii.4_Missense_Mutation_p.N156K|PDE4C_uc002nif.4_Intron|PDE4C_uc010ebl.3_5'UTR|PDE4C_uc010ebm.1_Intron|PDE4C_uc002nim.1_Intron	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	188					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	TGGATGAAGGGTTTCCGACGG	0.652000														18			4		0.000602214	0.00398546	0.000602214	1	0
PARP9	83666	broad.mit.edu	37	3	122259595	122259595	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:122259595C>T	uc010hri.3	-	7	1739	c.1594G>A	c.(1594-1596)Gca>Aca	p.A532T	PARP9_uc003eff.4_Missense_Mutation_p.A497T|PARP9_uc011bjs.2_Missense_Mutation_p.A497T|PARP9_uc003efg.3_Missense_Mutation_p.A77T|PARP9_uc003efi.3_Missense_Mutation_p.A497T|PARP9_uc003efh.3_Missense_Mutation_p.A532T|PARP9_uc003efj.2_Missense_Mutation_p.A497T	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.	532					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	p.A532T(2)		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)		TGGATCCATGCGTGGGCCTCA	0.448000														84			26		0	0	0.00106085	0	0
FCGBP	8857	broad.mit.edu	37	19	40433468	40433468	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:40433468G>A	uc002omp.4	-	1	809	c.801C>T	c.(799-801)ttC>ttT	p.F267F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	267	IgGFc-binding.					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)			TGGCCACAACGAAGGCCAAAT	0.597000														14			12		0	0	0.000151284	0	0
GLB1	2720	broad.mit.edu	37	3	33065758	33065758	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:33065758C>T	uc011axk.1	-	11	1389	c.1272G>A	c.(1270-1272)aaG>aaA	p.K424K	GLB1_uc003cfh.1_Silent_p.K346K|GLB1_uc003cfi.1_Silent_p.K376K|GLB1_uc003cfj.1_Silent_p.K245K	NM_001079811	NP_001073279	P16278	BGAL_HUMAN	Homo sapiens galactosidase, beta 1 (GLB1), transcript variant 2, mRNA.	376					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				CCAAAGTGACCTTTCCATATG	0.353000														12			7		0	0	0.000157383	0	0
FAM194A	131831	broad.mit.edu	37	3	150403761	150403761	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:150403761C>G	uc003eyg.3	-	4	715	c.658G>C	c.(658-660)Gag>Cag	p.E220Q	FAM194A_uc003eyh.3_Missense_Mutation_p.E74Q	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	220										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ACCTCCAGCTCATATAAAATA	0.333000														72			17		0	0	0.00047179	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54919610	54919610	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:54919610C>T	uc003dhf.3	+	22	2101	c.2053C>T	c.(2053-2055)Cag>Tag	p.Q685*	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Nonsense_Mutation_p.Q591*|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Nonsense_Mutation_p.Q419*|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	685						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		ACCTCTGCTCCAGTGTGAGTA	0.473000														10			6		0	0	8.12818e-05	0	0
WWC1	23286	broad.mit.edu	37	5	167850762	167850763	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:167850762_167850763CC>TT	uc003lzu.3	+	10	1592_1593	c.1499_1500CC>TT	c.(1498-1500)acc>aTT	p.T500I	WWC1_uc003lzv.3_Missense_Mutation_p.T500I|WWC1_uc011den.2_Missense_Mutation_p.T500I|WWC1_uc003lzw.3_Missense_Mutation_p.T299I	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	500					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TGCATCACCACCATCCACGAGG	0.639000														21			33		0	0	6.4e-05	0	0
CPZ	8532	broad.mit.edu	37	4	8621144	8621144	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:8621144G>A	uc003glm.3	+	10	1933	c.1759G>A	c.(1759-1761)Gga>Aga	p.G587R	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.G576R|CPZ_uc003gln.3_Missense_Mutation_p.G450R	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	587					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCTGGGGATGGGACCCAAGAA	0.627000														36			11		0	0	0.00136819	0	0
SLC8A3	6547	broad.mit.edu	37	14	70522526	70522526	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:70522526G>A	uc001xly.3	-	3	2647	c.1893C>T	c.(1891-1893)ctC>ctT	p.L631L	SLC8A3_uc001xlv.3_Intron|SLC8A3_uc001xlu.3_Intron|SLC8A3_uc001xlw.3_Silent_p.L631L|SLC8A3_uc001xlx.3_Silent_p.L632L|SLC8A3_uc001xlz.3_Intron|SLC8A3_uc010ara.3_Intron|SLC8A3_uc001xma.2_Intron	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	631					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.A630A(1)|p.A630E(1)		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)		GAGATAACAGGAGCGCTGTTT	0.413000														33			13		0	0	0.000308642	0	0
ACSL5	51703	broad.mit.edu	37	10	114177625	114177625	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:114177625C>T	uc001kzu.3	+	13	1520	c.1408C>T	c.(1408-1410)Cgt>Tgt	p.R470C	ACSL5_uc001kzs.3_Missense_Mutation_p.R414C|ACSL5_uc001kzt.3_Missense_Mutation_p.R414C|ACSL5_uc009xxz.3_Missense_Mutation_p.R414C|ACSL5_uc010qrj.2_Missense_Mutation_p.R196C	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	414					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.R470C(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CGGAAGGGTTCGTGTAATTGT	0.473000														78			23		0	0	0.000720815	0	0
SLC36A2	153201	broad.mit.edu	37	5	150704867	150704867	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:150704867G>A	uc003lty.3	-	7	1120	c.990C>T	c.(988-990)agC>agT	p.S330S	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Silent_p.S132S|SLC36A2_uc010jhv.2_Silent_p.S330S	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	330					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGGTTAAGGCTTATGCTGG	0.537000														5			9		0	0	0.000274275	0	0
PDE2A	5138	broad.mit.edu	37	11	72292005	72292005	+	Silent	SNP	G	A	A	rs146299609	byFrequency	TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:72292005G>A	uc010rrc.2	-	23	2304	c.2058C>T	c.(2056-2058)atC>atT	p.I686I	PDE2A_uc001oso.3_Silent_p.I665I|PDE2A_uc010rra.2_Silent_p.I679I|PDE2A_uc001osn.3_Silent_p.I430I|PDE2A_uc010rrb.2_Silent_p.I677I|PDE2A_uc010rrd.2_Silent_p.I571I	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	686	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	ACAAGGCAAAGATCTCGATGT	0.512000														143			36		0	0	0.00148497	0	0
PKD1	5310	broad.mit.edu	37	16	2149654	2149654	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:2149654G>A	uc002cos.1	-	29	10250	c.10041C>T	c.(10039-10041)tcC>tcT	p.S3347S	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.S3347S|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	3347					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						CCTTGCTCCGGGACATCCGGA	0.647000														5			3		0	0	0.000602214	0	0
PNLIP	5406	broad.mit.edu	37	10	118306870	118306870	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:118306870G>A	uc001lcm.3	+	2	154	c.111G>A	c.(109-111)acG>acA	p.T37T		NM_000936	NP_000927	P16233	LIPP_HUMAN	Homo sapiens pancreatic lipase (PNLIP), mRNA.	37					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	CAGGAATTACGGAAAGACCCC	0.428000														44			14		0	0	0.000422831	0	0
NRK	203447	broad.mit.edu	37	X	105153188	105153188	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chrX:105153188G>A	uc004emd.3	+	12	1858	c.1555G>A	c.(1555-1557)Gaa>Aaa	p.E519K	NRK_uc010npc.1_Missense_Mutation_p.E187K	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	519	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGTACCAGAGGAATTTCAGGG	0.547000										HNSCC(51;0.14)				3			10		0	0	0.000442599	0	0
LILRA1	11024	broad.mit.edu	37	19	55085818	55085818	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:55085818C>T	uc010ern.3	+	3	590	c.121C>T	c.(121-123)Cag>Tag	p.Q41*	LILRA1_uc002qgg.4_Nonsense_Mutation_p.Q41*|LILRA1_uc002qgf.3_Nonsense_Mutation_p.Q41*|LILRA1_uc010yfe.1_Nonsense_Mutation_p.Q41*|LILRA1_uc010yff.1_Nonsense_Mutation_p.Q29*|LILRA1_uc010ero.3_Nonsense_Mutation_p.Q29*|LILRA1_uc010yfg.1_Nonsense_Mutation_p.Q41*			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	41	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.T40I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGTGATCATCCAGGGAAGTCC	0.537000														38			22		0	0	0.00047179	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217156	150217156	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:150217156G>A	uc003whk.3	+	1	224	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	GIMAP7_uc022apu.1_Missense_Mutation_p.E32K	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	32							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTTGGAGAGGAAATCTTTGA	0.507000														39			36		0	0	0.00058488	0	0
DMP1	1758	broad.mit.edu	37	4	88583543	88583543	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:88583543G>A	uc003hqv.3	+	5	717	c.613G>A	c.(613-615)Gga>Aga	p.G205R	DMP1_uc003hqw.3_Missense_Mutation_p.G189R	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	205					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GAGCAGCCATGGAGACGGCTC	0.572000														34			8		0	0	0.000274275	0	0
EVC2	132884	broad.mit.edu	37	4	5687164	5687164	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:5687164G>A	uc003gij.3	-	5	803	c.749C>T	c.(748-750)gCt>gTt	p.A250V	EVC2_uc003gik.3_Missense_Mutation_p.A170V|EVC2_uc011bwb.2_5'UTR	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	250						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GAGGTCTCCAGCCTGGAGCGT	0.587000														58			13		0	0	0.000151284	0	0
EGFR	1956	broad.mit.edu	37	7	55214303	55214303	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:55214303C>T	uc003tqk.3	+	3	675	c.429C>T	c.(427-429)atC>atT	p.I143I	EGFR_uc003tqh.3_Silent_p.I143I|EGFR_uc003tqi.3_Silent_p.I143I|EGFR_uc003tqj.3_Silent_p.I143I|EGFR_uc022adm.1_Silent_p.I143I|EGFR_uc010kzg.2_Intron|EGFR_uc022adn.1_Intron|EGFR_uc011kco.2_Silent_p.I90I	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	143					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCGCAGAAATCCTGCATGGCG	0.517000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				41			5		0	0	0.00116845	0	0
FHL3	2275	broad.mit.edu	37	1	38465046	38465046	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:38465046G>A	uc001cck.3	-	1	218	c.39C>T	c.(37-39)tcC>tcT	p.S13S	FHL3_uc001ccm.3_Intron|FHL3_uc009vvl.2_Silent_p.S13S	NM_004468	NP_004459	Q13643	FHL3_HUMAN	Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA.	13					muscle organ development		zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTCCATACAGGGACTCGTTGC	0.542000														10			4		0	0	0.000602214	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	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					49			65		0	0	0.000781405	0	0
CABP4	57010	broad.mit.edu	37	11	67223192	67223192	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:67223192C>T	uc001olo.3	+	0	375	c.298C>T	c.(298-300)Cgt>Tgt	p.R100C	GPR152_uc001olm.3_5'Flank|CABP4_uc001oln.3_5'UTR	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	100					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCACCGACATCGTCCTGACTC	0.677000														12			8		0	0	0.000274275	0	0
ABCA12	26154	broad.mit.edu	37	2	215910714	215910714	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:215910714T>A	uc002vew.3	-	6	939	c.719A>T	c.(718-720)aAg>aTg	p.K240M	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.	240					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.K240T(2)		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)		AAACACTATCTTCTGATTGTT	0.363000														43			13		0	0	0.000219431	0	0
ZNF428	126299	broad.mit.edu	37	19	44111830	44111830	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:44111830G>A	uc002oxa.3	-	2	941	c.506C>T	c.(505-507)tCc>tTc	p.S169F	SRRM5_uc002oxb.2_Intron	NM_182498	NP_872304	Q96B54	ZN428_HUMAN	Homo sapiens zinc finger protein 428 (ZNF428), mRNA.	169						intracellular	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5		Prostate(69;0.0153)				GTTGTCGAAGGAATCCTCACA	0.652000														16			4		0	0	0.000602214	0	0
TRIP12	9320	broad.mit.edu	37	2	230655878	230655878	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:230655878G>A	uc002vpx.1	-	29	4533	c.4424C>T	c.(4423-4425)tCc>tTc	p.S1475F	TRIP12_uc021vxw.1_Missense_Mutation_p.S1460F|TRIP12_uc002vpy.1_Missense_Mutation_p.S1157F|TRIP12_uc002vpw.1_Missense_Mutation_p.S1427F	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1427					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATTTCTAGGGGAAGTTTTCGT	0.398000														73			40		0	0	0.000589545	0	0
TRAF1	7185	broad.mit.edu	37	9	123675942	123675942	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:123675942C>T	uc004bku.2	-	4	941	c.369G>A	c.(367-369)atG>atA	p.M123I	TRAF1_uc011lyg.2_Missense_Mutation_p.M1I|TRAF1_uc010mvl.2_Missense_Mutation_p.M123I	NM_005658	NP_001177876	Q13077	TRAF1_HUMAN	Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA.	123					apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						TCCACTGTTTCATGAACCCCA	0.612000														25			22		0	0	0.000295444	0	0
C11orf70	85016	broad.mit.edu	37	11	101946721	101946721	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:101946721G>A	uc001pgp.3	+	4	586	c.553G>A	c.(553-555)Gat>Aat	p.D185N	C11orf70_uc001pgo.3_3'UTR|C11orf70_uc001pgq.3_Missense_Mutation_p.D147N	NM_032930	NP_116319	Q9BRQ4	CK070_HUMAN	Homo sapiens chromosome 11 open reading frame 70 (C11orf70), transcript variant 1, mRNA.	185										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		TCAATATGAGGATGTGATTAG	0.358000														54			34		0	0	0.000692331	0	0
ACSM2B	348158	broad.mit.edu	37	16	20570742	20570742	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:20570742G>A	uc002dhj.4	-	3	415	c.205C>T	c.(205-207)Ctg>Ttg	p.L69L	ACSM2B_uc002dhk.4_Silent_p.L69L|ACSM2B_uc010bwf.1_Silent_p.L69L	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.	69					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ACCCACCACAGGGCTGGGCTT	0.527000														14			7		0	0	0.000978159	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024592	55024592	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr18:55024592C>T	uc002lgn.3	+	2	1108	c.751C>T	c.(751-753)Cac>Tac	p.H251Y		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	251					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			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)		ATTTTTCTTCCACACTTCAGC	0.403000														22			32		0	0	0.000339439	0	0
GPR137	56834	broad.mit.edu	37	11	64056683	64056683	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:64056683C>T	uc010rni.2	+	8	1302	c.1274C>T	c.(1273-1275)cCc>cTc	p.P425L	GPR137_uc010rnj.2_3'UTR|GPR137_uc001nzf.3_3'UTR|GPR137_uc001nzi.3_3'UTR|GPR137_uc021qkt.1_Missense_Mutation_p.P367L|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank|KCNK4_uc001nzl.1_5'Flank|KCNK4_uc001nzm.4_5'Flank|KCNK4_uc001nzn.1_5'Flank	NM_001170726	NP_001164197	Q96N19	G137A_HUMAN	Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA.	367						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CCTCCCTCCCCCACAGAATAC	0.647000														38			10		0	0	0.000442599	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48809178	48809178	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:48809178C>T	uc002rwp.2	+	1	1520	c.1406C>T	c.(1405-1407)tCc>tTc	p.S469F	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.S469F|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.S469F|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.S469F|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.S469F	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	469					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		p.E468*(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CGAGATGAATCCTATTATGAG	0.368000														55			46		0	0	0.000781405	0	0
SLC22A9	114571	broad.mit.edu	37	11	63143144	63143144	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:63143144C>T	uc001nww.3	+	4	1126	c.858C>T	c.(856-858)ctC>ctT	p.L286L	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	286					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTCGGTGGCTCATTATCAACA	0.448000														49			9		0	0	0.000274275	0	0
TCRA	0	broad.mit.edu	37	14	22363157	22363157	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	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														42			20		0	0	0.00121646	0	0
LILRB5	10990	broad.mit.edu	37	19	54759989	54759989	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:54759989C>T	uc010yer.1	-	3	656	c.545G>A	c.(544-546)tGg>tAg	p.W182*	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Nonsense_Mutation_p.W191*|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Nonsense_Mutation_p.W191*|LILRB5_uc002qfa.1_Intron|LILRB5_uc010yes.1_Intron			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	191	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCTGAACCTCCACCTGCAGCT	0.567000														25			26		0	0	0.000720815	0	0
LINC00207	388910	broad.mit.edu	37	22	44966447	44966447	+	RNA	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr22:44966447G>A	uc011aqg.2	+	2		c.237G>A			LINC00207_uc021wre.1_Non-coding_Transcript|LINC00207_uc011aqh.2_Non-coding_Transcript					Homo sapiens long intergenic non-protein coding RNA 207 (LINC00207), transcript variant 1, non-coding RNA.											lung(3)	3						AACCAGAGGGGAACACCGTGC	0.507000														5			5		0	0	8.12818e-05	0	0
PAM	5066	broad.mit.edu	37	5	102361011	102361011	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:102361011C>T	uc003knt.3	+	22	3035	c.2662C>T	c.(2662-2664)Cgg>Tgg	p.R888W	PAM_uc003knw.3_Missense_Mutation_p.R888W|PAM_uc003kns.3_Missense_Mutation_p.R781W|PAM_uc003knu.3_Intron|PAM_uc011cuz.2_Missense_Mutation_p.R790W|PAM_uc003knv.3_Intron|PAM_uc003knz.3_Missense_Mutation_p.R128W	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	888					peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	CATATTTATTCGGTGGAAAAA	0.473000														24			56		0	0	0.000781405	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	143613	143613	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:143613C>T	uc003jak.2	+	2	788	c.738C>T	c.(736-738)atC>atT	p.I246I		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	246					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)		TCCATAGCATCCCCAGGTGGG	0.662000														27			6		0	0	0.000157383	0	0
SCN9A	6335	broad.mit.edu	37	2	167108350	167108351	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:167108350_167108351GG>TA	uc010fpl.3	-	17	3704_3705	c.3363_3364CC>TA	c.(3361-3366)aaccct>aaTAct	p.P1122T	BC051759_uc002udp.3_Non-coding_Transcript	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1133						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)	CCAGGCAAAGGGTTATCAACTG	0.450000														19			16		0	0	6.4e-05	0	0
CCDC144A	9720	broad.mit.edu	37	17	16612455	16612455	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:16612455C>T	uc002gqk.1	+	4	1160	c.1084C>T	c.(1084-1086)Cct>Tct	p.P362S	CCDC144A_uc002gql.1_Intron|CCDC144A_uc010cpj.1_5'Flank	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	362																	CGAGACATTTCCTGAACAAAA	0.378000														70			46		0	0	0.000781405	0	0
SCCPDH	51097	broad.mit.edu	37	1	246887838	246887838	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:246887838C>T	uc001ibr.3	+	0	461	c.114C>T	c.(112-114)tcC>tcT	p.S38S		NM_016002	NP_057086	Q8NBX0	SCPDH_HUMAN	Homo sapiens saccharopine dehydrogenase (putative) (SCCPDH), mRNA.	38				SSRLPWA -> TQPALG (in Ref. 1; AAD34044).		midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		AGCGGAGCTCCCGCCTGCCCT	0.736000														11			8		0	0	0.000274275	0	0
ERN2	10595	broad.mit.edu	37	16	23716310	23716310	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:23716310G>A	uc002dma.4	-	7	1061	c.892C>T	c.(892-894)Cga>Tga	p.R298*	ERN2_uc010bxp.3_Nonsense_Mutation_p.R298*|ERN2_uc010bxq.1_Nonsense_Mutation_p.R106*	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	250					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AGAGTGTCTCGAGCCAGCGTG	0.672000														49			7		0	0	8.12818e-05	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	67309	67309	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chrGL000209.1:67309G>A	uc002qud.4	+	5	964	c.891G>A	c.(889-891)atG>atA	p.M297I	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qtv.3_Missense_Mutation_p.E293K|KIR2DL2_uc010yic.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evd.3_Missense_Mutation_p.E337K|KIR2DL2_uc002quc.4_Missense_Mutation_p.M275I|KIR2DL2_uc002quh.4_Missense_Mutation_p.M184I|KIR2DL2_uc002que.4_Missense_Mutation_p.M262I|KIR2DL2_uc002quf.4_Missense_Mutation_p.M167I|KIR2DL2_uc010eve.3_Intron|KIR2DL2_uc002qug.4_Missense_Mutation_p.M240I|KIR2DL2_uc010evf.3_Non-coding_Transcript|KIR2DL2_uc010evg.1_5'Flank|KIR2DL2_uc010evh.1_5'Flank|KIR2DL2_uc002qui.2_5'Flank|KIR2DL2_uc021vdb.1_5'Flank|KIR2DL2_uc010yie.2_5'Flank	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.	277					regulation of immune response	integral to membrane|plasma membrane	receptor activity										CTGCTGTAATGAACCAAGAGC	0.512000														34			5		0	0	0.000274275	0	0
LDLR	3949	broad.mit.edu	37	19	11210922	11210922	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:11210922G>A	uc002mqk.4	+	1	278	c.91G>A	c.(91-93)Gag>Aag	p.E31K	LDLR_uc010xlk.2_Missense_Mutation_p.E31K|LDLR_uc010xll.2_Missense_Mutation_p.E31K|LDLR_uc021upc.1_Splice_Site_p.D31_splice|LDLR_uc010xln.2_Missense_Mutation_p.E31K|LDLR_uc010xlo.2_Missense_Mutation_p.E31K|LDLR_uc010xlm.2_Missense_Mutation_p.R5Q|LDLR_uc021upd.1_5'UTR	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	31	LDL-receptor class A 1.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.E31K(2)|p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CGAAAGAAACGAGTTCCAGTG	0.532000														164			45		0	0	0.000781405	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2307182	2307183	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:2307182_2307183GG>AA	uc003gex.2	-	7	1204_1205	c.884_885CC>TT	c.(883-885)ccc>cTT	p.P295L	ZFYVE28_uc011bvk.2_Missense_Mutation_p.P225L|ZFYVE28_uc011bvl.2_Missense_Mutation_p.P265L|ZFYVE28_uc003gew.2_Missense_Mutation_p.P181L	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	295					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CTGCGCGGATGGGGAACTCCAC	0.629000														39			8		0	0	6.4e-05	0	0
MYH8	4626	broad.mit.edu	37	17	10304912	10304912	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:10304912A>G	uc002gmm.2	-	22	2974	c.2879T>C	c.(2878-2880)cTt>cCt	p.L960P	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	960					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGTCAGCTCAAGGTCATCAAT	0.443000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					187			108		0	0	0.000781405	0	0
DEFB119	245932	broad.mit.edu	37	20	29965143	29965143	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:29965143G>A	uc002wvt.3	-	1	281	c.161C>T	c.(160-162)tCc>tTc	p.S54F	DEFB119_uc002wvs.3_3'UTR	NM_153289	NP_695021	Q8N690	DB119_HUMAN	Homo sapiens defensin, beta 119 (DEFB119), transcript variant 1, mRNA.	54					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GAGGCAGCAGGACTGACAATT	0.483000														99			118		0	0	0.000781405	0	0
UBC	7316	broad.mit.edu	37	17	21730947	21730947	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:21730947C>T	uc002gyy.3	+	1	374	c.249C>T	c.(247-249)acC>acT	p.T83T				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	235	Ubiquitin-like 2.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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 ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCGTGAAGACCCTGACCGGCA	0.552000														33			8		0	0	0.000151284	0	0
DMC1	11144	broad.mit.edu	37	22	38934573	38934573	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr22:38934573G>A	uc003avz.1	-	9	806	c.631C>T	c.(631-633)Cat>Tat	p.H211Y	DMC1_uc011anv.1_Missense_Mutation_p.H156Y	NM_007068	NP_008999	Q14565	DMC1_HUMAN	Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA.	211					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					GCTTCTTCATGGAACTTTGCT	0.353000								Homologous recombination						211			77		0	0	0.000781405	0	0
PDE4D	5144	broad.mit.edu	37	5	58289244	58289244	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:58289244G>A	uc003jsa.2	-	6	1142	c.970C>T	c.(970-972)Cgg>Tgg	p.R324W	PDE4D_uc003jrx.2_Missense_Mutation_p.R188W|PDE4D_uc003jry.3_Missense_Mutation_p.R22W|PDE4D_uc003jrz.3_Missense_Mutation_p.R260W|PDE4D_uc003jsb.3_Missense_Mutation_p.R263W|PDE4D_uc003jrt.2_Missense_Mutation_p.R22W|PDE4D_uc003jru.3_Missense_Mutation_p.R100W|PDE4D_uc003jrv.2_Missense_Mutation_p.R194W|PDE4D_uc003jrw.2_Missense_Mutation_p.R202W|PDE4D_uc010iwi.1_3'UTR|PDE4D_uc003jrs.2_Missense_Mutation_p.R33W	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN	Homo sapiens phosphodiesterase 4D, cAMP-specific (PDE4D), transcript variant 1, mRNA.	324					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	TTTCCAGACCGACTCATTTCA	0.318000														28			39		0	0	0.000781405	0	0
ANPEP	290	broad.mit.edu	37	15	90328627	90328627	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:90328627C>T	uc002bop.4	-	20	3149	c.2857G>A	c.(2857-2859)Gag>Aag	p.E953K		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	953	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			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)	TCCTTGTTCTCCTTCACCCAC	0.572000														108			16		0	0	0.00074312	0	0
GPR65	8477	broad.mit.edu	37	14	88478080	88478080	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:88478080G>A	uc021rxh.1	+	0	889	c.889G>A	c.(889-891)Gga>Aga	p.G297R	GPR65_uc001xvv.3_Missense_Mutation_p.G297R	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	297					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						AACCGAAACAGGAAGATATGA	0.348000														40			26		0	0	0.000878237	0	0
CHD4	1108	broad.mit.edu	37	12	6690874	6690874	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:6690874G>A	uc001qpo.3	-	30	4786	c.4622C>T	c.(4621-4623)cCt>cTt	p.P1541L	CHD4_uc001qpn.3_Missense_Mutation_p.P1534L|CHD4_uc001qpp.3_Missense_Mutation_p.P1566L|AK096395_uc001qpq.1_Intron|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	1541					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GGAGGGTGTAGGAGTTTTTGG	0.542000														54			65		0	0	0.000781405	0	0
SDK2	54549	broad.mit.edu	37	17	71346892	71346892	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:71346892G>A	uc010dfm.3	-	41	5796	c.5796C>T	c.(5794-5796)ttC>ttT	p.F1932F	SDK2_uc002jjt.4_Silent_p.F1072F	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1932					cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGACCACCAAGAACCACCACT	0.552000														59			23		0	0	0.00106085	0	0
MUC16	94025	broad.mit.edu	37	19	8995663	8995663	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:8995663C>T	uc002mkp.3	-	62	41529	c.41325G>A	c.(41323-41325)aaG>aaA	p.K13775K	MUC16_uc010dwi.3_Intron|MUC16_uc010dwj.3_Silent_p.K592K|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13777				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						AGGCTGGAGTCTTAGATGCTC	0.488000														18			5		0	0	0.000602214	0	0
VWF	7450	broad.mit.edu	37	12	6230478	6230478	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:6230478C>G	uc001qnn.1	-	2	332	c.82G>C	c.(82-84)Ggc>Cgc	p.G28R	VWF_uc010set.1_Missense_Mutation_p.G28R|VWF_uc001qno.1_Missense_Mutation_p.G65R	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	28					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)	GATGACCTGCCGCGAGTTCCT	0.572000														19			15		0	0	0.00074312	0	0
CD1E	913	broad.mit.edu	37	1	158325195	158325195	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:158325195C>T	uc001fse.3	+	2	754	c.461C>T	c.(460-462)tCc>tTc	p.S154F	CD1E_uc010pid.2_Missense_Mutation_p.S152F|CD1E_uc010pie.2_Missense_Mutation_p.S55F|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Missense_Mutation_p.S154F|CD1E_uc001fsf.3_Missense_Mutation_p.S154F|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Missense_Mutation_p.S55F|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Intron|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Missense_Mutation_p.S154F|CD1E_uc001frz.3_Intron|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	154					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CAAGGAATTTCCTGGGAGCCA	0.448000														114			21		0	0	0.000229342	0	0
FARS2	10667	broad.mit.edu	37	6	5431306	5431306	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:5431306C>T	uc010jnv.1	+	3	1141	c.805C>T	c.(805-807)Cct>Tct	p.P269S	FARS2_uc003mwr.2_Missense_Mutation_p.P269S	NM_006567	NP_006558	O95363	SYFM_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA.	269					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	p.P269H(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CTGCTACTTCCCTTTTACACA	0.428000														79			31		0	0	0.000491102	0	0
MAMDC4	158056	broad.mit.edu	37	9	139754341	139754341	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:139754341A>C	uc004cjs.3	+	25	3247	c.3197A>C	c.(3196-3198)aAc>aCc	p.N1066T	MAMDC4_uc011mej.2_Missense_Mutation_p.N403T	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	Homo sapiens MAM domain containing 4 (MAMDC4), mRNA.	1145	MAM 6.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCCACAGGGAACACAGCCGCA	0.652000														27			6		0	0	0.000157383	0	0
PTPN4	5775	broad.mit.edu	37	2	120702675	120702675	+	Silent	SNP	A	G	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:120702675A>G	uc002tmf.1	+	15	2145	c.1374A>G	c.(1372-1374)ggA>ggG	p.G458G	PTPN4_uc010flj.1_Silent_p.G171G|PTPN4_uc010yyr.1_Silent_p.G91G	NM_002830	NP_002821	P29074	PTN4_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) (PTPN4), mRNA.	458						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	AGACCCCTGGAGATGGGAAGC	0.363000														55			13		0	0	0.000219431	0	0
CHFR	55743	broad.mit.edu	37	12	133448935	133448935	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:133448935C>T	uc001ulf.2	-	3	363	c.279G>A	c.(277-279)caG>caA	p.Q93Q	CHFR_uc001ulc.1_Non-coding_Transcript|CHFR_uc001uld.2_Silent_p.Q93Q|CHFR_uc001ule.2_Silent_p.Q93Q|CHFR_uc010tbs.1_Silent_p.Q93Q|CHFR_uc010tbt.1_Silent_p.Q93Q	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	Homo sapiens checkpoint with forkhead and ring finger domains (CHFR), transcript variant 1, mRNA.	93					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		AAGGGCATGTCTGCTTCTTAA	0.428000														41			36		0	0	0.00148497	0	0
TACC2	10579	broad.mit.edu	37	10	123845037	123845037	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:123845037G>A	uc001lfv.3	+	3	3382	c.3022G>A	c.(3022-3024)Gaa>Aaa	p.E1008K	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.E1008K|TACC2_uc010qtv.2_Missense_Mutation_p.E1008K	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1008						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)				CAGCCAGCATGAAGAAGCATG	0.532000														21			9		0	0	0.000274275	0	0
THSD7B	80731	broad.mit.edu	37	2	137928475	137928475	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:137928475C>T	uc002tva.1	+	5	1597	c.1597C>T	c.(1597-1599)Cgt>Tgt	p.R533C	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.R423C	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)		CCTGGGACATCGTATTCTGAA	0.502000														24			7		0	0	0.000157383	0	0
KRT72	140807	broad.mit.edu	37	12	52994971	52994971	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:52994971G>A	uc001sar.2	-	0	352	c.266C>T	c.(265-267)cCc>cTc	p.P89L	KRT72_uc001saq.2_Missense_Mutation_p.P89L|KRT72_uc010sns.1_Missense_Mutation_p.P89L|KRT72_uc010snt.1_5'UTR	NM_001146225	NP_542785	Q14CN4	K2C72_HUMAN	Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA.	89	Gly-rich.|Head.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GCACACGGAGGGACACTTGGG	0.736000														12			5		0	0	0.00116845	0	0
CD96	10225	broad.mit.edu	37	3	111368615	111368615	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:111368615G>A	uc003dxw.3	+	14	1890	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K	CD96_uc003dxx.3_Missense_Mutation_p.E558K|CD96_uc010hpy.1_Missense_Mutation_p.E557K	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	574					cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AGAGCCCAACGAAAGTGATCT	0.463000									Opitz Trigonocephaly syndrome					72			13		0	0	0.000219431	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688745	26688745	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr22:26688745C>T	uc003acb.3	+	1	664	c.468C>T	c.(466-468)ctC>ctT	p.L156L	SEZ6L_uc003acd.3_Silent_p.L156L|SEZ6L_uc011akd.2_Silent_p.L156L|SEZ6L_uc003ace.3_Silent_p.L156L|SEZ6L_uc011akc.2_Silent_p.L156L|SEZ6L_uc003acc.3_Silent_p.L156L|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	156						endoplasmic reticulum membrane|integral to membrane		p.L156I(1)		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						GCCTAGATCTCCTCTCCTCCT	0.667000														33			12		0	0	0.00136819	0	0
SLC2A14	144195	broad.mit.edu	37	12	7970528	7970528	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:7970528C>T	uc010sgh.2	-	8	1309	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K	SLC2A14_uc001qtk.3_Missense_Mutation_p.E415K|SLC2A14_uc001qtl.3_Missense_Mutation_p.E392K|SLC2A14_uc001qtm.3_Missense_Mutation_p.E392K|SLC2A14_uc010sgg.2_Missense_Mutation_p.E306K|SLC2A14_uc001qtn.3_Missense_Mutation_p.E415K|SLC2A14_uc001qto.3_Missense_Mutation_p.E50K	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	415					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	p.A429A(1)|p.E415K(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CTGAAGAGTTCGGCCACAATA	0.557000														51			16		0	0	0.00074312	0	0
DCC	1630	broad.mit.edu	37	18	50985644	50985644	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr18:50985644G>A	uc002lfe.2	+	23	4051	c.3435G>A	c.(3433-3435)caG>caA	p.Q1145Q	DCC_uc010dpf.2_Silent_p.Q780Q	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1145					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)		AGGGCAGCCAGAAGGACCTCC	0.488000														15			25		0	0	0.00106085	0	0
LOC728819	728819	broad.mit.edu	37	2	43902632	43902632	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:43902632C>T	uc010fav.1	-	0	830	c.830G>A	c.(829-831)gGa>gAa	p.G277E	PLEKHH2_uc002rte.3_Intron|PLEKHH2_uc002rtf.3_Intron|PLEKHH2_uc010yny.2_Intron	NM_001101330	NP_001094800			Homo sapiens hCG1645220 (LOC728819), mRNA.														all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GGGGGTCAGTCCATTGAAAGT	0.433000														357			105		0	0	0.000781405	0	0
RAB30	27314	broad.mit.edu	37	11	82693213	82693213	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:82693213G>A	uc001ozu.3	-	5	867	c.606C>T	c.(604-606)ttC>ttT	p.F202F	RAB30_uc009yve.3_Silent_p.F200F|RAB30_uc010rst.2_Silent_p.F202F|RAB30_uc001ozv.3_3'UTR	NM_014488	NP_055303	Q15771	RAB30_HUMAN	Homo sapiens RAB30, member RAS oncogene family (RAB30), mRNA.	202					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GCCTTTAGTTGAAATTACAAC	0.493000														61			17		0	0	0.000958276	0	0
DEF8	54849	broad.mit.edu	37	16	90025448	90025448	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:90025448C>T	uc002fpn.2	+	5	715	c.582C>T	c.(580-582)atC>atT	p.I194I	DEF8_uc021tmu.1_Silent_p.I133I|DEF8_uc002fpl.3_Silent_p.I133I|DEF8_uc002fpm.3_Silent_p.I133I|DEF8_uc002fpo.2_Silent_p.I133I|DEF8_uc002fpp.2_Silent_p.I123I|DEF8_uc021tmv.1_Silent_p.I133I|DEF8_uc010vpq.2_Silent_p.I73I|DEF8_uc010vpr.2_Silent_p.I133I	NM_207514	NP_001229746	Q6ZN54	DEFI8_HUMAN	Homo sapiens differentially expressed in FDCP 8 homolog (mouse) (DEF8), transcript variant 1, mRNA.	194					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		AGCCAAACATCCGAGTGCTCC	0.557000														60			46		0	0	0.000781405	0	0
SDK1	221935	broad.mit.edu	37	7	4152923	4152923	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:4152923T>A	uc003smx.3	+	23	3576	c.3437T>A	c.(3436-3438)tTt>tAt	p.F1146Y	SDK1_uc010kso.3_Missense_Mutation_p.F422Y	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1146	Fibronectin type-III 5.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCCTTTAGATTTCGAATGAAG	0.537000														297			49		0	0	0.000781405	0	0
KIAA0317	9870	broad.mit.edu	37	14	75142432	75142433	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:75142432_75142433CG>AT	uc001xqb.3	-	7	1554_1555	c.1049_1050CG>AT	c.(1048-1050)ccg>cAT	p.P350H	KIAA0317_uc010tut.1_Missense_Mutation_p.P189H	NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	350					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)		ACACCTTCTTCGGTTTCTTCAC	0.510000														364			9		0	0	6.4e-05	0	0
RIPK3	11035	broad.mit.edu	37	14	24806441	24806441	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:24806441C>T	uc001wpb.3	-	7	1336	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K	ADCY4_uc001wow.3_5'Flank|ADCY4_uc010toh.2_5'Flank|ADCY4_uc001wox.3_5'Flank|ADCY4_uc001woy.3_5'Flank|ADCY4_uc001woz.4_5'Flank|RIPK3_uc001wpa.3_Missense_Mutation_p.E176K|RIPK3_uc010alq.3_Non-coding_Transcript|RIPK3_uc010toi.2_Missense_Mutation_p.E155K	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 3 (RIPK3), mRNA.	376					apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		ACCTGCTCCTCTTGTGCCCTG	0.522000														82			43		0	0	0.000781405	0	0
ADH7	131	broad.mit.edu	37	4	100349080	100349080	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:100349080G>C	uc003huv.2	-	4	691	c.450C>G	c.(448-450)caC>caG	p.H150Q	ADH7_uc021xqj.1_Missense_Mutation_p.H158Q	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	150				HH -> GR (in Ref. 11; AA sequence).	ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	TCATGAAGTGGTGGACTGGTT	0.418000														103			17		0	0	0.00121646	0	0
NDST4	64579	broad.mit.edu	37	4	115856431	115856431	+	Silent	SNP	T	G	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:115856431T>G	uc003ibu.3	-	5	2146	c.1467A>C	c.(1465-1467)ccA>ccC	p.P489P	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	489	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)		GGGGTCCTCCTGGATATTCTT	0.403000														64			12		0	0	0.000308642	0	0
LDB2	9079	broad.mit.edu	37	4	16504347	16504347	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:16504347C>T	uc003goz.3	-	7	1357	c.1041G>A	c.(1039-1041)ggG>ggA	p.G347G	LDB2_uc003gpa.3_3'UTR|LDB2_uc011bxh.2_Silent_p.G319G|LDB2_uc003gpb.3_Silent_p.G345G|LDB2_uc010iee.3_3'UTR|LDB2_uc011bxi.2_3'UTR	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	347							LIM domain binding|transcription cofactor activity	p.L346L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GGCTGTTGTTCCCCAGCGCGG	0.527000														143			41		0	0	0.00148497	0	0
INPP5D	3635	broad.mit.edu	37	2	234102595	234102595	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:234102595G>A	uc010zmo.2	+	21	2650	c.2497G>A	c.(2497-2499)Gag>Aag	p.E833K	INPP5D_uc010zmp.2_Missense_Mutation_p.E832K	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	862					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)		CAAGACGAGGGAGAAGCTCTA	0.592000														15			7		0	0	0.000157383	0	0
APLP1	333	broad.mit.edu	37	19	36369521	36369521	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:36369521G>A	uc002oce.3	+	13	1750	c.1612G>A	c.(1612-1614)Gag>Aag	p.E538K	APLP1_uc010xsz.2_Missense_Mutation_p.E499K|APLP1_uc002ocf.3_Missense_Mutation_p.E539K|APLP1_uc002ocg.3_Missense_Mutation_p.E442K|APLP1_uc010xta.2_Missense_Mutation_p.E532K	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	538					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCTGAGAAAGAGAAGATGAA	0.488000														32			5		0	0	0.00116845	0	0
GRIN3A	116443	broad.mit.edu	37	9	104448967	104448967	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:104448967C>T	uc004bbp.2	-	1	1816	c.1215G>A	c.(1213-1215)atG>atA	p.M405I	GRIN3A_uc004bbq.1_Missense_Mutation_p.M405I	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	405					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)	CTGGTTGGATCATGGTGGCTG	0.463000														20			53		0	0	0.000781405	0	0
MYH3	4621	broad.mit.edu	37	17	10532921	10532921	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:10532921G>A	uc002gmq.2	-	39	5877	c.5789C>T	c.(5788-5790)tCc>tTc	p.S1930F		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1930					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CACCCTGCTGGAGGTGAAGTC	0.562000														55			19		0	0	0.000229342	0	0
ARMC3	219681	broad.mit.edu	37	10	23250819	23250819	+	Nonsense_Mutation	SNP	C	T	T	rs78062147		TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:23250819C>T	uc001irm.4	+	6	627	c.544C>T	c.(544-546)Cag>Tag	p.Q182*	ARMC3_uc010qcv.2_Nonsense_Mutation_p.Q182*|ARMC3_uc010qcw.2_Intron	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	182							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCAGGATTTTCAGTGTCGAGC	0.333000														22			10		0	0	0.00136819	0	0
KCNH2	3757	broad.mit.edu	37	7	150649877	150649877	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:150649877C>T	uc003wic.3	-	5	1594	c.1193G>A	c.(1192-1194)tGg>tAg	p.W398*	KCNH2_uc003wib.3_Nonsense_Mutation_p.W58*|KCNH2_uc011kux.2_Nonsense_Mutation_p.W302*|KCNH2_uc003wid.3_Nonsense_Mutation_p.W58*|KCNH2_uc003wie.3_Nonsense_Mutation_p.W398*	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	398					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	p.W398*(3)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CAGGATGGTCCAGCGGTGGAT	0.647000														55			39		0	0	0.000509022	0	0
ZRANB3	84083	broad.mit.edu	37	2	135982014	135982014	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:135982014C>T	uc002tum.3	-	14	2349	c.2232G>A	c.(2230-2232)cgG>cgA	p.R744R	ZRANB3_uc002tuk.3_Silent_p.R287R|ZRANB3_uc002tul.3_Silent_p.R742R	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.	744						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		AGATGTGAATCCGGTCAGTAT	0.358000														38			14		0	0	0.000422831	0	0
OR7D4	125958	broad.mit.edu	37	19	9325330	9325330	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:9325330A>G	uc002mla.2	-	0	218	c.184T>C	c.(184-186)Ttc>Ctc	p.F62L		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TTGGAGAGGAAGAAGTACATG	0.542000														41			13		0	0	0.000219431	0	0
APRT	353	broad.mit.edu	37	16	88876893	88876893	+	Missense_Mutation	SNP	G	C	C	rs3169258		TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:88876893G>C	uc002flv.3	-	2	294	c.259C>G	c.(259-261)Cga>Gga	p.R87G	APRT_uc002flw.3_Missense_Mutation_p.R87G	NM_000485	NP_000476	P07741	APT_HUMAN	Homo sapiens adenine phosphoribosyltransferase (APRT), transcript variant 1, mRNA.	87					purine ribonucleoside salvage	cytosol|nucleus	AMP binding|adenine phosphoribosyltransferase activity|protein binding			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CCCCGCTTTCGGATGAGCACG	0.647000														15			10		0	0	0.000673444	0	0
BCKDHB	594	broad.mit.edu	37	6	81053415	81053415	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:81053415C>T	uc003pjd.2	+	9	1140	c.1073C>T	c.(1072-1074)tCa>tTa	p.S358L	BCKDHB_uc003pje.2_Missense_Mutation_p.S358L	NM_000056	NP_898871	P21953	ODBB_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	358					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		GCTCCTATATCAAGAGTATGT	0.378000														44			16		0	0	0.000308642	0	0
MUC16	94025	broad.mit.edu	37	19	9084523	9084523	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:9084523G>A	uc002mkp.3	-	0	7496	c.7292C>T	c.(7291-7293)tCc>tTc	p.S2431F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2431	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						GGTGTTACTGGAAACAGATGG	0.512000														18			17		0	0	0.00121646	0	0
ASAH2	56624	broad.mit.edu	37	10	52002964	52002964	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:52002964C>T	uc001jjd.3	-	2	508	c.508G>A	c.(508-510)Gag>Aag	p.E170K	ASAH2_uc009xos.3_Missense_Mutation_p.E170K	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN	Homo sapiens N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 (ASAH2), transcript variant 1, mRNA.	170					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						TCACTTACCTCCAGCCTGAGC	0.428000														73			21		0	0	0.000229342	0	0
TEKT1	83659	broad.mit.edu	37	17	6716370	6716370	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:6716370G>A	uc002gdt.3	-	5	742	c.632C>T	c.(631-633)tCc>tTc	p.S211F	TEKT1_uc010vth.2_Missense_Mutation_p.S65F	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	Homo sapiens tektin 1 (TEKT1), mRNA.	211					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CAGACTCACGGAGCTGAAACA	0.547000														23			13		0	0	0.000308642	0	0
COL4A5	1287	broad.mit.edu	37	X	107829912	107829912	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chrX:107829912C>T	uc022ccg.1	+	18	1302	c.1100C>T	c.(1099-1101)cCt>cTt	p.P367L	COL4A5_uc004enz.1_Missense_Mutation_p.P367L|COL4A5_uc004eob.1_5'UTR	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	367	Triple-helical region.		Missing (in APSX; juvenile type).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCTGGGTTGCCTGGAGAAAAA	0.413000									Alport syndrome with Diffuse Leiomyomatosis					27			43		0	0	0.000509022	0	0
PRLR	5618	broad.mit.edu	37	5	35072715	35072715	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:35072715C>T	uc003jjm.3	-	5	1064	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	PRLR_uc003jjk.1_Missense_Mutation_p.E98K|PRLR_uc003jjg.2_Missense_Mutation_p.E169K|PRLR_uc003jjh.2_Missense_Mutation_p.E169K|PRLR_uc003jji.2_Missense_Mutation_p.E98K|PRLR_uc003jjj.2_Missense_Mutation_p.E169K|PRLR_uc003jjl.4_Missense_Mutation_p.E68K|PRLR_uc021xxl.1_Missense_Mutation_p.E169K|PRLR_uc010iuw.1_Missense_Mutation_p.E98K	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	169	Fibronectin type-III 2.				T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AATCGAATTTCATACAGGAGC	0.443000														58			14		0	0	0.000422831	0	0
ESYT3	83850	broad.mit.edu	37	3	138179482	138179482	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:138179482C>T	uc003esk.3	+	6	994	c.768C>T	c.(766-768)acC>acT	p.T256T	ESYT3_uc010hug.2_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	256						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CTGGCCTGACCAACCTGCTGG	0.602000														136			41		0	0	0.000680045	0	0
VHL	7428	broad.mit.edu	37	3	10188264	10188264	+	Missense_Mutation	SNP	T	A	A	rs5030833		TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:10188264T>A	uc003bvc.3	+	1	620	c.407T>A	c.(406-408)tTt>tAt	p.F136Y	VHL_uc003bvd.3_Intron	NM_000551	NP_000542	P40337	VHL_HUMAN	Homo sapiens von Hippel-Lindau tumor suppressor (VHL), transcript variant 1, mRNA.	136	Involved in binding to CCT complex.		F -> C (in pheochromocytoma and VHLD; type II; dbSNP:rs5030833).|F -> S (in VHLD).|F -> Y (in VHLD).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.F136fs*23(8)|p.L135fs*24(6)|p.F136V(4)|p.F136S(4)|p.F136fs*8(3)|p.F136C(2)|p.L135*(2)|p.F136del(2)|p.L135fs*7(2)|p.F136Y(2)|p.L135fs*9(2)|p.L135F(1)|p.F136I(1)|p.?fs(1)|p.F136L(1)|p.N131fs*7(1)|p.E134fs*7(1)|p.V137fs*7(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ACTGAATTATTTGTGCCATCT	0.428000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia					76			38		0	0	0.00170553	0	0
STARD13	90627	broad.mit.edu	37	13	33700324	33700324	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr13:33700324G>A	uc001uuw.3	-	6	2102	c.1976C>T	c.(1975-1977)gCt>gTt	p.A659V	STARD13_uc001uuu.3_Missense_Mutation_p.A651V|STARD13_uc001uuv.3_Missense_Mutation_p.A541V|STARD13_uc001uux.3_Missense_Mutation_p.A624V|STARD13_uc021rhz.1_Missense_Mutation_p.A651V|STARD13_uc021ria.1_Missense_Mutation_p.A541V	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	659					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GCCAAAGACAGCCTTGTCTTT	0.493000														84			70		0	0	0.000781405	0	0
KCNG4	93107	broad.mit.edu	37	16	84256488	84256488	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:84256488C>T	uc010voc.2	-	2	1016	c.895G>A	c.(895-897)Gac>Aac	p.D299N		NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	299						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GCCAGGATGTCGATGATGTTC	0.627000														12			6		0	0	0.000442599	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157408	26157408	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chrX:26157408G>A	uc022bub.1	+	0	306	c.306G>A	c.(304-306)tgG>tgA	p.W102*	MAGEB18_uc004dbq.2_Nonsense_Mutation_p.W102*	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	102							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						CTGAGGGCTGGAAAGAAGATC	0.433000														4			10		0	0	0.000442599	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64536712	64536712	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:64536712G>A	uc003dmg.3	-	30	4757	c.4725C>T	c.(4723-4725)tcC>tcT	p.S1575S	ADAMTS9_uc011bfo.2_Silent_p.S1547S|ADAMTS9_uc003dmh.1_Silent_p.S1404S|ADAMTS9_uc011bfp.1_Silent_p.S486S	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1575	TSP type-1 13.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGCGGTACCTGGAGCCTTCGC	0.488000														157			66		0	0	0.000781405	0	0
GRM3	2913	broad.mit.edu	37	7	86394591	86394591	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:86394591C>T	uc003uid.3	+	1	1229	c.130C>T	c.(130-132)Ctg>Ttg	p.L44L	GRM3_uc010lef.3_Silent_p.L42L|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	44					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)	TTTAGGGGGCCTGTTTCCTAT	0.413000														95			43		0	0	0.00148497	0	0
TBC1D4	9882	broad.mit.edu	37	13	75861125	75861125	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr13:75861125G>A	uc001vjl.1	-	20	4047	c.3700C>T	c.(3700-3702)Ctg>Ttg	p.L1234L	TBC1D4_uc010tht.1_Silent_p.L444L|TBC1D4_uc010thu.1_Silent_p.L391L|TBC1D4_uc010aer.2_Silent_p.L1226L|TBC1D4_uc010aes.2_Silent_p.L1171L	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	1234						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AGATTTTCCAGGTTTGATTCC	0.408000														90			20		0	0	0.000375601	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457651	110457651	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:110457651C>T	uc003yne.3	+	37	5657	c.5553C>T	c.(5551-5553)atC>atT	p.I1851I		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1851	IPT/TIG 11.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CACTGGTGATCACAGGAAATG	0.488000										HNSCC(38;0.096)				23			8		0	0	0.000442599	0	0
CPNE5	57699	broad.mit.edu	37	6	36762372	36762372	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:36762372G>A	uc003omr.1	-	6	526	c.459C>T	c.(457-459)tcC>tcT	p.S153S	CPNE5_uc003oms.1_Silent_p.S115S	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	153	C2 2.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CGTACCCGTTGGACACAGCTG	0.592000														8			12		0	0	0.00136819	0	0
PCDHB18	54660	broad.mit.edu	37	5	140616448	140616448	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:140616448C>T	uc003ljc.1	+	0	2511	c.2163C>T	c.(2161-2163)ctC>ctT	p.L721L						Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.											endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						TTCCCAATCTCCTGTCCCGCG	0.517000														10			18		0	0	0.00074312	0	0
SOAT1	6646	broad.mit.edu	37	1	179316752	179316752	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:179316752C>T	uc001gml.3	+	11	1366	c.1135C>T	c.(1135-1137)Ctt>Ttt	p.L379F	SOAT1_uc010pni.2_Missense_Mutation_p.L314F|SOAT1_uc001gmm.3_Missense_Mutation_p.L321F|SOAT1_uc010pnj.2_Missense_Mutation_p.L115F|SOAT1_uc010pnk.2_Missense_Mutation_p.L314F	NM_003101	NP_003092	P35610	SOAT1_HUMAN	Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	379					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GATTCTCTTCCTTACTTTTTT	0.333000														55			42		0	0	0.000509022	0	0
SEMA6C	10500	broad.mit.edu	37	1	151109048	151109048	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:151109048C>A	uc001ewv.3	-	11	1318	c.982G>T	c.(982-984)Ggc>Tgc	p.G328C	SEMA6C_uc001ewu.3_Missense_Mutation_p.G328C|SEMA6C_uc001eww.3_Missense_Mutation_p.G288C	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	328	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	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;0.211)			ACGGCAGAGCCAGGGATGCTG	0.552000														164			23		1.64293e-13	1.1097e-12	0.00047179	1	0
ZNF835	90485	broad.mit.edu	37	19	57175219	57175219	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:57175219C>T	uc010ygn.2	-	1	1575	c.1348G>A	c.(1348-1350)Gag>Aag	p.E450K		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.									p.S450R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TTGCCGCACTCGGGGCAGGTG	0.677000														26			8		0	0	0.000274275	0	0
MARCO	8685	broad.mit.edu	37	2	119729107	119729107	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:119729107C>T	uc002tln.1	+	3	589	c.457C>T	c.(457-459)Cca>Tca	p.P153S	MARCO_uc010yyf.1_Missense_Mutation_p.P75S	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	153	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						ACAAGGCGCCCCAGGTAGGTT	0.582000														60			15		0	0	0.000958276	0	0
WSCD2	9671	broad.mit.edu	37	12	108589750	108589750	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:108589750G>A	uc001tms.3	+	1	885	c.141G>A	c.(139-141)ggG>ggA	p.G47G	WSCD2_uc001tmt.3_Silent_p.G47G	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	47						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CTGTCTCGGGGAACCAGGCGA	0.612000														68			54		0	0	0.000781405	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	160183	160183	+	RNA	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chrGL000192.1:160183C>T	uc010yih.1	-	11		c.2239G>A						Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCGTCGGGCTCATGGGGAGCT	0.642000														24			5		0	0	0.000602214	0	0
IKBKE	9641	broad.mit.edu	37	1	206653840	206653840	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:206653840C>T	uc001hdz.2	+	12	1969	c.1391C>T	c.(1390-1392)tCc>tTc	p.S464F	IKBKE_uc001hea.2_Missense_Mutation_p.S379F|IKBKE_uc009xbv.2_Missense_Mutation_p.S464F	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	464					DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GCAAGGACATCCCTCCTCTAC	0.617000														12			9		0	0	0.000274275	0	0
ZNF337	26152	broad.mit.edu	37	20	25656459	25656459	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:25656459C>T	uc002wva.3	-	3	1987	c.1465G>A	c.(1465-1467)Gga>Aga	p.G489R	ZNF337_uc002wuz.3_Non-coding_Transcript|ZNF337_uc010ztg.2_Missense_Mutation_p.G457R|ZNF337_uc002wvc.3_Missense_Mutation_p.G489R	NM_015655	NP_056470			Homo sapiens zinc finger protein 337 (ZNF337), mRNA.											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCCCGACATCCATAAGGCTTC	0.498000														105			35		0	0	0.000491102	0	0
PIWIL4	143689	broad.mit.edu	37	11	94318641	94318641	+	Silent	SNP	T	C	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:94318641T>C	uc001pfa.3	+	5	877	c.666T>C	c.(664-666)atT>atC	p.I222I	PIWIL4_uc010rue.1_Non-coding_Transcript|PIWIL4_uc009ywk.2_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.	222					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGTACCAAATTGGACGGAACT	0.333000														120			30		0	0	0.00058488	0	0
DHX30	22907	broad.mit.edu	37	3	47882444	47882444	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:47882444C>T	uc003cru.3	+	6	870	c.444C>T	c.(442-444)tcC>tcT	p.S148S	DHX30_uc003crs.2_Silent_p.S109S|DHX30_uc003crt.3_Silent_p.S109S|DHX30_uc010hjr.1_Silent_p.S176S	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	148						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding	p.G147C(2)		endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GCTTTGGCTCCCCTGCCGACA	0.602000														17			7		0	0	0.000157383	0	0
NMBR	4829	broad.mit.edu	37	6	142409748	142409749	+	Missense_Mutation	DNP	AT	TG	TG			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:142409748_142409749AT>TG	uc003qiu.3	-	0	188_189	c.47_48AT>CA	c.(46-48)aat>aCA	p.N16T		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	16					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)		AACCGCTCTCATTCGCGCCGGT	0.619000														15			6		0	0	6.4e-05	0	0
NEGR1	257194	broad.mit.edu	37	1	72163761	72163761	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:72163761C>T	uc001dfw.3	-	3	825	c.597G>A	c.(595-597)ggG>ggA	p.G199G	NEGR1_uc001dfv.3_Silent_p.G71G|NEGR1_uc010oqs.2_Intron	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA.	199	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		ATTCATATTCCCCAGCCTGGT	0.368000														21			28		0	0	0.00127121	0	0
PCLO	27445	broad.mit.edu	37	7	82581603	82581603	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:82581603G>A	uc003uhx.2	-	4	8955	c.8666C>T	c.(8665-8667)tCc>tTc	p.S2889F	PCLO_uc003uhv.2_Missense_Mutation_p.S2889F|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2820					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						GATTCCCTGGGATACGGTGCT	0.463000														111			49		0	0	0.000781405	0	0
LOC200726	200726	broad.mit.edu	37	2	207509006	207509006	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:207509006T>C	uc010fuh.1	+	1	221	c.46T>C	c.(46-48)Ttc>Ctc	p.F16L		NM_001102659	NP_001096129			Homo sapiens hCG1657980 (LOC200726), mRNA.																LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.115)|Lung(261;0.133)		CCCCTTGAGCTTCACCTGCTC	0.527000														15			7		0	0	0.000157383	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318722	30318722	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:30318722C>T	uc009xle.2	-	2	492	c.355G>A	c.(355-357)Gga>Aga	p.G119R	KIAA1462_uc001iux.3_Missense_Mutation_p.G119R|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_5'UTR	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	119										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						TCTTGCCGTCCTCTTCTCCGG	0.577000														41			13		0	0	0.00136819	0	0
CYP2C19	1557	broad.mit.edu	37	10	96612527	96612527	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:96612527G>A	uc010qnz.2	+	8	1329	c.1329G>A	c.(1327-1329)atG>atA	p.M443I	CYP2C19_uc010qny.2_Missense_Mutation_p.M421I	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	443					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.R442H(2)|p.R442L(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)	TGGCCCGCATGGAGCTGTTTT	0.428000														52			8		0	0	0.000442599	0	0
ITGAL	3683	broad.mit.edu	37	16	30507776	30507776	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:30507776T>A	uc002dyi.4	+	14	1897	c.1721T>A	c.(1720-1722)gTg>gAg	p.V574E	ITGAL_uc002dyj.4_Missense_Mutation_p.V491E|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.	574					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)	GGGACCCAAGTGCTCTCAGGA	0.572000														54			14		0	0	0.00121646	0	0
PSG9	5678	broad.mit.edu	37	19	43762487	43762487	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:43762487C>T	uc002owd.4	-	4	1209	c.1110G>A	c.(1108-1110)ggG>ggA	p.G370G	PSG9_uc002owe.4_Silent_p.G277G|PSG9_uc010xwm.2_Silent_p.G277G|PSG9_uc002owf.4_Silent_p.G184G|PSG9_uc002owg.2_Silent_p.G277G	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	370	Ig-like C2-type 3.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GCTGAAACTTCCCATTAATTG	0.443000														128			91		0	0	0.000781405	0	0
STAB1	23166	broad.mit.edu	37	3	52556577	52556577	+	Missense_Mutation	SNP	G	A	A	rs148752341		TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:52556577G>A	uc003dej.3	+	60	6691	c.6617G>A	c.(6616-6618)cGg>cAg	p.R2206Q	STAB1_uc003dek.1_Missense_Mutation_p.R221Q|STAB1_uc003del.3_Missense_Mutation_p.R93Q	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	2206	Link.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCAGAGAAACGGGCTGGCGTT	0.612000														47			13		0	0	0.00074312	0	0
abParts	0	broad.mit.edu	37	2	90139107	90139107	+	RNA	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:90139107G>A	uc010yts.2	+	29		c.3290G>A								Parts of antibodies, mostly variable regions.																		GACACAGCATGGACATGAGGG	0.537000														136			19		0	0	0.00152264	0	0
THAP5	168451	broad.mit.edu	37	7	108205132	108205132	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:108205132G>A	uc003vfm.3	-	2	845	c.691C>T	c.(691-693)Cat>Tat	p.H231Y	THAP5_uc003vfl.3_Missense_Mutation_p.H189Y	NM_001130475	NP_872335	Q7Z6K1	THAP5_HUMAN	Homo sapiens THAP domain containing 5 (THAP5), transcript variant 1, mRNA.	231					cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						TTAGCAAGATGACTGGTAGTT	0.308000														57			40		0	0	0.00170553	0	0
MORN5	254956	broad.mit.edu	37	9	124936831	124936831	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:124936831G>A	uc011lyn.2	+	3	426	c.364G>A	c.(364-366)Gat>Aat	p.D122N	MORN5_uc011lyo.1_Silent_p.T84T|MORN5_uc004blw.2_Missense_Mutation_p.D122N	NM_198469	NP_940871	Q5VZ52	MORN5_HUMAN	Homo sapiens MORN repeat containing 5 (MORN5), mRNA.	122								p.Y121Y(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						GGGCTATTACGATTGTGGAGA	0.463000														56			12		0	0	0.000978159	0	0
LOC220729	220729	broad.mit.edu	37	3	197348629	197348629	+	RNA	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:197348629G>A	uc011bug.2	-	3		c.462C>T			LOC220729_uc003fxy.3_Non-coding_Transcript|LOC220729_uc010iao.2_Intron					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) pseudogene (LOC220729), non-coding RNA.																		CCACACAGCAGCACCGATGGG	0.562000														28			5		0	0	0.000602214	0	0
TRRAP	8295	broad.mit.edu	37	7	98601834	98601834	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:98601834G>C	uc003upp.3	+	66	10498	c.10289G>C	c.(10288-10290)gGa>gCa	p.G3430A	TRRAP_uc011kis.2_Missense_Mutation_p.G3401A|TRRAP_uc003upr.3_Missense_Mutation_p.G3136A	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3430					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)			AGCGTTCCAGGATCCATGAAG	0.383000														194			19		0	0	0.00152264	0	0
KIF21B	23046	broad.mit.edu	37	1	200972894	200972894	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:200972894G>A	uc001gvs.2	-	7	1349	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	KIF21B_uc009wzl.2_Silent_p.I344I|KIF21B_uc001gvr.2_Silent_p.I344I|KIF21B_uc010ppn.2_Silent_p.I344I|KIF21B_uc001gvt.1_Silent_p.I202I	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	344					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						TCACACAGGCGATCATGATGG	0.567000														56			12		0	0	0.000151284	0	0
MUC16	94025	broad.mit.edu	37	19	9060353	9060353	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:9060353C>T	uc002mkp.3	-	2	27297	c.27093G>A	c.(27091-27093)acG>acA	p.T9031T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9033	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						AGTCCTCAATCGTGGCACTAG	0.542000														28			26		0	0	0.000586117	0	0
LIFR	3977	broad.mit.edu	37	5	38482087	38482087	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:38482087C>T	uc010ive.1	-	19	3236	c.2904G>A	c.(2902-2904)ggG>ggA	p.G968G	LIFR_uc003jli.2_Silent_p.G968G	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	968					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CCTGTGCAGTCCCTCCAGCTT	0.468000			T	PLAG1	salivary adenoma									120			38		0	0	0.00170553	0	0
COL10A1	1300	broad.mit.edu	37	6	116442962	116442962	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:116442962C>T	uc003pwm.3	-	2	413	c.317G>A	c.(316-318)gGg>gAg	p.G106E	NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA.	106	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		ACCTGGTTTCCCTACAGCTGA	0.602000														25			5		0	0	8.12818e-05	0	0
DNAJC22	79962	broad.mit.edu	37	12	49742682	49742682	+	Silent	SNP	T	C	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:49742682T>C	uc001rua.3	+	1	428	c.27T>C	c.(25-27)taT>taC	p.Y9Y	DNAJC22_uc001rub.3_Silent_p.Y9Y	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 22 (DNAJC22), mRNA.	9					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						TGGTGACCTATGCCCTCTGGG	0.642000														51			13		0	0	0.000422831	0	0
UPB1	51733	broad.mit.edu	37	22	24916425	24916425	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr22:24916425C>T	uc003aaf.3	+	6	2157	c.862C>T	c.(862-864)Cga>Tga	p.R288*	UPB1_uc003aae.3_Nonsense_Mutation_p.R220*|UPB1_uc021wnh.1_Non-coding_Transcript	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	Homo sapiens ureidopropionase, beta (UPB1), mRNA.	288	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					CGCCATCAATCGAGTGGGCAC	0.602000														11			4		0	0	0.00024832	0	0
KIF13A	63971	broad.mit.edu	37	6	17834269	17834269	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:17834269C>T	uc003ncg.4	-	11	1349	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	KIF13A_uc003ncf.3_Missense_Mutation_p.E397K|KIF13A_uc003nch.4_Missense_Mutation_p.E397K|KIF13A_uc003nci.4_Missense_Mutation_p.E397K|KIF13A_uc003ncj.3_Missense_Mutation_p.E73K	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	397					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	p.L396L(1)		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)			TCAGACTCTTCGAGCTTCTCC	0.383000														26			7		0	0	0.000274275	0	0
OBSCN	84033	broad.mit.edu	37	1	228559341	228559341	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:228559341C>T	uc009xez.1	+	93	20906	c.20862C>T	c.(20860-20862)acC>acT	p.T6954T	OBSCN_uc001hsr.1_Silent_p.T1583T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6954					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)				CCTCTGGCACCCACTTGGCCC	0.701000														10			7		0	0	0.000157383	0	0
WNK3	65267	broad.mit.edu	37	X	54263821	54263821	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chrX:54263821G>A	uc004dtc.2	-	19	4617	c.4178C>T	c.(4177-4179)tCg>tTg	p.S1393L	WNK3_uc004dtd.2_Missense_Mutation_p.S1346L	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	1346					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	p.S1393*(2)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ATAAGAAAACGAAGTTTTTGG	0.378000														8			50		0	0	0.000781405	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436352	72436352	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:72436352G>A	uc002jkp.3	+	1	1083	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	GPRC5C_uc002jkq.3_Intron|GPRC5C_uc002jkr.3_Missense_Mutation_p.R158Q|GPRC5C_uc002jkt.3_Missense_Mutation_p.R146Q|GPRC5C_uc002jku.3_5'Flank	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA.	146						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						TTCCTGGCCCGGAAGAACCAC	0.587000														59			38		0	0	0.000437636	0	0
MUC20	200958	broad.mit.edu	37	3	195453370	195453370	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:195453370G>A	uc010hzo.3	+	2	1509	c.1383G>A	c.(1381-1383)gcG>gcA	p.A461A	MUC20_uc010hzp.3_Silent_p.A426A|MUC20_uc011bte.1_Non-coding_Transcript	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Homo sapiens mucin 20, cell surface associated (MUC20), transcript variant L, mRNA.	632	Involved in oligomerization.				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		p.A632A(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CAACCTCAGCGAAGACCACGA	0.612000														92			12		0	0	0.000978159	0	0
NLRP12	91662	broad.mit.edu	37	19	54314203	54314204	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:54314203_54314204CC>AT	uc002qcj.4	-	2	929_930	c.709_710GG>AT	c.(709-711)ggg>ATg	p.G237M	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.G237M|NLRP12_uc002qci.4_Missense_Mutation_p.G237M|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.G237M	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	237	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GAAGAGCTTCCCGTCCGCCCAG	0.584000														28			12		0	0	6.4e-05	0	0
EVI5L	115704	broad.mit.edu	37	19	7913942	7913942	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:7913942C>T	uc010xjz.2	+	2	510	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	EVI5L_uc002min.3_Missense_Mutation_p.R155C|EVI5L_uc002mio.1_5'Flank	NM_001159944	NP_001153416	Q96CN4	EVI5L_HUMAN	Homo sapiens ecotropic viral integration site 5-like (EVI5L), transcript variant 1, mRNA.	155	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|protein binding			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GAAGCTGATCCGCAGGGACAT	0.617000														7			7		0	0	8.12818e-05	0	0
ENG	2022	broad.mit.edu	37	9	130587562	130587562	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:130587562C>T	uc004bsj.4	-	5	1177	c.764G>A	c.(763-765)gGt>gAt	p.G255D	ENG_uc011mam.2_Missense_Mutation_p.G66D|ENG_uc004bsk.4_Missense_Mutation_p.G255D	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	Homo sapiens endoglin (ENG), transcript variant 1, mRNA.	255					BMP signaling pathway|artery morphogenesis|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GTAGGGGGGACCCTGCAGGAT	0.632000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia					14			15		0	0	0.000566183	0	0
TTC37	9652	broad.mit.edu	37	5	94842677	94842678	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:94842677_94842678GT>AA	uc003klb.3	-	29	3349_3350	c.3052_3053AC>TT	c.(3052-3054)act>TTt	p.T1018F		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	1018							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AACATTGTAAGTATCTTGGTCT	0.312000														31			37		0	0	6.4e-05	0	0
IQCA1	79781	broad.mit.edu	37	2	237233337	237233337	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:237233337C>T	uc002vwb.2	-	18	2521	c.2487G>A	c.(2485-2487)agG>agA	p.R829R	IQCA1_uc002vvz.1_Silent_p.R821R|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Silent_p.R780R	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	821							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						tcttttatttccttttccctt	0.428000														15			4		0	0	0.00024832	0	0
IRX1	79192	broad.mit.edu	37	5	3599467	3599467	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:3599467C>T	uc003jde.3	+	1	457	c.405C>T	c.(403-405)acC>acT	p.T135T		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	135						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						AGAACGCCACCCGCGAGAGCA	0.652000														24			16		0	0	0.000566183	0	0
KCNC4	3749	broad.mit.edu	37	1	110765757	110765757	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:110765757A>G	uc009wfr.3	+	1	1636	c.850A>G	c.(850-852)Atc>Gtc	p.I284V	KCNC4_uc001dzf.3_Missense_Mutation_p.I284V|KCNC4_uc001dzh.3_Missense_Mutation_p.I284V|KCNC4_uc001dzi.3_Non-coding_Transcript|KCNC4_uc001dzg.3_Missense_Mutation_p.I284V	NM_001039574	NP_001034663	Q03721	KCNC4_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA.	284					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)		CCTGACCTACATCGAGGGCGT	0.567000														36			35		0	0	0.000589545	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356631	37356631	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:37356631C>T	uc002xjc.3	+	1	1190	c.927C>T	c.(925-927)tcC>tcT	p.S309S		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	309					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TCCCCATCTCCATTGGCATCA	0.537000														45			18		0	0	0.00121646	0	0
BCL6B	255877	broad.mit.edu	37	17	6929847	6929847	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:6929847C>T	uc010clt.1	+	5	1023	c.961C>T	c.(961-963)Cct>Tct	p.P321S	BCL6B_uc002geg.2_Missense_Mutation_p.P321S	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.	321						nucleus	zinc ion binding			skin(1)	1						CTCCTTGGTTCCTGGGGACGA	0.567000														80			40		0	0	0.000374591	0	0
abParts	0	broad.mit.edu	37	14	106833236	106833236	+	RNA	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:106833236C>T	uc021ser.1	-	508		c.14814G>A			abParts_uc001ysx.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CTGTGTACTTCGCACAGTAAT	0.532000														17			4		0	0	0.000602214	0	0
MECOM	2122	broad.mit.edu	37	3	169099040	169099040	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:169099040C>T	uc011bpj.1	-	1	713	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	MECOM_uc003ffl.2_Missense_Mutation_p.E76K|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.E104K|MECOM_uc011bpl.1_Missense_Mutation_p.E104K	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	104							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						CCAAACTTTTCACCTACTTCG	0.433000														56			22		0	0	0.000375601	0	0
ANK2	287	broad.mit.edu	37	4	114275856	114275856	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:114275856C>T	uc003ibe.4	+	37	6182	c.6082C>T	c.(6082-6084)Cgg>Tgg	p.R2028W	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.R2043W	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1995					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.R2028W(2)		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)		AGGTAAAGTTCGGGTAGAAAA	0.463000														47			16		0	0	0.000308642	0	0
SNX29	92017	broad.mit.edu	37	16	12618696	12618696	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:12618696C>T	uc002dby.4	+	19	2378	c.1161C>T	c.(1159-1161)ttC>ttT	p.F387F		NM_032167	NP_115543	Q8TEQ0	SNX29_HUMAN	Homo sapiens sorting nexin 29 (SNX29), mRNA.	387	PX.				cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TGCCCTTCTTCGTGTAAGTAC	0.572000														75			17		0	0	0.000422831	0	0
LLGL1	3996	broad.mit.edu	37	17	18140988	18140988	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:18140988C>T	uc002gsp.3	+	13	1866	c.1805C>T	c.(1804-1806)aCc>aTc	p.T602I		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA.	602					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GCTGCTGTAACCGCTGTCACA	0.672000														22			12		0	0	0.000978159	0	0
GPR158	57512	broad.mit.edu	37	10	25684866	25684866	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:25684866C>T	uc001isj.3	+	2	1095	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	345						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCCTAGGATTCGTTCTTGGAG	0.413000														22			9		0	0	0.000442599	0	0
CACNA1H	8912	broad.mit.edu	37	16	1257422	1257422	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:1257422C>T	uc002cks.3	+	13	3303	c.3055C>T	c.(3055-3057)Cag>Tag	p.Q1019*	CACNA1H_uc002ckt.3_Nonsense_Mutation_p.Q1019*|CACNA1H_uc002cku.3_5'Flank|CACNA1H_uc010brj.3_5'Flank|CACNA1H_uc002ckv.3_5'Flank	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1019					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GGAGGGCTTCCAGGCGGAGGT	0.662000														25			6		0	0	8.12818e-05	0	0
EPHA6	285220	broad.mit.edu	37	3	96706372	96706372	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:96706372G>A	uc010how.1	+	2	692	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	EPHA6_uc003drp.1_Missense_Mutation_p.E217K	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	122						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						GACTTGCAAAGAAACATTTAA	0.398000														73			24		0	0	0.000295444	0	0
DEFB115	245929	broad.mit.edu	37	20	29847269	29847269	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:29847269G>A	uc002wvp.1	+	1	101	c.101G>A	c.(100-102)tGg>tAg	p.W34*		NM_001037730	NP_001032819	Q30KQ5	DB115_HUMAN	Homo sapiens defensin, beta 115 (DEFB115), mRNA.	34					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			ATAGATGGATGGATCAGAAGG	0.313000														56			11		0	0	0.000151284	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21229492	21229492	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:21229492C>T	uc010sil.2	+	14	2102	c.2037C>T	c.(2035-2037)tcC>tcT	p.S679S	SLCO1B3_uc010sim.2_Silent_p.S618S|SLCO1B3_uc010sin.2_Silent_p.S571S			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	638					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)					TATATAATTCCACATATTTGG	0.323000														115			127		0	0	0.000781405	0	0
SCNN1G	6340	broad.mit.edu	37	16	23226713	23226713	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:23226713C>T	uc002dlm.1	+	12	2012	c.1873C>T	c.(1873-1875)Ccc>Tcc	p.P625S		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	625					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)	CACACCGCCCCCCAAATACAA	0.552000														52			15		0	0	0.000422831	0	0
EPHA3	2042	broad.mit.edu	37	3	89390106	89390106	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:89390106G>A	uc003dqy.3	+	3	1080	c.855G>A	c.(853-855)atG>atA	p.M285I	EPHA3_uc003dqx.1_Missense_Mutation_p.M285I|EPHA3_uc021xbf.1_Missense_Mutation_p.M285I	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	285	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATGGTAATATGAAGTGTGCTA	0.393000										TSP Lung(6;0.00050)				83			22		0	0	0.00047179	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44506200	44506200	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:44506200C>T	uc002xqd.3	+	1	1248	c.1003C>T	c.(1003-1005)Ctg>Ttg	p.L335L	ZSWIM3_uc010zxg.2_Silent_p.L329L	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	Homo sapiens zinc finger, SWIM-type containing 3 (ZSWIM3), transcript variant 1, mRNA.	335							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GAAGGAAGCCCTGCGGGAGGC	0.517000														112			32		0	0	0.000692331	0	0
FAM194A	131831	broad.mit.edu	37	3	150403780	150403780	+	Silent	SNP	C	T	T	rs145250976		TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:150403780C>T	uc003eyg.3	-	4	696	c.639G>A	c.(637-639)tcG>tcA	p.S213S	FAM194A_uc003eyh.3_Silent_p.S67S	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	213										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TATTTAGTTTCGACTCTTCTG	0.308000														63			14		0	0	0.000566183	0	0
SERPINA10	51156	broad.mit.edu	37	14	94754765	94754765	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:94754765G>A	uc001yct.3	-	2	1316	c.850C>T	c.(850-852)Cgt>Tgt	p.R284C	SERPINA10_uc001ycu.4_Missense_Mutation_p.R284C	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	284					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.R284C(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		ACATGACAACGAAAATTCTTG	0.507000														41			18		0	0	0.00074312	0	0
SUSD4	55061	broad.mit.edu	37	1	223396907	223396907	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:223396907G>A	uc001hnx.3	-	6	1762	c.1128C>T	c.(1126-1128)ctC>ctT	p.L376L	SUSD4_uc001hny.4_Silent_p.L376L|SUSD4_uc010puw.2_Silent_p.L216L	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	376						integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		CATAGGACGGGAGCATGACGG	0.617000														9			8		0	0	0.000157383	0	0
PANK4	55229	broad.mit.edu	37	1	2445459	2445459	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:2445459G>A	uc001ajm.1	-	11	1566	c.1557C>T	c.(1555-1557)ttC>ttT	p.F519F	PANK4_uc010nza.1_Silent_p.F480F	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	Homo sapiens pantothenate kinase 4 (PANK4), mRNA.	519					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	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;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AGGGATCCGGGAAGTTGAACT	0.652000														55			59		0	0	0.000781405	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24931540	24931540	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:24931540G>A	uc002dnb.3	-	19	2650	c.2557C>T	c.(2557-2559)Cct>Tct	p.P853S	ARHGAP17_uc002dmw.3_3'UTR|ARHGAP17_uc002dmy.3_Missense_Mutation_p.P298S|ARHGAP17_uc002dmz.3_Missense_Mutation_p.P377S|ARHGAP17_uc002dna.3_Missense_Mutation_p.P580S|ARHGAP17_uc002dnc.3_Missense_Mutation_p.P775S|ARHGAP17_uc010vcf.2_Missense_Mutation_p.P596S|ARHGAP17_uc002dnd.1_Non-coding_Transcript	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.	853					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TGCATTTCAGGAAAGATGCTG	0.527000														85			24		0	0	0.00047179	0	0
ANKRD5	63926	broad.mit.edu	37	20	10030179	10030179	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:10030179C>T	uc002wno.3	+	6	1355	c.962C>T	c.(961-963)cCa>cTa	p.P321L	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.P321L|ANKRD5_uc010gbz.3_Missense_Mutation_p.P132L	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	321							calcium ion binding	p.P321S(1)		breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						GCCAAAAATCCAAATCCACTG	0.527000														40			36		0	0	0.00058488	0	0
C20orf26	26074	broad.mit.edu	37	20	20056175	20056175	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:20056175C>T	uc002wru.3	+	5	596	c.482C>T	c.(481-483)cCg>cTg	p.P161L	C20orf26_uc010gcw.2_Missense_Mutation_p.P115L|C20orf26_uc010zse.2_Missense_Mutation_p.P161L|C20orf26_uc010zsf.1_Missense_Mutation_p.P161L	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	161										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GGGAACATCCCGTGTCTGACG	0.428000														115			60		0	0	0.000781405	0	0
UNC79	57578	broad.mit.edu	37	14	94041526	94041526	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:94041526G>A	uc001ybv.1	+	13	1745	c.1662G>A	c.(1660-1662)ggG>ggA	p.G554G	UNC79_uc001ybs.1_Silent_p.G554G	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	731						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						AACTGGCAGGGAACCTTGCAT	0.383000														25			17		0	0	0.00121646	0	0
LOC646214	646214	broad.mit.edu	37	15	21936481	21936481	+	RNA	SNP	C	A	A	rs61999618		TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:21936481C>A	uc010tzj.1	-	0		c.4259G>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TTTAAACCCCCAAAAGAGTAA	0.333000														87			9		3.09899e-07	2.08326e-06	0.000274275	1	0
RIMS2	9699	broad.mit.edu	37	8	104778587	104778587	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:104778587G>A	uc003ylp.3	+	2	659	c.520G>A	c.(520-522)Gag>Aag	p.E174K		NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 1, mRNA.	205	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAGAAATGAGGAGGCACCTCA	0.443000										HNSCC(12;0.0054)				48			6		0	0	8.12818e-05	0	0
IGSF22	283284	broad.mit.edu	37	11	18741335	18741335	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:18741335C>T	uc009yht.2	-	6	814	c.624G>A	c.(622-624)atG>atA	p.M208I	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	208	Lys-rich.									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						AACCATACTCCATGCACACCT	0.507000														94			71		0	0	0.000781405	0	0
OR4N5	390437	broad.mit.edu	37	14	20612558	20612558	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:20612558C>T	uc010tla.2	+	0	664	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	222					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)		TGCAGTCATCCTCTGTCGTAT	0.498000														47			23		0	0	0.000229342	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558909	113558909	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:113558909G>A	uc010ljy.1	-	0	174	c.143C>T	c.(142-144)tCt>tTt	p.S48F		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	48					glycogen metabolic process	integral to membrane		p.D47Y(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTCTTCAGAAGAATCAGAACC	0.373000														69			52		0	0	0.000781405	0	0
ITFG3	83986	broad.mit.edu	37	16	314837	314837	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:314837C>T	uc002cgf.3	+	12	1670	c.1475C>T	c.(1474-1476)gCc>gTc	p.A492V	LUC7L_uc021szo.1_Intron|ITFG3_uc002cgg.2_Missense_Mutation_p.A492V|ITFG3_uc010uud.1_Intron|ITFG3_uc002cgh.3_Missense_Mutation_p.A492V	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 3 (ITFG3), mRNA.	492						integral to membrane		p.A492T(1)		central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				AGCCGCCACGCCGCCTACATC	0.672000														19			8		0	0	0.000442599	0	0
ZNF286B	729288	broad.mit.edu	37	17	18565293	18565293	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:18565293G>A	uc010vyd.1	-	4	1777	c.1526C>T	c.(1525-1527)tCt>tTt	p.S509F		NM_001145045	NP_001138517	P0CG31	Z286B_HUMAN	Homo sapiens zinc finger protein 286B (ZNF286B), mRNA.	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						TCTGATGAGAGATGAACTGCA	0.353000														43			11		0	0	0.000308642	0	0
BCDIN3D	144233	broad.mit.edu	37	12	50232547	50232547	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:50232547G>A	uc001rvh.3	-	1	528	c.486C>T	c.(484-486)ttC>ttT	p.F162F	LOC100286844_uc010smm.2_Intron|LOC100286844_uc001rvg.3_Non-coding_Transcript|LOC100286844_uc010smn.2_Non-coding_Transcript	NM_181708	NP_859059	Q7Z5W3	BN3D2_HUMAN	Homo sapiens BCDIN3 domain containing (BCDIN3D), mRNA.	162	Bin3-type SAM.						methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						TTGACATGCAGAAGCCAATGT	0.468000											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		54			13		0	0	0.000219431	0	0
CAMK1D	57118	broad.mit.edu	37	10	12803030	12803030	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:12803030T>A	uc001ilo.3	+	3	618	c.383T>A	c.(382-384)gTc>gAc	p.V128D	CAMK1D_uc001iln.3_Missense_Mutation_p.V128D	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	128	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		ATCCGCCAAGTCTTGGACGCC	0.552000														147			6		0	0	0.00116845	0	0
TTN	7273	broad.mit.edu	37	2	179422801	179422801	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:179422801C>T	uc021vsy.1	-	276	79801	c.79576G>A	c.(79576-79578)Gaa>Aaa	p.E26526K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E20221K|TTN_uc021vta.1_Missense_Mutation_p.E20154K|TTN_uc021vtb.1_Missense_Mutation_p.E20029K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27453	Fibronectin type-III 93.						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)			GCAGTAATTTCGGTATTAAAT	0.428000														95			19		0	0	0.00152264	0	0
PKD1L2	114780	broad.mit.edu	37	16	81183453	81183453	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:81183453C>T	uc002fgh.1	-	27	4595	c.4595G>A	c.(4594-4596)gGa>gAa	p.G1532E	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.	1532					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						CCAGATGTGTCCATCCTGGAA	0.592000														24			6		0	0	8.12818e-05	0	0
ZNF394	84124	broad.mit.edu	37	7	99091810	99091810	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:99091810G>A	uc003uqs.3	-	2	1189	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F	ZNF394_uc003uqt.3_Missense_Mutation_p.S136F	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN	Homo sapiens zinc finger protein 394 (ZNF394), mRNA.	343					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	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)					AAAAAGGCTGGAATGATGGAA	0.473000														73			64		0	0	0.000781405	0	0
CNTD1	124817	broad.mit.edu	37	17	40958834	40958834	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:40958834A>C	uc002ibm.4	+	4	955	c.723A>C	c.(721-723)caA>caC	p.Q241H	CNTD1_uc010wha.2_Missense_Mutation_p.Q158H	NM_173478	NP_775749	Q8N815	CNTD1_HUMAN	Homo sapiens cyclin N-terminal domain containing 1 (CNTD1), mRNA.	241										central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GTCAGCTGCAAGGGTAAGACA	0.517000														11			10		0	0	0.000442599	0	0
PPARA	5465	broad.mit.edu	37	22	46614165	46614165	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr22:46614165C>T	uc003bhb.1	+	3	498	c.375C>T	c.(373-375)ttC>ttT	p.F125F	PPARA_uc003bgw.1_Silent_p.F125F|PPARA_uc003bgx.1_Silent_p.F125F|PPARA_uc010hab.1_Silent_p.F125F|PPARA_uc003bha.3_Silent_p.F125F|PPARA_uc010hac.1_5'UTR	NM_005036	NP_005027	Q07869	PPARA_HUMAN	Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA.	125					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|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|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	CACAGGGCTTCTTTCGGCGAA	0.448000														12			14		0	0	0.000219431	0	0
SI	6476	broad.mit.edu	37	3	164733005	164733006	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:164733005_164733006CC>TT	uc003fei.3	-	32	3967_3968	c.3904_3905GG>AA	c.(3904-3906)gga>AAa	p.G1302K		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1302	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)	TGTTTCATTTCCTGAAATTGCT	0.347000										HNSCC(35;0.089)				20			6		0	0	6.4e-05	0	0
C12orf12	196477	broad.mit.edu	37	12	91347568	91347568	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:91347568C>T	uc001tbj.3	-	0	1386	c.952G>A	c.(952-954)Gag>Aag	p.E318K		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	318	Glu-rich.									NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						tcttcttcctcctcatcttcg	0.547000														20			7		0	0	8.12818e-05	0	0
MYH7B	57644	broad.mit.edu	37	20	33586421	33586421	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:33586421G>A	uc002xbi.2	+	33	4425	c.4108G>A	c.(4108-4110)Gag>Aag	p.E1370K		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1328						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCAGCTAGAGGAGGAAAGCAA	0.632000														41			10		0	0	0.000673444	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50464043	50464043	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:50464043C>T	uc010ybh.2	-	1	317	c.226G>A	c.(226-228)Gga>Aga	p.G76R	SIGLEC11_uc010ybi.2_Missense_Mutation_p.G76R	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	76	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CTGGTCCGTCCTTTGAACCAG	0.607000														24			12		0	0	0.00136819	0	0
ATP10B	23120	broad.mit.edu	37	5	160039886	160039886	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:160039886C>T	uc003lym.1	-	17	3547	c.2700G>A	c.(2698-2700)acG>acA	p.T900T	ATP10B_uc010jit.1_Silent_p.T217T|ATP10B_uc003lyn.3_Silent_p.T458T	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	900					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)			GAGTGGCAATCGTATCTGGAA	0.507000														11			20		0	0	0.000229342	0	0
CHIT1	1118	broad.mit.edu	37	1	203192347	203192347	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:203192347C>T	uc001gzn.2	-	5	617	c.521G>A	c.(520-522)gGg>gAg	p.G174E	CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_5'UTR|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Missense_Mutation_p.G165E	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA.	174					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GCGTTCCTTCCCTGAGGTCTG	0.602000														76			35		0	0	0.000814825	0	0
GHRHR	2692	broad.mit.edu	37	7	31011632	31011632	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:31011632C>T	uc003tbx.3	+	5	567	c.519C>T	c.(517-519)atC>atT	p.I173I	GHRHR_uc003tby.3_Silent_p.I109I|GHRHR_uc003tbz.3_5'UTR	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	173					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CCACTTTTATCCTCAAGGCGG	0.567000														43			38		0	0	0.00148497	0	0
SFTPD	6441	broad.mit.edu	37	10	81697824	81697824	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:81697824G>A	uc001kbh.3	-	7	955	c.912C>T	c.(910-912)gtC>gtT	p.V304V		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	304	C-type lectin.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TCTTAGCTACGACCAGCTGTT	0.557000														66			27		0	0	0.000878237	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84902464	84902464	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:84902464C>T	uc010voh.1	+	7	1088	c.861C>T	c.(859-861)gtC>gtT	p.V287V	CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fim.2_Silent_p.V287V|CRISPLD2_uc002fin.4_Silent_p.V287V	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	Homo sapiens cysteine-rich secretory protein LCCL domain containing 2 (CRISPLD2), mRNA.	287	LCCL 1.					extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						TAGCCCAAGTCGTCAGATGTG	0.547000														39			6		0	0	8.12818e-05	0	0
CACNA1S	779	broad.mit.edu	37	1	201061138	201061138	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:201061138C>T	uc001gvv.3	-	3	730	c.503G>A	c.(502-504)cGa>cAa	p.R168Q		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	168					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)	TCTGAGCACTCGGAAGGCTCT	0.602000														34			10		0	0	0.000442599	0	0
DBC1	1620	broad.mit.edu	37	9	121976304	121976304	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:121976304T>A	uc004bkc.2	-	5	1271	c.815A>T	c.(814-816)gAg>gTg	p.E272V	DBC1_uc004bkd.2_Missense_Mutation_p.E272V	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	272					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CTGCGGAAACTCCTCGGCACA	0.557000														78			10		0	0	0.000673444	0	0
DEFB116	245930	broad.mit.edu	37	20	29891192	29891192	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:29891192T>A	uc010ztm.2	-	1	132	c.132A>T	c.(130-132)caA>caT	p.Q44H		NM_001037731	NP_001032820	Q30KQ4	DB116_HUMAN	Homo sapiens defensin, beta 116 (DEFB116), mRNA.	44					defense response to bacterium	extracellular region				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGCACATGCCTTGGTAAAGCT	0.458000														270			42		0	0	0.000437636	0	0
LIPE	3991	broad.mit.edu	37	19	42931222	42931223	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:42931222_42931223GG>AA	uc002otr.3	-	0	356_357	c.79_80CC>TT	c.(79-81)cct>TTt	p.P27F	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|LIPE_uc002ots.1_5'Flank	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	27					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TTCTGGCCCAGGCTCTAGCGGG	0.535000														38			29		0	0	6.4e-05	0	0
PIGU	128869	broad.mit.edu	37	20	33162970	33162970	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:33162970A>G	uc002xas.3	-	10	1332	c.1132T>C	c.(1132-1134)Tat>Cat	p.Y378H	PIGU_uc010zul.2_Missense_Mutation_p.Y378H|PIGU_uc002xat.3_Missense_Mutation_p.Y358H	NM_080476	NP_536724	Q9H490	PIGU_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class U (PIGU), mRNA.	378					C-terminal protein lipidation|attachment of GPI anchor to protein|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						CTTCCTGCATAAATCCAGAGG	0.507000														68			33		0	0	0.000339439	0	0
RBM41	55285	broad.mit.edu	37	X	106312573	106312573	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chrX:106312573G>A	uc004emz.3	-	5	1041	c.987C>T	c.(985-987)ttC>ttT	p.F329F	RBM41_uc004emy.2_Silent_p.F329F	NM_018301	NP_060771	Q96IZ5	RBM41_HUMAN	Homo sapiens RNA binding motif protein 41 (RBM41), transcript variant 1, mRNA.	329	RRM.						RNA binding|nucleotide binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						GGAACCGAGCGAACAATGACA	0.418000														35			70		0	0	0.000781405	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44805846	44805846	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:44805846C>T	uc003tlr.3	+	16	2449	c.2326C>T	c.(2326-2328)Ccg>Tcg	p.P776S	ZMIZ2_uc003tlq.3_Missense_Mutation_p.P718S|ZMIZ2_uc003tls.3_Missense_Mutation_p.P750S|ZMIZ2_uc003tlt.3_Missense_Mutation_p.P399S|ZMIZ2_uc010kyj.3_Missense_Mutation_p.P298S|ZMIZ2_uc003tlu.3_Missense_Mutation_p.P57S|ZMIZ2_uc010kyk.2_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	776	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGAGTTCACCCCGGGACCACC	0.622000														34			22		0	0	0.00152264	0	0
APCS	325	broad.mit.edu	37	1	159558215	159558215	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:159558215G>T	uc001ftv.3	+	1	485	c.389G>T	c.(388-390)gGg>gTg	p.G130V		NM_001639	NP_001630	P02743	SAMP_HUMAN	Homo sapiens amyloid P component, serum (APCS), mRNA.	130	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					TGGATCAATGGGACACCTTTG	0.483000														62			10		6.40141e-05	0.00042763	0.000978159	1	0
CNOT1	23019	broad.mit.edu	37	16	58577803	58577803	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:58577803G>A	uc002env.3	-	30	4435	c.4142C>T	c.(4141-4143)cCc>cTc	p.P1381L	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.P1376L|CNOT1_uc002enx.3_Missense_Mutation_p.P1381L|CNOT1_uc010vik.2_Missense_Mutation_p.P338L	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	1381					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTGAAACAAGGGAATCTGGGG	0.458000														19			25		0	0	0.00106085	0	0
ACTL9	284382	broad.mit.edu	37	19	8807924	8807924	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:8807924C>T	uc002mkl.2	-	0	1249	c.1128G>A	c.(1126-1128)agG>agA	p.R376R		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	376						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CGGAGAAATTCCTGGTGGGCT	0.667000														13			6		0	0	0.000673444	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665880	19665880	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:19665880G>A	uc002wrl.3	+	11	1396	c.1199G>A	c.(1198-1200)aGg>aAg	p.R400K		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	400						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGGACACGGAGGGACGATGTT	0.537000														44			12		0	0	0.000978159	0	0
KRT24	192666	broad.mit.edu	37	17	38857515	38857515	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:38857515C>T	uc002hvd.3	-	2	789	c.732G>A	c.(730-732)gtG>gtA	p.V244V		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	Homo sapiens keratin 24 (KRT24), mRNA.	244	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.S243G(1)		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)				TGTCAGCCTCCACGCTCTGCC	0.542000														13			14		0	0	0.000151284	0	0
HSD17B12	51144	broad.mit.edu	37	11	43819886	43819886	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:43819886G>A	uc001mxq.4	+	3	535	c.300G>A	c.(298-300)gtG>gtA	p.V100V		NM_016142	NP_057226	Q53GQ0	DHB12_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 12 (HSD17B12), mRNA.	100					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity			endometrium(2)|large_intestine(4)|lung(4)	10						AATTCAAAGTGGAGACAAGAA	0.363000														37			33		0	0	0.000339439	0	0
TERT	7015	broad.mit.edu	37	5	1293435	1293435	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:1293435C>T	uc003jcb.1	-	1	1624	c.1566G>A	c.(1564-1566)agG>agA	p.R522R	TERT_uc003jcc.1_Silent_p.R522R|TERT_uc003jca.1_Silent_p.R522R|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Intron	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	522	RNA-interacting domain 2.|Required for oligomerization.		R -> K (associated with acute myeloid leukemia).		DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CACCTGGGCTCCTGCGCAGCC	0.642000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					44			11		0	0	0.000978159	0	0
FTSJD2	23070	broad.mit.edu	37	6	37420894	37420894	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:37420894C>T	uc003ons.3	+	6	934	c.681C>T	c.(679-681)atC>atT	p.I227I	FTSJD2_uc010jwu.2_Intron	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA.	227					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						ATGAGATGATCCGAGGAGTCT	0.507000														75			61		0	0	0.000781405	0	0
MORN1	79906	broad.mit.edu	37	1	2268180	2268180	+	Silent	SNP	G	A	A	rs150260968	byFrequency	TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:2268180G>A	uc001ajb.1	-	10	1167	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F	MORN1_uc009vld.3_Silent_p.F358F	NM_024848	NP_079124	Q5T089	MORN1_HUMAN	Homo sapiens MORN repeat containing 1 (MORN1), mRNA.	382										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		CCAGGAACAGGAAGGGGTGGT	0.682000														10			13		0	0	0.00136819	0	0
DIP2C	22982	broad.mit.edu	37	10	409149	409149	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:409149G>A	uc001ifp.3	-	20	2670	c.2580C>T	c.(2578-2580)agC>agT	p.S860S	DIP2C_uc009xhi.1_Silent_p.S246S|DIP2C_uc010pzz.1_Silent_p.S181S	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	860						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCAGCACACGGCTCATCCACT	0.587000														9			4		0	0	0.000602214	0	0
ACAN	176	broad.mit.edu	37	15	89400699	89400699	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:89400699G>A	uc010upo.1	+	11	5257	c.4883G>A	c.(4882-4884)gGa>gAa	p.G1628E	ACAN_uc010upp.1_Missense_Mutation_p.G1628E|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1628					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTTCCCTCTGGATTTAGTGGT	0.532000														144			25		0	0	0.00106085	0	0
SHANK3	85358	broad.mit.edu	37	22	51160649	51160649	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr22:51160649C>T	uc003bne.1	+	21	4436	c.4436C>T	c.(4435-4437)cCt>cTt	p.P1479L	SHANK3_uc003bnf.1_Missense_Mutation_p.P926L	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	1479										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CCTGCCCGCCCTCGCTACCTC	0.682000														12			13		0	0	0.000151284	0	0
PLCB4	5332	broad.mit.edu	37	20	9288477	9288477	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:9288477G>A	uc021wam.1	+	0	31	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	PLCB4_uc010gbw.1_Missense_Mutation_p.E6K|PLCB4_uc010gbx.3_Missense_Mutation_p.E6K|PLCB4_uc021wal.1_Missense_Mutation_p.E6K	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	6					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						CAAACCTTATGAATTTAACTG	0.333000														31			10		0	0	0.000978159	0	0
MST1P2	11209	broad.mit.edu	37	1	16974277	16974277	+	RNA	SNP	A	C	C	rs151151026	by1000genomes	TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:16974277A>C	uc009vow.2	+	4		c.1087A>C			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Splice_Site|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Splice_Site|MST1P2_uc009vox.3_Splice_Site|MST1P2_uc001azm.4_Splice_Site					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GGTCCATCTAAGGGTCCGAGG	0.657000														12			3		0	0	0.000602214	0	0
CD1B	910	broad.mit.edu	37	1	158299806	158299806	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:158299806G>A	uc001frx.3	-	2	551	c.443C>T	c.(442-444)tCa>tTa	p.S148L	CD1B_uc001frw.3_Missense_Mutation_p.S148L	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	148					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AGGCACACATGAAGCATTCTT	0.478000														141			64		0	0	0.000781405	0	0
OR1A1	8383	broad.mit.edu	37	17	3119386	3119386	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:3119386C>T	uc010vrc.2	+	0	472	c.472C>T	c.(472-474)Ccc>Tcc	p.P158S		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CAATGCCCTCCCCCACACTCT	0.512000														46			22		0	0	0.000229342	0	0
CSAD	51380	broad.mit.edu	37	12	53552462	53552463	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:53552462_53552463GG>AA	uc001sby.3	-	15	1440_1441	c.1314_1315CC>TT	c.(1312-1317)gccccc>gcTTcc	p.P439S	CSAD_uc021qyc.1_Missense_Mutation_p.P206S|CSAD_uc001sbw.3_Missense_Mutation_p.P292S|CSAD_uc009zmt.3_Missense_Mutation_p.P221S|CSAD_uc010snx.2_Missense_Mutation_p.P466S|CSAD_uc001sbz.3_Missense_Mutation_p.P439S|CSAD_uc009zmu.3_Missense_Mutation_p.P292S|CSAD_uc021qyd.1_Intron	NM_001244705	NP_001231634	Q9Y600	CSAD_HUMAN	Homo sapiens cysteine sulfinic acid decarboxylase (CSAD), transcript variant 2, mRNA.	439					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TTGAGCACGGGGGCCACCTGTG	0.619000														5			4		0	0	6.4e-05	0	0
ELMOD1	55531	broad.mit.edu	37	11	107518222	107518222	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:107518222C>T	uc010rvs.2	+	6	853	c.449C>T	c.(448-450)cCa>cTa	p.P150L	ELMOD1_uc001pjm.3_Missense_Mutation_p.P150L|ELMOD1_uc010rvt.2_Missense_Mutation_p.P144L	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	Homo sapiens ELMO/CED-12 domain containing 1 (ELMOD1), transcript variant 1, mRNA.	150	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CCCAATACTCCACTGGAATCT	0.383000														31			21		0	0	0.000586117	0	0
SLIT3	6586	broad.mit.edu	37	5	168119619	168119619	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:168119619C>T	uc010jjg.3	-	28	3610	c.3190G>A	c.(3190-3192)Gga>Aga	p.G1064R	SLIT3_uc003mab.3_Missense_Mutation_p.G1057R	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1057	EGF-like 4.		P -> A (in dbSNP:rs10072243).		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)			TACCTGAATCCTTTGTCCAGG	0.547000														21			31		0	0	0.00178596	0	0
CSMD1	64478	broad.mit.edu	37	8	2823369	2823369	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:2823369C>T	uc022aqr.1	-	58	9598	c.9208G>A	c.(9208-9210)Gaa>Aaa	p.E3070K	CSMD1_uc011kwj.2_Missense_Mutation_p.E2400K|CSMD1_uc010lrg.3_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3071	Sushi 24.					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)		GTGACTGCTTCCATGACATAG	0.493000														11			6		0	0	0.000274275	0	0
DLK1	8788	broad.mit.edu	37	14	101200851	101200851	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:101200851G>A	uc001yhs.4	+	4	974	c.770G>A	c.(769-771)cGt>cAt	p.R257H	DLK1_uc001yhu.4_Intron|DLK1_uc021sbs.1_5'Flank	NM_003836	NP_003827	P80370	DLK1_HUMAN	Homo sapiens delta-like 1 homolog (Drosophila) (DLK1), mRNA.	257					multicellular organismal development	extracellular space|integral to membrane|soluble fraction		p.R257H(2)		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)				CAGGTCACCCGTCTGCCCAGC	0.652000														45			12		0	0	0.000978159	0	0
MSR1	4481	broad.mit.edu	37	8	16007812	16007812	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:16007812C>T	uc010lsu.3	-	6	1025	c.961G>A	c.(961-963)Ggt>Agt	p.G321S	MSR1_uc003wwz.3_Missense_Mutation_p.G303S|MSR1_uc003wxa.3_Missense_Mutation_p.G303S|MSR1_uc003wxb.3_Missense_Mutation_p.G303S|MSR1_uc011kxz.2_Missense_Mutation_p.G77S	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	303	Collagen-like.				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)		CCTTTAAGACCCGGAGGACCT	0.368000														52			10		0	0	0.000151284	0	0
SIM1	6492	broad.mit.edu	37	6	100901681	100901681	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:100901681G>A	uc003pqj.4	-	1	682	c.215C>T	c.(214-216)cCc>cTc	p.P72L	SIM1_uc021zdg.1_Missense_Mutation_p.P72L|SIM1_uc010kcu.3_Missense_Mutation_p.P72L	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	72					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)		GTTGTCCAGGGGGCTGGTCCG	0.622000														41			11		0	0	0.000673444	0	0
DNAH8	1769	broad.mit.edu	37	6	38835886	38835886	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:38835886C>T	uc021yzh.1	+	47	6851	c.6742C>T	c.(6742-6744)Ctt>Ttt	p.L2248F	DNAH8_uc003ooe.2_Missense_Mutation_p.L2031F	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						ATTGAGGACTCTTGGATCTCA	0.363000														46			32		0	0	0.000491102	0	0
ABCA2	20	broad.mit.edu	37	9	139903069	139903069	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:139903069G>A	uc004ckm.1	-	47	7211	c.7161C>T	c.(7159-7161)ttC>ttT	p.F2387F	ABCA2_uc022bpy.1_Silent_p.F2288F|ABCA2_uc022bpz.1_Silent_p.F2358F|ABCA2_uc011mem.1_Silent_p.F2357F|ABCA2_uc004ckl.1_Silent_p.F2288F|ABCA2_uc022bqa.1_Silent_p.F24F	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	2357					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CAAAGTTCACGAACACCTGGT	0.682000														7			13		0	0	0.00136819	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808424	18808424	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:18808424C>T	uc001bax.3	+	0	1001	c.949C>T	c.(949-951)Cca>Tca	p.P317S	KLHDC7A_uc009vpg.3_Missense_Mutation_p.P99S	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	317						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)		GACTGAGGTTCCATCCCCTAG	0.647000														11			12		0	0	0.00136819	0	0
SFTPB	6439	broad.mit.edu	37	2	85892775	85892775	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:85892775G>A	uc002sqj.3	-	5	672	c.572C>T	c.(571-573)cCt>cTt	p.P191L	SFTPB_uc002sqi.3_Missense_Mutation_p.P191L|SFTPB_uc002sqh.3_Missense_Mutation_p.P191L	NM_000542	NP_942140	P07988	PSPB_HUMAN	Homo sapiens surfactant protein B (SFTPB), transcript variant 1, mRNA.	179					organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						GGGCAGCACAGGGAGGACGAG	0.677000														39			23		0	0	0.00106085	0	0
ZNF385B	151126	broad.mit.edu	37	2	180311347	180311347	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:180311347A>G	uc002unn.4	-	6	1425	c.821T>C	c.(820-822)gTt>gCt	p.V274A	ZNF385B_uc002unj.3_Missense_Mutation_p.V172A|ZNF385B_uc002unl.3_Missense_Mutation_p.V171A|ZNF385B_uc002unk.3_Non-coding_Transcript|ZNF385B_uc002unm.3_Missense_Mutation_p.V198A	NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	274						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TTCTGATTCAACAACAGTACC	0.473000														53			38		0	0	0.00111076	0	0
C16orf71	146562	broad.mit.edu	37	16	4786528	4786528	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:4786528G>A	uc002cxn.3	+	1	475	c.13G>A	c.(13-15)Gat>Aat	p.D5N	ANKS3_uc002cxj.2_5'Flank|ANKS3_uc021tcj.1_5'Flank|ANKS3_uc021tck.1_5'Flank|ANKS3_uc002cxk.3_5'Flank|ANKS3_uc010uxs.2_5'Flank|ANKS3_uc002cxm.3_5'Flank	NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	Homo sapiens chromosome 16 open reading frame 71 (C16orf71), mRNA.	5										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GGCATCCAACGATAAAGGCAT	0.622000														30			12		0	0	0.000308642	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142480020	142480020	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:142480020C>T	uc011ksq.2	+	1	235	c.152C>T	c.(151-153)tCc>tTc	p.S51F	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		TGCGGTGGCTCCCTCATCAGC	0.562000														152			31		0	0	0.00058488	0	0
IL36RN	26525	broad.mit.edu	37	2	113819753	113819753	+	Silent	SNP	C	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:113819753C>A	uc002tis.3	+	3	301	c.168C>A	c.(166-168)ccC>ccA	p.P56P	IL36RN_uc002tit.3_Silent_p.P56P	NM_173170	NP_775262	Q9UBH0	I36RA_HUMAN	Homo sapiens interleukin 36 receptor antagonist (IL36RN), transcript variant 2, mRNA.	56						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GCCTGTCCCCCGTCATCCTGG	0.617000														45			5		0.00116845	0.00769693	0.00116845	1	0
SCN10A	6336	broad.mit.edu	37	3	38770173	38770173	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:38770173C>T	uc003ciq.3	-	14	2500	c.2500G>A	c.(2500-2502)Gac>Aac	p.D834N		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	834					sensory perception	voltage-gated sodium channel complex		p.D834N(2)		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)	TGGAAGAAGTCGTGCATGTGC	0.512000														21			14		0	0	0.000151284	0	0
SYNE1	23345	broad.mit.edu	37	6	152847286	152847286	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:152847286C>T	uc021zhb.1	-	2	377	c.154G>A	c.(154-156)Gat>Aat	p.D52N	SYNE1_uc003qot.4_Missense_Mutation_p.D52N|SYNE1_uc003qou.4_Missense_Mutation_p.D52N|SYNE1_uc010kjb.1_Missense_Mutation_p.D52N|SYNE1_uc003qpa.1_Missense_Mutation_p.D52N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	52	Actin-binding.|CH 1.				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)		TCAAAAAGATCGTCCACCACC	0.423000										HNSCC(10;0.0054)				41			20		0	0	0.00047179	0	0
GJA5	2702	broad.mit.edu	37	1	147230415	147230415	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:147230415C>T	uc021ovl.1	-	0	932	c.932G>A	c.(931-933)gGt>gAt	p.G311D	GJA5_uc001eps.1_Missense_Mutation_p.G311D|GJA5_uc001ept.1_Missense_Mutation_p.G311D	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	311					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		p.E310D(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CTGGATGAAACCTTCCCCAGG	0.517000														101			35		0	0	0.000491102	0	0
F8	2157	broad.mit.edu	37	X	154157677	154157677	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chrX:154157677G>A	uc004fmt.3	-	13	4559	c.4388C>T	c.(4387-4389)tCt>tTt	p.S1463F		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1463	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.S1463P(1)|p.L1462H(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AATGGCTAAAGAAAGGTTATT	0.418000														7			34		0	0	0.000953801	0	0
OR2T33	391195	broad.mit.edu	37	1	248436220	248436220	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:248436220C>T	uc010pzi.2	-	0	897	c.897G>A	c.(895-897)ctG>ctA	p.L299L		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L299Q(1)		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)			GCCACCGTTTCAGGGCTCCCT	0.448000														152			66		0	0	0.000781405	0	0
SLC6A17	388662	broad.mit.edu	37	1	110740760	110740760	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:110740760C>T	uc009wfq.3	+	11	2339	c.1878C>T	c.(1876-1878)gtC>gtT	p.V626V		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	626					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)		CCCTCATCGTCGTGGCGACGC	0.637000														6			8		0	0	0.000274275	0	0
ELL2	22936	broad.mit.edu	37	5	95242469	95242469	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:95242469G>A	uc003klr.4	-	4	849	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W		NM_012081	NP_036213	O00472	ELL2_HUMAN	Homo sapiens elongation factor, RNA polymerase II, 2 (ELL2), mRNA.	167					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		GGTGCTTTCCGAATTTGCACT	0.423000														32			34		0	0	0.000374591	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319617	21319617	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:21319617C>T	uc021tss.1	+	2	1333	c.963C>T	c.(961-963)atC>atT	p.I321I	KCNJ18_uc002gyv.1_Silent_p.I321I|KCNJ18_uc021tst.1_Silent_p.I321I	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	321						integral to membrane	inward rectifier potassium channel activity										CCAATGAGATCCTGTGGGGTC	0.577000														164			28		0	0	0.000878237	0	0
TGM4	7047	broad.mit.edu	37	3	44943043	44943043	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:44943043C>T	uc003coc.4	+	6	758	c.685C>T	c.(685-687)Ctc>Ttc	p.L229F	TGM4_uc003cob.2_Non-coding_Transcript	NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	229					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CCAGGGCGTGCTCATTGGGAA	0.597000														8			4		0	0	0.00024832	0	0
GMDS	2762	broad.mit.edu	37	6	1961041	1961041	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:1961041C>T	uc003mtq.3	-	4	717	c.505G>A	c.(505-507)Gag>Aag	p.E169K	GMDS_uc021ykn.1_Missense_Mutation_p.E139K	NM_001500	NP_001491	O60547	GMDS_HUMAN	Homo sapiens GDP-mannose 4,6-dehydratase (GMDS), transcript variant 1, mRNA.	169					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		GDP-mannose 4,6-dehydratase activity|coenzyme binding	p.E169*(2)	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)		GGGGTGGTCTCCTTCTGGGGT	0.502000														88			27		0	0	0.000339439	0	0
KCNQ1	3784	broad.mit.edu	37	11	2608915	2608915	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:2608915C>T	uc001lwn.3	+	8	1352	c.1244C>T	c.(1243-1245)tCt>tTt	p.S415F	KCNQ1_uc009ydp.1_Missense_Mutation_p.S199F|KCNQ1_uc001lwo.3_Missense_Mutation_p.S288F	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	415					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CCCAAGAAGTCTGTGGTGGTG	0.647000														164			34		0	0	0.00058488	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7518552	7518552	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:7518552C>T	uc002mgi.3	+	6	1744	c.1491C>T	c.(1489-1491)ctC>ctT	p.L497L	ARHGEF18_uc010xjm.1_Silent_p.L339L|ARHGEF18_uc002mgh.3_Silent_p.L339L|ARHGEF18_uc002mgj.1_Silent_p.L140L	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	497	PH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				AGCGGCAGCTCCACCTGGAGG	0.582000														53			8		0	0	0.000442599	0	0
YME1L1	10730	broad.mit.edu	37	10	27423048	27423048	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:27423048G>A	uc001iti.3	-	7	1076	c.866C>T	c.(865-867)tCc>tTc	p.S289F	YME1L1_uc001itj.3_Missense_Mutation_p.S232F|YME1L1_uc010qdl.2_Missense_Mutation_p.S199F	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	Homo sapiens YME1-like 1 (S. cerevisiae) (YME1L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	289					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						TCGCCTTAGGGAATCTAGGAG	0.318000														17			8		0	0	0.000157383	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156918202	156918202	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:156918202G>A	uc001fqo.3	-	21	2934	c.1894C>T	c.(1894-1896)Cgc>Tgc	p.R632C	ARHGEF11_uc010phu.2_Missense_Mutation_p.R48C|ARHGEF11_uc001fqn.3_Missense_Mutation_p.R672C|ARHGEF11_uc001fqp.1_Missense_Mutation_p.R151C	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	632					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)					CTGCGAGAGCGGGGCACGTTC	0.622000														69			16		0	0	0.000422831	0	0
ABAT	18	broad.mit.edu	37	16	8829605	8829605	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:8829605C>T	uc002czc.4	+	1	175	c.9C>T	c.(7-9)tcC>tcT	p.S3S	ABAT_uc002czd.4_Silent_p.S3S|ABAT_uc010buh.3_5'UTR|ABAT_uc010bui.3_Silent_p.S3S	NM_020686	NP_065737	P80404	GABT_HUMAN	Homo sapiens 4-aminobutyrate aminotransferase (ABAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	3					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	TCATGGCCTCCATGTTGCTCG	0.592000														9			4		0	0	0.00116845	0	0
ACVR2A	92	broad.mit.edu	37	2	148657386	148657386	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:148657386A>T	uc002twg.3	+	4	716	c.447A>T	c.(445-447)ttA>ttT	p.L149F	ACVR2A_uc010zbn.2_Missense_Mutation_p.L41F|ACVR2A_uc002twh.3_Missense_Mutation_p.L149F	NM_001616	NP_001607	P27037	AVR2A_HUMAN	Homo sapiens activin A receptor, type IIA (ACVR2A), mRNA.	149					BMP signaling pathway|activin receptor signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		CACTTATGTTAATTGCGGGGA	0.443000														115			71		0	0	0.000781405	0	0
DMBT1	1755	broad.mit.edu	37	10	124399588	124399588	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:124399588C>T	uc001lgk.1	+	51	6694	c.6588C>T	c.(6586-6588)ttC>ttT	p.F2196F	DMBT1_uc001lgl.1_Silent_p.F2186F|DMBT1_uc001lgm.1_Silent_p.F1568F|DMBT1_uc021qaf.1_Silent_p.F2196F|DMBT1_uc021qag.1_Silent_p.F2186F|DMBT1_uc021qah.1_Silent_p.F1568F|DMBT1_uc009xzz.1_Silent_p.F2195F|DMBT1_uc010qtx.1_Silent_p.F916F|DMBT1_uc009yab.1_Silent_p.F899F|DMBT1_uc009yac.1_Silent_p.F490F	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2196	ZP.			F -> L (in Ref. 2; CAB56155).	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)				ATTCCAACTTCCTCACAGCAG	0.522000														35			10		0	0	0.000978159	0	0
GRM5	2915	broad.mit.edu	37	11	88337902	88337902	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:88337902C>T	uc001pcq.3	-	3	1578	c.1378G>A	c.(1378-1380)Gga>Aga	p.G460R	GRM5_uc009yvm.3_Missense_Mutation_p.G460R	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	460					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GGAGAGTCTCCATTCTCATCG	0.428000														18			7		0	0	8.12818e-05	0	0
C1orf55	163859	broad.mit.edu	37	1	226180687	226180687	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:226180687G>A	uc001hpu.4	-	2	308	c.255C>T	c.(253-255)ctC>ctT	p.L85L		NM_152608	NP_689821	Q6IQ49	CA055_HUMAN	Homo sapiens chromosome 1 open reading frame 55 (C1orf55), mRNA.	85										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(13)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(184;0.197)					CAAGTGCTCGGAGCATAGATC	0.423000														50			11		0	0	0.00136819	0	0
FAM188B	84182	broad.mit.edu	37	7	30880418	30880418	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:30880418C>T	uc003tbt.3	+	8	1476	c.1399C>T	c.(1399-1401)Cta>Tta	p.L467L	FAM188B_uc010kwe.3_Silent_p.L438L	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	467										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGCTGTGTCCTACAGAAACT	0.507000														76			18		0	0	0.000229342	0	0
ZSCAN23	222696	broad.mit.edu	37	6	28403789	28403789	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:28403789C>T	uc003nli.4	-	1	436	c.255G>A	c.(253-255)gaG>gaA	p.E85E	ZSCAN23_uc003nlh.2_Non-coding_Transcript|ZSCAN23_uc010jrf.1_Intron|ZSCAN23_uc011dli.2_Silent_p.E85E	NM_001012455	NP_001012458	Q3MJ62	ZSC23_HUMAN	Homo sapiens zinc finger and SCAN domain containing 23 (ZSCAN23), mRNA.	85	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|prostate(1)|stomach(2)	4						CTAGGATCTGCTCCTTGGTGT	0.607000														31			6		0	0	0.000442599	0	0
NISCH	11188	broad.mit.edu	37	3	52524839	52524839	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:52524839C>T	uc003ded.4	+	18	3866	c.3732C>T	c.(3730-3732)ttC>ttT	p.F1244F	NISCH_uc003dee.4_Silent_p.F733F|NISCH_uc003deg.1_Non-coding_Transcript	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	1244					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		ACCAGCATTTCCGGCTGACGG	0.542000														45			17		0	0	0.000295444	0	0
CASP5	838	broad.mit.edu	37	11	104866478	104866478	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:104866478C>T	uc010ruz.1	-	8	1369	c.1337G>A	c.(1336-1338)gGc>gAc	p.G446D	CASP5_uc010rva.1_Missense_Mutation_p.G433D|CASP5_uc010rvb.1_Missense_Mutation_p.G375D|CASP5_uc010rvc.1_Missense_Mutation_p.G291D|CASP5_uc009yxh.2_Missense_Mutation_p.G215D|CASP5_uc010rvd.1_Missense_Mutation_p.G215D	NM_001136112	NP_001129584	P51878	CASP5_HUMAN	Homo sapiens caspase 5, apoptosis-related cysteine peptidase (CASP5), transcript variant f, mRNA.	433					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTTTCAATTGCCAGGAAAGAG	0.403000														41			25		0	0	0.00047179	0	0
KIF6	221458	broad.mit.edu	37	6	39602662	39602662	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:39602662C>T	uc003oot.2	-	4	567	c.472G>A	c.(472-474)Gat>Aat	p.D158N	KIF6_uc010jxa.1_5'UTR|KIF6_uc011dua.1_Missense_Mutation_p.D158N|KIF6_uc010jxb.1_Missense_Mutation_p.D158N	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	158	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGTCTTGGATCCAAAAGATCA	0.358000														50			30		0	0	0.00178596	0	0
PM20D1	148811	broad.mit.edu	37	1	205814641	205814641	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:205814641C>T	uc001hdj.3	-	2	377	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	PM20D1_uc009xbr.3_Non-coding_Transcript	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA.	101						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TACTCTTCCACGACTTCATGC	0.507000														47			40		0	0	0.000437636	0	0
SEZ6L	23544	broad.mit.edu	37	22	26707860	26707860	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr22:26707860G>A	uc003acb.3	+	7	2004	c.1808G>A	c.(1807-1809)gGc>gAc	p.G603D	SEZ6L_uc003acd.3_Missense_Mutation_p.G603D|SEZ6L_uc011akd.2_Missense_Mutation_p.G603D|SEZ6L_uc003ace.3_Missense_Mutation_p.G603D|SEZ6L_uc011akc.2_Missense_Mutation_p.G603D|SEZ6L_uc003acc.3_Missense_Mutation_p.G603D|SEZ6L_uc003acf.1_Missense_Mutation_p.G376D|SEZ6L_uc010gvc.1_Missense_Mutation_p.G376D	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	603	Sushi 2.					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						CTGGAGCAGGGCCCGGCCATC	0.577000														158			58		0	0	0.000781405	0	0
KRT85	3891	broad.mit.edu	37	12	52760939	52760939	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:52760939G>A	uc001sag.3	-	0	371	c.251C>T	c.(250-252)tCc>tTc	p.S84F		NM_002283	NP_002274	P78386	KRT85_HUMAN	Homo sapiens keratin 85 (KRT85), mRNA.	84	Head.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CACGCCCCCGGAGCGGTAGCC	0.687000														44			24		0	0	0.000720815	0	0
LIN28B	389421	broad.mit.edu	37	6	105526589	105526589	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:105526589G>A	uc003pqv.1	+	3	887	c.684G>A	c.(682-684)acG>acA	p.T228T	LIN28B_uc010kda.1_3'UTR	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN	Homo sapiens lin-28 homolog B (C. elegans) (LIN28B), mRNA.	228					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.S227S(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)				CTTCCTCCACGAAGTCATCTA	0.488000														26			8		0	0	0.000673444	0	0
KCNC2	3747	broad.mit.edu	37	12	75444313	75444313	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:75444313C>A	uc001sxg.1	-	2	2016	c.1472G>T	c.(1471-1473)aGg>aTg	p.R491M	KCNC2_uc009zry.3_Missense_Mutation_p.R491M|KCNC2_uc001sxe.3_Missense_Mutation_p.R491M|KCNC2_uc001sxf.3_Missense_Mutation_p.R491M|KCNC2_uc010stw.1_Missense_Mutation_p.R491M	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	491					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						CTTTCTTTTCCTTGGAAGTTT	0.453000														68			14		1.5842e-08	1.06833e-07	0.000151284	1	0
UNC13D	201294	broad.mit.edu	37	17	73827358	73827358	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:73827358G>A	uc002jpp.3	-	25	2899	c.2519C>T	c.(2518-2520)tCc>tTc	p.S840F	UNC13D_uc010wsk.1_Missense_Mutation_p.S840F	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	840	MHD2.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGAAGCCAGGGATGAGCTGCG	0.637000									Familial Hemophagocytic Lymphohistiocytosis					41			8		0	0	0.000442599	0	0
NLRP1	22861	broad.mit.edu	37	17	5445200	5445200	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:5445200C>T	uc002gci.3	-	5	3231	c.2676G>A	c.(2674-2676)ccG>ccA	p.P892P	NLRP1_uc002gcg.1_Silent_p.P892P|NLRP1_uc002gch.4_Silent_p.P892P|NLRP1_uc002gck.3_Silent_p.P892P|NLRP1_uc002gcj.3_Silent_p.P892P|NLRP1_uc002gcl.3_Silent_p.P892P|NLRP1_uc010clh.3_Silent_p.P892P	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	892					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)				GCTTGCAGCTCGGCTGTCTCA	0.587000														39			16		0	0	0.00074312	0	0
CCDC141	285025	broad.mit.edu	37	2	179730571	179730571	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:179730571G>A	uc002une.2	-	16	2765	c.2647C>T	c.(2647-2649)Cgt>Tgt	p.R883C	CCDC141_uc002unf.1_Missense_Mutation_p.R362C	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	308							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)			GCTTTGGCACGCCACTTCATG	0.527000														206			56		0	0	0.000781405	0	0
UGT3A1	133688	broad.mit.edu	37	5	35991296	35991297	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:35991296_35991297CC>TT	uc003jjv.2	-	0	239_240	c.46_47GG>AA	c.(46-48)ggg>AAg	p.G16K	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.G16K|UGT3A1_uc011cor.2_Missense_Mutation_p.G16K|UGT3A1_uc003jjy.2_Intron	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	16						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)			GAGCAGGACCCCAGAAAGAAGG	0.619000														40			22		0	0	6.4e-05	0	0
ZEB1	6935	broad.mit.edu	37	10	31810034	31810034	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:31810034A>T	uc001ivs.4	+	6	1834	c.1771A>T	c.(1771-1773)Aac>Tac	p.N591Y	ZEB1_uc001ivr.4_Missense_Mutation_p.N373Y|ZEB1_uc010qef.2_Missense_Mutation_p.N373Y|ZEB1_uc009xlj.1_Missense_Mutation_p.N517Y|ZEB1_uc010qeg.1_Missense_Mutation_p.N450Y|ZEB1_uc009xlk.1_Missense_Mutation_p.N373Y|ZEB1_uc001ivu.4_Missense_Mutation_p.N592Y|ZEB1_uc010qeh.2_Missense_Mutation_p.N524Y|ZEB1_uc001ivv.4_Missense_Mutation_p.N571Y|ZEB1_uc001ivt.4_Missense_Mutation_p.N373Y|ZEB1_uc009xlo.2_Missense_Mutation_p.N574Y|ZEB1_uc009xlp.3_Missense_Mutation_p.N575Y	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	591					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)				ACCTTTAAAGAACCTCTTGTC	0.458000														41			8		0	0	0.000274275	0	0
COL21A1	81578	broad.mit.edu	37	6	56044434	56044434	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:56044434C>T	uc003pcs.3	-	2	814	c.582G>A	c.(580-582)gtG>gtA	p.V194V	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Silent_p.V194V|COL21A1_uc003pcu.1_Silent_p.V194V	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	194	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TATAGTCTTCCACATAAAACA	0.343000														38			10		0	0	0.000442599	0	0
RUFY4	285180	broad.mit.edu	37	2	218947953	218947953	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:218947953G>A	uc010fvl.2	+	10	1994	c.1476G>A	c.(1474-1476)atG>atA	p.M492I	RUFY4_uc002vgw.3_Missense_Mutation_p.M319I	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA.	492							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCCAGGCCATGAAGAGGCGGG	0.597000														34			30		0	0	0.00170553	0	0
FILIP1	27145	broad.mit.edu	37	6	76023520	76023520	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:76023520G>A	uc010kbe.3	-	5	2567	c.2037C>T	c.(2035-2037)ttC>ttT	p.F679F	FILIP1_uc003phy.1_Silent_p.F676F|FILIP1_uc003phz.3_Silent_p.F577F|FILIP1_uc003pia.3_Silent_p.F676F|FILIP1_uc003pib.1_Silent_p.F428F	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	676								p.S678S(1)|p.F676F(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GTTGAGAGAGGAAGTTAGCCT	0.433000														107			54		0	0	0.000781405	0	0
BPI	671	broad.mit.edu	37	20	36954768	36954768	+	Silent	SNP	C	T	T	rs144501421		TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:36954768C>T	uc002xib.2	+	9	1169	c.1107C>T	c.(1105-1107)gcC>gcT	p.A369A		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	369					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	p.P368H(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TCTACCCTGCCGTGGATGTCC	0.582000														24			8		0	0	0.000157383	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995196	140995196	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chrX:140995196G>A	uc004fbt.3	+	3	2330	c.2006G>A	c.(2005-2007)gGg>gAg	p.G669E	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.G328E	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	669							protein binding	p.E668K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCTGAGGGGATGCACTCC	0.572000										HNSCC(15;0.026)				20			62		0	0	0.000781405	0	0
EPHB6	2051	broad.mit.edu	37	7	142566054	142566054	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:142566054C>T	uc011kst.2	+	13	2761	c.1974C>T	c.(1972-1974)atC>atT	p.I658I	EPHB6_uc011ksu.2_Silent_p.I658I|EPHB6_uc003wbs.3_Silent_p.I366I|EPHB6_uc003wbt.3_Silent_p.I132I|EPHB6_uc003wbu.3_Silent_p.I366I|EPHB6_uc003wbv.3_Silent_p.I42I	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	658						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GTCAGGCCATCCGAGAACTTG	0.562000														55			24		0	0	0.000586117	0	0
CCR3	1232	broad.mit.edu	37	3	46307563	46307563	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:46307563G>A	uc003cpl.2	+	2	2044	c.1013G>A	c.(1012-1014)gGa>gAa	p.G338E	CCR3_uc003cpg.2_Missense_Mutation_p.G305E|CCR3_uc003cpk.2_Missense_Mutation_p.G326E|CCR3_uc003cpi.2_Missense_Mutation_p.G305E|CCR3_uc010hjb.2_Missense_Mutation_p.G323E|CCR3_uc003cpj.2_Missense_Mutation_p.G305E|CCR3_uc021wwz.1_Missense_Mutation_p.G305E	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	305					G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GCCTTTGTTGGAGAGAGGTTC	0.552000														23			8		0	0	0.000673444	0	0
OR52N4	390072	broad.mit.edu	37	11	5776758	5776758	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:5776758C>T	uc001mbu.3	+	0	836	c.788C>T	c.(787-789)tCc>tTc	p.S263F	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TCCTTCTTTTCCCACCGCTTT	0.478000														88			32		0	0	0.000692331	0	0
PI16	221476	broad.mit.edu	37	6	36931063	36931063	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:36931063C>T	uc021yzd.1	+	5	1168	c.945C>T	c.(943-945)atC>atT	p.I315I	PI16_uc003omz.1_Intron|PI16_uc003ona.3_Silent_p.I315I|PI16_uc011dts.1_Silent_p.I86I	NM_001199159	NP_001186088	Q6UXB8	PI16_HUMAN	Homo sapiens peptidase inhibitor 16 (PI16), transcript variant 2, mRNA.	315						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGTTCCTATCCCAAAATCAG	0.527000														40			15		0	0	0.00152264	0	0
TREH	11181	broad.mit.edu	37	11	118532427	118532427	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:118532427C>T	uc001pty.1	-	5	581	c.536G>A	c.(535-537)tGg>tAg	p.W179*	TREH_uc009zaj.1_Intron|TREH_uc001ptz.1_Nonsense_Mutation_p.W56*|TREH_uc009zak.3_Nonsense_Mutation_p.W179*	NM_007180	NP_009111	O43280	TREA_HUMAN	Homo sapiens trehalase (brush-border membrane glycoprotein) (TREH), mRNA.	179					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity			NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		CTCCATGACCCAGTAGGAGTC	0.632000														32			5		0	0	0.000602214	0	0
C12orf42	374470	broad.mit.edu	37	12	103762667	103762667	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:103762667G>A	uc001tjt.2	-	3	345	c.257C>T	c.(256-258)cCa>cTa	p.P86L	C12orf42_uc001tjs.3_Non-coding_Transcript|C12orf42_uc009zuf.1_Missense_Mutation_p.P86L|C12orf42_uc001tju.2_5'UTR	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA.	86										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						TAATTTACCTGGAAAATTCAG	0.343000														3			6		0	0	0.00116845	0	0
SLC26A9	115019	broad.mit.edu	37	1	205895697	205895698	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:205895697_205895698GG>AA	uc001hdp.3	-	11	1468_1469	c.1354_1355CC>TT	c.(1354-1356)ccc>TTc	p.P452F	SLC26A9_uc001hdo.3_Missense_Mutation_p.P120F|SLC26A9_uc001hdq.3_Missense_Mutation_p.P452F	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	452						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)			CAGGTAGTAGGGGTCGGTGAGT	0.584000														66			30		0	0	6.4e-05	0	0
KRT34	3885	broad.mit.edu	37	17	39538518	39538518	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:39538518G>A	uc002hwm.3	-	0	119	c.107C>T	c.(106-108)tCc>tTc	p.S36F		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	36	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				ACAGGTAATGGAAAAGCAGGT	0.582000														26			23		0	0	0.00047179	0	0
GRIN3A	116443	broad.mit.edu	37	9	104340091	104340091	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:104340091C>T	uc004bbp.2	-	7	3568	c.2967G>A	c.(2965-2967)gaG>gaA	p.E989E	GRIN3A_uc004bbo.2_Silent_p.E64E|GRIN3A_uc004bbq.1_Silent_p.E989E	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	989					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)	GCTGCTTTTCCTCTATAAATG	0.358000														29			59		0	0	0.000781405	0	0
RIMS2	9699	broad.mit.edu	37	8	105263362	105263362	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:105263362G>A	uc003yls.3	+	26	4097	c.3856G>A	c.(3856-3858)Gaa>Aaa	p.E1286K	RIMS2_uc003ylp.3_Missense_Mutation_p.E1268K|RIMS2_uc003ylw.2_Missense_Mutation_p.E1275K|RIMS2_uc003ylq.3_Missense_Mutation_p.E1082K|RIMS2_uc003ylr.3_Missense_Mutation_p.E1107K	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1330	C2 2.				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)			ATTATCTTTCGAAGAGAGTCC	0.368000										HNSCC(12;0.0054)				17			13		0	0	0.000219431	0	0
SLC35G2	80723	broad.mit.edu	37	3	136574014	136574014	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:136574014A>T	uc003erf.4	+	1	926	c.712A>T	c.(712-714)Atc>Ttc	p.I238F	SLC35G2_uc003erg.4_Missense_Mutation_p.I238F|SLC35G2_uc010hub.3_Missense_Mutation_p.I238F|SLC35G2_uc021xem.1_Missense_Mutation_p.I238F	NM_001097600	NP_079522	Q8TBE7	TMM22_HUMAN	Homo sapiens transmembrane protein 22 (TMEM22), transcript variant 3, mRNA.	238	DUF6 1.					Golgi apparatus|integral to membrane											TCTTGTCATGATCCCAAACAT	0.423000														46			18		0	0	0.000958276	0	0
GPR116	221395	broad.mit.edu	37	6	46874483	46874483	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:46874483C>T	uc003oyo.3	-	1	306	c.17G>A	c.(16-18)aGa>aAa	p.R6K	GPR116_uc003oyp.3_Missense_Mutation_p.R6K|GPR116_uc003oyq.3_Missense_Mutation_p.R6K|GPR116_uc003oyr.2_Missense_Mutation_p.R6K|BC042990_uc003oys.3_Intron	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	6					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R6I(2)		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)			CAAAGTGGTTCTCCTTGGGGA	0.358000														39			38		0	0	0.00111076	0	0
WISP1	8840	broad.mit.edu	37	8	134239797	134239797	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:134239797G>A	uc003yub.3	+	4	1054	c.948G>A	c.(946-948)aaG>aaA	p.K316K	WISP1_uc003yuc.3_Silent_p.K229K|WISP1_uc010meb.3_Silent_p.K144K|WISP1_uc010mec.3_3'UTR|WISP1_uc010med.3_Silent_p.K71K|WISP1_uc003yud.3_Non-coding_Transcript	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	316	CTCK.				Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			ACAAGTCTAAGACTATCGACG	0.517000														52			37		0	0	0.000374591	0	0
OR2T10	127069	broad.mit.edu	37	1	248756644	248756644	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:248756644G>A	uc010pzn.2	-	0	426	c.426C>T	c.(424-426)ctC>ctT	p.L142L		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			ATGCCAGGAGGAGACATACCC	0.562000														62			31		0	0	0.000339439	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871441	51871441	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:51871441G>A	uc002xwo.3	+	1	2331	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	TSHZ2_uc021wex.1_Missense_Mutation_p.E479K	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	482					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CGTGAAAAGCGAGGACTATGA	0.428000														99			36		0	0	0.000814825	0	0
PIPOX	51268	broad.mit.edu	37	17	27383231	27383231	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:27383231C>T	uc002hdr.1	+	7	1407	c.1081C>T	c.(1081-1083)Ctg>Ttg	p.L361L		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	Homo sapiens pipecolic acid oxidase (PIPOX), mRNA.	361					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	GGGGAAGATCCTGTATGAATT	0.522000														46			18		0	0	0.000958276	0	0
CRB2	286204	broad.mit.edu	37	9	126125453	126125453	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:126125453C>T	uc004bnx.1	+	1	496	c.404C>T	c.(403-405)cCc>cTc	p.P135L	CRB2_uc004bnw.1_Missense_Mutation_p.P135L	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	135	EGF-like 2; calcium-binding (Potential).					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						TGCCATTGCCCCCTTGGCTAT	0.622000														14			4		0	0	0.00024832	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174680	207174680	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:207174680G>A	uc002vbp.2	+	4	5678	c.5428G>A	c.(5428-5430)Gat>Aat	p.D1810N		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1810							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						TGTCATAGAGGATAATCCTGA	0.393000														54			34		0	0	0.00058488	0	0
MYO3A	53904	broad.mit.edu	37	10	26241128	26241128	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:26241128G>A	uc001isn.2	+	2	449	c.89G>A	c.(88-90)gGa>gAa	p.G30E	MYO3A_uc009xko.1_Missense_Mutation_p.G30E|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.G30E|MYO3A_uc001ism.2_Missense_Mutation_p.G30E	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	30	Protein kinase.				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						ATTGGCAAAGGAACTTATGGG	0.323000														33			19		0	0	0.000958276	0	0
SERPINA1	5265	broad.mit.edu	37	14	94849309	94849309	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:94849309G>A	uc001ycy.4	-	3	820	c.266C>T	c.(265-267)tCc>tTc	p.S89F	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Missense_Mutation_p.S89F|SERPINA1_uc010auy.3_Missense_Mutation_p.S89F|SERPINA1_uc001ycz.4_Missense_Mutation_p.S89F|SERPINA1_uc010auz.3_Missense_Mutation_p.S89F|SERPINA1_uc010ava.3_Missense_Mutation_p.S89F|SERPINA1_uc001ydb.4_Missense_Mutation_p.S89F|SERPINA1_uc010avb.3_Missense_Mutation_p.S89F|SERPINA1_uc001ydc.4_Missense_Mutation_p.S89F|SERPINA1_uc010auw.3_Missense_Mutation_p.S89F|SERPINA1_uc010aux.3_Missense_Mutation_p.S89F|SERPINA1_uc001yda.1_Missense_Mutation_p.S89F	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	89					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	GGTCCCCAGGGAGAGCATTGC	0.547000														72			32		0	0	0.000953801	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12888042	12888042	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:12888042C>T	uc002gnr.4	+	19	2461	c.2134C>T	c.(2134-2136)Ccc>Tcc	p.P712S	ARHGAP44_uc010vvk.2_Missense_Mutation_p.P712S|ARHGAP44_uc010vvl.2_Missense_Mutation_p.P706S|ARHGAP44_uc002gns.4_Missense_Mutation_p.P506S|ARHGAP44_uc010vvm.2_Missense_Mutation_p.P706S|ARHGAP44_uc010vvn.2_Non-coding_Transcript|ARHGAP44_uc021tqh.1_5'Flank	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	712					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TGCAGCTCCTCCCCTGGCCTC	0.647000														12			12		0	0	0.00136819	0	0
C12orf63	374467	broad.mit.edu	37	12	97114192	97114192	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:97114192C>T	uc021rcc.1	+	16	2167	c.2089C>T	c.(2089-2091)Ctg>Ttg	p.L697L				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	697										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						GTCGATGTTACTGATGGAAGC	0.443000														23			9		0	0	0.000274275	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52002861	52002861	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:52002861C>T	uc002pwx.1	-	2	974	c.918G>A	c.(916-918)acG>acA	p.T306T	SIGLEC12_uc002pww.1_Silent_p.T188T|SIGLEC12_uc010eoy.1_Silent_p.T33T	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	306	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding	p.T306M(1)		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)		TCCAGGTGATCGTGGGGGGCG	0.667000														26			18		0	0	0.000958276	0	0
MAGEE1	57692	broad.mit.edu	37	X	75648631	75648632	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chrX:75648631_75648632CC>TT	uc004ecm.2	+	0	586_587	c.308_309CC>TT	c.(307-309)tcc>tTT	p.S103F		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	103						dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTGGCACCTCCGTGCTGCCCA	0.683000														0			11		0	0	6.4e-05	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815088	106815088	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:106815088C>T	uc003ymd.3	+	7	2801	c.2778C>T	c.(2776-2778)tcC>tcT	p.S926S	ZFPM2_uc011lhs.2_Silent_p.S657S	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	926					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)			AGCAGCCTTCCCCCAATGGAA	0.428000														22			8		0	0	0.000157383	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111936842	111936842	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:111936842C>T	uc004bdz.1	-	25	2990	c.2695G>A	c.(2695-2697)Gaa>Aaa	p.E899K		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	899				E -> R (in Ref. 1; AAG43366).		cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	p.E899K(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTTCACAGTTCGGTCATCAAC	0.458000														40			11		0	0	0.000978159	0	0
NAA16	79612	broad.mit.edu	37	13	41932585	41932585	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr13:41932585C>A	uc001uyf.2	+	10	1557	c.1233C>A	c.(1231-1233)ttC>ttA	p.F411L	NAA16_uc010tfg.1_Non-coding_Transcript|NAA16_uc001uye.4_Missense_Mutation_p.F411L|NAA16_uc001uyd.4_3'UTR	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	Homo sapiens N(alpha)-acetyltransferase 16, NatA auxiliary subunit (NAA16), transcript variant 1, mRNA.	411					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TAGAATTATTCTATATGAAAG	0.318000														67			12		4.3838e-07	2.9377e-06	0.000151284	1	0
KIAA0020	9933	broad.mit.edu	37	9	2837296	2837296	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:2837296T>C	uc003zhp.1	-	2	284	c.188A>G	c.(187-189)aAg>aGg	p.K63R	KIAA0020_uc003zhq.1_Missense_Mutation_p.K63R	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	63						endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTTTACACCCTTTTTCCCAAG	0.388000														182			5		0	0	0.000602214	0	0
EIF2C1	26523	broad.mit.edu	37	1	36358768	36358768	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:36358768C>T	uc001bzl.3	+	3	614	c.401C>T	c.(400-402)gCc>gTc	p.A134V	EIF2C1_uc001bzk.3_Missense_Mutation_p.A59V|EIF2C1_uc009vuy.3_5'Flank	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	134					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAGTGGCTAGCCATTGTGAGC	0.557000														12			14		0	0	0.000219431	0	0
TG	7038	broad.mit.edu	37	8	133900398	133900398	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:133900398C>T	uc003ytw.3	+	9	2387	c.2346C>T	c.(2344-2346)ttC>ttT	p.F782F		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	782	Thyroglobulin type-1 7.				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)		AGCAGGTCTTCGAGTTGTACC	0.562000														19			4		0	0	0.00024832	0	0
COL19A1	1310	broad.mit.edu	37	6	70847578	70847578	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:70847578G>A	uc003pfc.1	+	19	1501	c.1384_splice	c.e19-1	p.G462_splice	COL19A1_uc010kam.2_Splice_Site_p.G358_splice	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	462	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCTTGAAAGGGTGAAACTGGA	0.408000														88			28		0	0	0.000814825	0	0
DMXL2	23312	broad.mit.edu	37	15	51828531	51828531	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:51828531G>A	uc010ufy.2	-	11	2371	c.2146C>T	c.(2146-2148)Cat>Tat	p.H716Y	DMXL2_uc002abf.3_Missense_Mutation_p.H716Y|DMXL2_uc010bfa.3_Missense_Mutation_p.H716Y	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	716						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TTTGGGTCATGAAATGTACGA	0.393000														75			81		0	0	0.000781405	0	0
SVOPL	136306	broad.mit.edu	37	7	138333801	138333801	+	Missense_Mutation	SNP	G	A	A	rs143755972	byFrequency	TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:138333801G>A	uc011kqh.2	-	6	616	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	SVOPL_uc003vue.3_Missense_Mutation_p.R54C	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	206						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GAGGCGACGCGAATGAGCCAG	0.612000														39			17		0	0	0.000566183	0	0
ELP4	26610	broad.mit.edu	37	11	31531334	31531334	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:31531334G>A	uc001mtc.3	+	0	38	c.3G>A	c.(1-3)atG>atA	p.M1I	IMMP1L_uc001msy.1_5'Flank|IMMP1L_uc001msz.1_5'Flank|ELP4_uc001mtb.3_Missense_Mutation_p.M1I|ELP4_uc010rdz.2_Missense_Mutation_p.M1I|IMMP1L_uc009yjo.3_5'Flank|IMMP1L_uc009yjp.3_5'Flank			Q96EB1	ELP4_HUMAN	Homo sapiens elongation protein 4 homolog (S. cerevisiae) (ELP4), mRNA.	1					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|cytoplasm|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GCTCTAAGATGGCGGCAGTGG	0.592000														33			6		0	0	0.00116845	0	0
FOCAD	54914	broad.mit.edu	37	9	20990133	20990133	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:20990133C>T	uc003zog.1	+	43	5379	c.5016C>T	c.(5014-5016)ttC>ttT	p.F1672F	FOCAD_uc003zoh.1_Silent_p.F1108F	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	1672						integral to membrane	binding										CTTTGGACTTCTTCTTGCTGA	0.478000														21			40		0	0	0.000781405	0	0
NOS1AP	9722	broad.mit.edu	37	1	162325117	162325117	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:162325117G>A	uc001gbv.2	+	6	1123	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	NOS1AP_uc010pkr.1_Missense_Mutation_p.E241K|NOS1AP_uc001gbw.2_Missense_Mutation_p.E241K|NOS1AP_uc010pks.1_Non-coding_Transcript	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	246					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			TGTAGGGAAGGAAGGAGGCTC	0.557000														92			24		0	0	0.000878237	0	0
FAM104A	84923	broad.mit.edu	37	17	71228278	71228278	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:71228278C>T	uc002jjj.4	-	0	256	c.168G>A	c.(166-168)gcG>gcA	p.A56A	FAM104A_uc002jji.4_Silent_p.A56A|C17orf80_uc010wqu.1_5'Flank|C17orf80_uc010dfj.3_5'Flank|C17orf80_uc002jjk.1_5'Flank|C17orf80_uc002jjm.4_5'Flank|C17orf80_uc002jjl.4_5'Flank	NM_001098832	NP_001092302	Q969W3	F104A_HUMAN	Homo sapiens family with sequence similarity 104, member A (FAM104A), transcript variant 1, mRNA.	56										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TACGCGGCGCCGCTCCGCGAA	0.701000														20			8		0	0	0.000442599	0	0
FZR1	51343	broad.mit.edu	37	19	3527749	3527749	+	Silent	SNP	C	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:3527749C>A	uc010dtk.2	+	5	625	c.591C>A	c.(589-591)tcC>tcA	p.S197S	FZR1_uc002lxt.2_Silent_p.S197S|FZR1_uc002lxv.2_Intron	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.	197					DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTGGTCGTCCCTCAATGTGC	0.632000														26			12		4.3838e-07	2.9377e-06	0.000151284	1	0
NELL1	4745	broad.mit.edu	37	11	20869158	20869158	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:20869158G>T	uc009yid.3	+	4	602	c.449G>T	c.(448-450)aGg>aTg	p.R150M	NELL1_uc010rdp.2_Intron|NELL1_uc001mqe.3_Missense_Mutation_p.R122M|NELL1_uc001mqf.3_Missense_Mutation_p.R122M|NELL1_uc010rdo.2_Intron	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	122	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGTGGCCTGAGGGATGAGATT	0.448000														21			6		0.000442599	0.00294284	0.000442599	1	0
ZNF831	128611	broad.mit.edu	37	20	57766753	57766753	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:57766753G>A	uc002yan.3	+	0	679	c.679G>A	c.(679-681)Gag>Aag	p.E227K		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	227						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)					CCCCAGACCAGAGGGCAGGGG	0.692000														43			15		0	0	0.000308642	0	0
METTL17	64745	broad.mit.edu	37	14	21463363	21463363	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:21463363C>T	uc001vyo.3	+	9	1113	c.916C>T	c.(916-918)Ctc>Ttc	p.L306F	METTL17_uc001vym.3_Missense_Mutation_p.L306F|METTL17_uc001vyn.3_Missense_Mutation_p.L306F	NM_001029991	NP_001025162	Q9H7H0	MET17_HUMAN	Homo sapiens methyltransferase like 17 (METTL17), transcript variant 1, mRNA.	306					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						GCACAGCCTTCTCATGGATGC	0.448000														137			71		0	0	0.000781405	0	0
PIGO	84720	broad.mit.edu	37	9	35095429	35095429	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:35095429G>A	uc003zwd.3	-	1	530	c.134C>T	c.(133-135)cCa>cTa	p.P45L	PIGO_uc003zwe.3_Missense_Mutation_p.P45L|PIGO_uc003zwf.3_Missense_Mutation_p.P45L|PIGO_uc003zwc.1_Missense_Mutation_p.P45L|PIGO_uc003zwg.2_5'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	45					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCCAGGGCCTGGGGGCTCTTG	0.607000														6			20		0	0	0.000295444	0	0
CBLC	23624	broad.mit.edu	37	19	45284596	45284596	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:45284596C>T	uc002ozs.3	+	2	696	c.633C>T	c.(631-633)ttC>ttT	p.F211F	CBLC_uc010ejt.3_Silent_p.F211F	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	211	Cbl-PTB.|EF-hand-like.				cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				TCTTCGAGTTCGACGTCTTCA	0.612000			M		AML									237			67		0	0	0.000781405	0	0
MYO9A	4649	broad.mit.edu	37	15	72227785	72227785	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:72227785G>A	uc002atl.4	-	16	2892	c.2419C>T	c.(2419-2421)Cgc>Tgc	p.R807C	MYO9A_uc010biq.3_Missense_Mutation_p.R427C|MYO9A_uc002atn.1_Missense_Mutation_p.R788C	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	807					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTGCTCTGGCGAATCCCAGTT	0.388000														29			64		0	0	0.000781405	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962567	69962567	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:69962567C>T	uc003heg.4	+	0	375	c.329C>T	c.(328-330)tCa>tTa	p.S110L	UGT2B7_uc010ihq.3_Missense_Mutation_p.S110L	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	110					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTATATTTTTCACAAGTACAG	0.303000														31			14		0	0	0.000219431	0	0
ANKRD50	57182	broad.mit.edu	37	4	125631414	125631414	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:125631414C>T	uc010inw.3	-	1	1291	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	ANKRD50_uc011cgo.2_Intron	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	85								p.T84R(1)		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						GTACATAGGGCCGTCTTGCCA	0.502000														39			11		0	0	0.000151284	0	0
TUT1	64852	broad.mit.edu	37	11	62343079	62343079	+	Silent	SNP	G	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:62343079G>T	uc001nto.2	-	8	2264	c.2226C>A	c.(2224-2226)gcC>gcA	p.A742A	EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	Homo sapiens terminal uridylyl transferase 1, U6 snRNA-specific (TUT1), mRNA.	704					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|RNA uridylyltransferase activity|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGCTCTGCATGGCCCAGTCCT	0.637000														213			9		0.000442599	0.00294284	0.000442599	1	0
ACVR2A	92	broad.mit.edu	37	2	148657389	148657389	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:148657389T>G	uc002twg.3	+	4	719	c.450T>G	c.(448-450)atT>atG	p.I150M	ACVR2A_uc010zbn.2_Missense_Mutation_p.I42M|ACVR2A_uc002twh.3_Missense_Mutation_p.I150M	NM_001616	NP_001607	P27037	AVR2A_HUMAN	Homo sapiens activin A receptor, type IIA (ACVR2A), mRNA.	150					BMP signaling pathway|activin receptor signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TTATGTTAATTGCGGGGATTG	0.438000														106			69		0	0	0.000781405	0	0
FAM5B	57795	broad.mit.edu	37	1	177226401	177226401	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:177226401G>A	uc001glf.3	+	3	862	c.550G>A	c.(550-552)Ggg>Agg	p.G184R	FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.3_Missense_Mutation_p.G79R	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	184						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						CGGGGGCAGTGGGAACAGCAC	0.552000														38			26		0	0	0.00106085	0	0
FLRT3	23767	broad.mit.edu	37	20	14306629	14306629	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:14306629G>A	uc021war.1	-	0	1524	c.1524C>T	c.(1522-1524)aaC>aaT	p.N508N	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Silent_p.N508N|FLRT3_uc002wow.2_Silent_p.N508N	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	508					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TGGTTGTAGGGTTGTACATTC	0.458000														70			42		0	0	0.000509022	0	0
KDELR3	11015	broad.mit.edu	37	22	38870562	38870562	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr22:38870562C>T	uc003avu.3	+	1	282	c.126C>T	c.(124-126)ctC>ctT	p.L42L	KDELR3_uc003avv.3_Silent_p.L42L	NM_016657	NP_057839	O43731	ERD23_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 (KDELR3), transcript variant 2, mRNA.	42				L -> P (in Ref. 4; BAD96650).	protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					TGTTTGCTCTCGTCTTCACCA	0.552000														53			46		0	0	0.000781405	0	0
UNC5C	8633	broad.mit.edu	37	4	96137290	96137290	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:96137290C>T	uc003hto.3	-	9	2071	c.1718G>A	c.(1717-1719)aGg>aAg	p.R573K	UNC5C_uc010ilc.2_Missense_Mutation_p.R592K|UNC5C_uc003htq.3_Missense_Mutation_p.R592K	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	573	ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AGTTTCTTTCCTGTGTACAGT	0.418000														39			11		0	0	0.000978159	0	0
GCFC2	6936	broad.mit.edu	37	2	75929487	75929487	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:75929487G>A	uc002sno.3	-	2	587	c.457C>T	c.(457-459)Caa>Taa	p.Q153*	GCFC2_uc010ffs.3_5'Flank|GCFC2_uc002snn.3_5'UTR|GCFC2_uc010fft.3_5'UTR|GCFC2_uc002snp.4_Nonsense_Mutation_p.Q153*	NM_003203	NP_001188263	P16383	GCF_HUMAN	Homo sapiens GC-rich sequence DNA-binding factor 2 (GCFC2), transcript variant 1, mRNA.	153					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										TAGTCATCTTGGGCCCTGGCC	0.458000														37			28		0	0	0.000878237	0	0
ARMC2	84071	broad.mit.edu	37	6	109225519	109225519	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:109225519G>A	uc003pss.4	+	7	1108	c.934G>A	c.(934-936)Gga>Aga	p.G312R	ARMC2_uc011eao.2_Missense_Mutation_p.G147R	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	Homo sapiens armadillo repeat containing 2 (ARMC2), mRNA.	312							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)		TAAATTTAAGGGAAGAAGTAT	0.383000														87			55		0	0	0.000781405	0	0
CDK18	5129	broad.mit.edu	37	1	205493436	205493436	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:205493436G>A	uc001hcr.3	+	3	702	c.440G>A	c.(439-441)aGc>aAc	p.S147N	CDK18_uc009xbl.2_Non-coding_Transcript|CDK18_uc010pri.2_Silent_p.E137E|CDK18_uc001hcp.3_Missense_Mutation_p.S117N|CDK18_uc001hcq.3_Missense_Mutation_p.S117N|CDK18_uc010prj.2_Missense_Mutation_p.S28N|CDK18_uc001hcs.3_Missense_Mutation_p.S28N|CDK18_uc009xbm.1_Missense_Mutation_p.S28N	NM_212503	NP_997668	Q07002	CDK18_HUMAN	Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA.	115	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						CAGATGGAGAGCCCAGATCTG	0.617000											OREG0014156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		102			21		0	0	0.000586117	0	0
CNPPD1	27013	broad.mit.edu	37	2	220038173	220038173	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:220038173C>T	uc002vju.4	-	6	741	c.589G>A	c.(589-591)Gga>Aga	p.G197R	CNPPD1_uc002vjv.3_Missense_Mutation_p.G197R	NM_015680	NP_056495	Q9BV87	CNPD1_HUMAN	Homo sapiens cyclin Pas1/PHO80 domain containing 1 (CNPPD1), mRNA.	197					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						CGCCACCGTCCCTGCTGCTCA	0.617000														24			16		0	0	0.000308642	0	0
TPTE	7179	broad.mit.edu	37	21	10952951	10952951	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr21:10952951C>T	uc002yip.1	-	8	614	c.246G>A	c.(244-246)aaG>aaA	p.K82K	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.K64K|TPTE_uc002yir.1_Silent_p.K44K|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	82					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.F82L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCACAATTTTCTTAATCTTGC	0.308000														61			10		0	0	0.00136819	0	0
CYLC2	1539	broad.mit.edu	37	9	105767007	105767007	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:105767007C>T	uc004bbs.2	+	3	281	c.211C>T	c.(211-213)Cgt>Tgt	p.R71C		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	71	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.R71C(4)		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)				AAGAGGAGATCGTAGACAACC	0.363000														15			22		0	0	0.000586117	0	0
TPO	7173	broad.mit.edu	37	2	1497795	1497795	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:1497795C>T	uc002qwr.3	+	10	2076	c.1990C>T	c.(1990-1992)Ctg>Ttg	p.L664L	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Silent_p.L664L|TPO_uc002qwx.3_Silent_p.L607L|TPO_uc002qwu.3_Silent_p.L607L|TPO_uc010yio.2_Silent_p.L491L|TPO_uc010yip.2_Silent_p.L664L|TPO_uc002qwy.1_Silent_p.L4L|TPO_uc002qwz.3_Non-coding_Transcript	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	664					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GATGAAGGCTCTGCGGGACGG	0.582000														30			10		0	0	0.00136819	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77331198	77331198	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:77331198G>A	uc002ffc.4	-	17	3208	c.2789C>T	c.(2788-2790)tCc>tTc	p.S930F	ADAMTS18_uc010chc.1_Missense_Mutation_p.S518F|ADAMTS18_uc002ffe.1_Missense_Mutation_p.S626F	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	930					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						AGCCGGGCAGGAGAAAGCGTT	0.403000														40			25		0	0	0.000878237	0	0
CD5L	922	broad.mit.edu	37	1	157805893	157805893	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:157805893C>T	uc001frk.4	-	2	251	c.108G>A	c.(106-108)cgG>cgA	p.R36R		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	36	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.R36W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCACCTCCACCCGCCCTTCAC	0.632000														58			21		0	0	0.00152264	0	0
OR9A4	130075	broad.mit.edu	37	7	141618751	141618751	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:141618751C>A	uc003vwu.1	+	0	76	c.76C>A	c.(76-78)Ctt>Att	p.L26I		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					ACATCATATCCTTTTTGCTAT	0.393000														279			9		0.000673444	0.00444995	0.000673444	1	0
HHLA2	11148	broad.mit.edu	37	3	108076967	108076967	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:108076967C>T	uc003dwz.3	+	5	1376	c.962C>T	c.(961-963)tCg>tTg	p.S321L	HHLA2_uc011bhl.2_Missense_Mutation_p.S257L|HHLA2_uc010hpu.3_Missense_Mutation_p.S321L|HHLA2_uc003dwy.4_Missense_Mutation_p.S321L	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	321	Ig-like V-type 2.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						AATATTTCTTCGGATGAATAT	0.368000														33			14		0	0	0.000151284	0	0
FAT4	79633	broad.mit.edu	37	4	126336328	126336328	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:126336328C>T	uc003ifj.4	+	4	6210	c.6210C>T	c.(6208-6210)ttC>ttT	p.F2070F	FAT4_uc011cgp.2_Silent_p.F368F	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2070	Cadherin 20.				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						CTGTTGTTTTCAAAGCTCAAG	0.393000														78			53		0	0	0.000781405	0	0
GOLGA6C	653641	broad.mit.edu	37	15	75562412	75562412	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:75562412G>A	uc002azs.2	+	18	1996	c.1955_splice	c.e18-1	p.D652_splice	DQ582071_uc002azu.1_5'Flank|DQ577530_uc010ulz.1_5'Flank	NM_001164404	NP_001157876	A6NDK9	GOG6C_HUMAN	Homo sapiens golgin A6 family, member C (GOLGA6C), mRNA.	652										ovary(1)	1						TCTCTCCGAAGATTTTTATGA	0.637000														51			8		0	0	0.000878237	0	0
IVD	3712	broad.mit.edu	37	15	40705279	40705279	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:40705279G>A	uc001zls.3	+	6	1120	c.786G>A	c.(784-786)aaG>aaA	p.K262K	IVD_uc001zlq.2_Silent_p.K232K|IVD_uc001zlr.2_5'Flank	NM_002225	NP_002216	P26440	IVD_HUMAN	Homo sapiens isovaleryl-CoA dehydrogenase (IVD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	259					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		AAGACTGCAAGATTCCTGGTA	0.527000														38			11		0	0	0.000978159	0	0
RADIL	55698	broad.mit.edu	37	7	4917240	4917240	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:4917240C>T	uc003snj.1	-	1	704	c.531G>A	c.(529-531)acG>acA	p.T177T	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc011jwd.1_Non-coding_Transcript	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	177					cell adhesion|multicellular organismal development|signal transduction		protein binding	p.T177I(2)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CCTCACCTGCCGTGATGGTGT	0.612000														47			11		0	0	0.000219431	0	0
TMEM132E	124842	broad.mit.edu	37	17	32963172	32963172	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:32963172C>T	uc002hif.3	+	8	2182	c.1854C>T	c.(1852-1854)atC>atT	p.I618I		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	618						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCCACACCATCCTAGCCACCA	0.622000														12			10		0	0	0.000151284	0	0
IRAK2	3656	broad.mit.edu	37	3	10280549	10280549	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:10280549G>A	uc003bve.1	+	11	1667	c.1591G>A	c.(1591-1593)Gac>Aac	p.D531N		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	531					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	p.D531N(3)		breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GGAAACAGACGACGTTGACAA	0.597000														36			18		0	0	0.000229342	0	0
ANKS1B	56899	broad.mit.edu	37	12	100200442	100200442	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:100200442G>A	uc001tge.2	-	3	826	c.409C>T	c.(409-411)Caa>Taa	p.Q137*	ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Nonsense_Mutation_p.Q137*	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	137						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)		TGTCCATATTGAGCTGCACAG	0.383000														36			15		0	0	0.000958276	0	0
CAMK2G	818	broad.mit.edu	37	10	75608802	75608802	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:75608802G>A	uc001jvv.2	-	6	592	c.462C>T	c.(460-462)atC>atT	p.I154I	CAMK2G_uc001jvs.2_Silent_p.I162I|CAMK2G_uc001jvm.2_Silent_p.I162I|CAMK2G_uc001jvo.2_Silent_p.I162I|CAMK2G_uc001jvp.2_Silent_p.I162I|CAMK2G_uc001jvq.2_Silent_p.I162I|CAMK2G_uc001jvr.2_Silent_p.I162I|CAMK2G_uc001jvt.2_Non-coding_Transcript|CAMK2G_uc010qkv.2_Intron	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II gamma (CAMK2G), transcript variant 1, mRNA.	162	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					CCTGTACTTCGATGGCTAGGC	0.562000											OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		33			15		0	0	0.000958276	0	0
abParts	0	broad.mit.edu	37	14	106586249	106586249	+	RNA	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:106586249G>A	uc021ser.1	-	1811		c.34047C>T			abParts_uc001ysv.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CACGGAGCCTGGATAGTATGT	0.517000														50			27		0	0	0.00106085	0	0
MYH1	4619	broad.mit.edu	37	17	10408497	10408497	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:10408497C>T	uc002gmo.3	-	20	2512	c.2418G>A	c.(2416-2418)caG>caA	p.Q806Q	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	806	IQ.					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						CCACCATTTTCTGGTACTCCA	0.428000														45			23		0	0	0.000586117	0	0
DPEP2	64174	broad.mit.edu	37	16	68021586	68021586	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:68021586G>A	uc010cey.3	-	9	1448	c.1284C>T	c.(1282-1284)tcC>tcT	p.S428S	DPEP2_uc002eve.3_Silent_p.S428S|DPEP2_uc002evf.3_Non-coding_Transcript	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN	Homo sapiens dipeptidase 2 (DPEP2), mRNA.	428					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		GTGAGAGGTCGGAGTGGCAGG	0.547000														37			28		0	0	0.00178596	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143756	61143756	+	RNA	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:61143756G>A	uc021wfy.1	-	0		c.127C>T			C20orf166-AS1_uc002ycy.3_Non-coding_Transcript|C20orf166-AS1_uc002ycz.2_Non-coding_Transcript					Homo sapiens chromosome 20 open reading frame 200, mRNA (cDNA clone MGC:120891 IMAGE:7939701), complete cds.																		CTTGGCTTCCGAGAAACCGCT	0.667000														76			26		0	0	0.00047179	0	0
EPDR1	54749	broad.mit.edu	37	7	37960619	37960619	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:37960619C>T	uc003tfp.3	+	0	457	c.438C>T	c.(436-438)acC>acT	p.T146T	EPDR1_uc003tfq.3_Silent_p.T26T|EPDR1_uc010kxh.3_5'Flank	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	Homo sapiens ependymin related protein 1 (zebrafish) (EPDR1), transcript variant 1, mRNA.	26					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						GGGCCTGGACCCTGTGCGGCC	0.761000														10			6		0	0	0.00116845	0	0
ACACA	31	broad.mit.edu	37	17	35620751	35620751	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:35620751G>C	uc002hnm.3	-	10	1246	c.1055C>G	c.(1054-1056)gCc>gGc	p.A352G	ACACA_uc002hnk.3_Missense_Mutation_p.A274G|ACACA_uc002hnl.3_Missense_Mutation_p.A294G|ACACA_uc002hnn.3_Missense_Mutation_p.A352G|ACACA_uc002hno.3_Missense_Mutation_p.A389G|ACACA_uc010cuz.3_Missense_Mutation_p.A352G	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	352	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AGATTGTTTGGCTAGTCTCAT	0.398000														36			32		0	0	0.000692331	0	0
ERMAP	114625	broad.mit.edu	37	1	43296563	43296563	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:43296563C>T	uc001cic.1	+	3	480	c.210C>T	c.(208-210)ttC>ttT	p.F70F	ERMAP_uc010ojw.1_Silent_p.F131F|ERMAP_uc001cid.1_Intron|ERMAP_uc001cie.1_Silent_p.F70F|ERMAP_uc001cif.1_5'UTR	NM_001017922	NP_061008	Q96PL5	ERMAP_HUMAN	Homo sapiens erythroblast membrane-associated protein (Scianna blood group) (ERMAP), transcript variant 1, mRNA.	70	Ig-like V-type.					integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGTCCCCATTCCCGCAGCGCT	0.622000														7			9		0	0	0.000673444	0	0
TRIML2	205860	broad.mit.edu	37	4	189022313	189022313	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:189022313C>T	uc011cle.1	-	2	599	c.377G>A	c.(376-378)aGa>aAa	p.R126K	TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc003izl.2_Missense_Mutation_p.R76K|TRIML2_uc011clf.1_Missense_Mutation_p.R126K	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	76							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)		TTCCTGCTGTCTCTGGAGATT	0.428000														22			31		0	0	0.00058488	0	0
LILRB1	10859	broad.mit.edu	37	19	55143633	55143633	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:55143633G>A	uc002qgj.3	+	5	946	c.606G>A	c.(604-606)tcG>tcA	p.S202S	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.S202S|LILRB1_uc002qgk.3_Silent_p.S202S|LILRB1_uc002qgm.3_Silent_p.S202S|LILRB1_uc010erq.3_Silent_p.S202S|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.	202	Ig-like C2-type 2.				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)		CTTATGACTCGAACTCTCCCT	0.602000										HNSCC(37;0.09)				61			17		0	0	0.00121646	0	0
B3GNT1	11041	broad.mit.edu	37	11	66113990	66113990	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:66113990G>A	uc001ohr.3	-	0	1172	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank|TRNA_Ser_uc021qlw.1_5'Flank	NM_006876	NP_006867	O43505	B3GN1_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1), mRNA.	343					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						CCGTACTGCCGAAAGCGCTCG	0.622000														33			23		0	0	0.000878237	0	0
OR5M10	390167	broad.mit.edu	37	11	56344979	56344979	+	Silent	SNP	A	G	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:56344979A>G	uc001niz.1	-	0	219	c.219T>C	c.(217-219)taT>taC	p.Y73Y	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						CATTGGAAGAATAGCAAATGT	0.463000														62			19		0	0	0.00121646	0	0
PNMA2	10687	broad.mit.edu	37	8	26365944	26365944	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:26365944G>A	uc022atc.1	-	0	328	c.328C>T	c.(328-330)Cta>Tta	p.L110L	PNMA2_uc003xez.2_Silent_p.L110L	NM_007257	NP_009188	Q9UL42	PNMA2_HUMAN	Homo sapiens paraneoplastic antigen MA2 (PNMA2), mRNA.	110					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		tctttttctagaaacaggttc	0.542000														44			9		0	0	0.000274275	0	0
LRRK2	120892	broad.mit.edu	37	12	40704392	40704392	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:40704392G>A	uc001rmg.4	+	30	4598	c.4477G>A	c.(4477-4479)Gaa>Aaa	p.E1493K	LRRK2_uc009zjw.3_Missense_Mutation_p.E331K|LRRK2_uc001rmi.3_Missense_Mutation_p.E326K	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1493	Roc.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.E1493E(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGCCACCGAGGAATCTGATGC	0.428000														222			72		0	0	0.000781405	0	0
DNAH5	1767	broad.mit.edu	37	5	13714555	13714555	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:13714555C>T	uc003jfd.2	-	74	13126	c.13084G>A	c.(13084-13086)Gat>Aat	p.D4362N	DNAH5_uc003jfc.2_Missense_Mutation_p.D530N	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4362					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)					TCCAGCATATCATCAGCCAGC	0.572000									Kartagener syndrome					45			30		0	0	0.000692331	0	0
SYNJ2	8871	broad.mit.edu	37	6	158505156	158505156	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:158505156C>T	uc003qqx.2	+	21	3264	c.3158C>T	c.(3157-3159)cCc>cTc	p.P1053L	SYNJ2_uc003qqw.2_Missense_Mutation_p.P1053L|SYNJ2_uc003qqy.2_Missense_Mutation_p.P816L|SYNJ2_uc003qqz.2_Missense_Mutation_p.P670L|SYNJ2_uc003qra.2_Missense_Mutation_p.P396L	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1053							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTGGCTCCTCCCAGCAAGTCA	0.557000														82			30		0	0	0.000409698	0	0
SLC22A1	6580	broad.mit.edu	37	6	160557602	160557602	+	Silent	SNP	C	G	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:160557602C>G	uc003qtc.3	+	5	1086	c.981C>G	c.(979-981)acC>acG	p.T327T	SLC22A1_uc003qtd.3_Silent_p.T327T	NM_003057	NP_003048	O15245	S22A1_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 1 (SLC22A1), transcript variant 1, mRNA.	327						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		AGGATGTCACCGAAAAGCTGA	0.607000														57			21		0	0	0.000295444	0	0
C1QTNF1	114897	broad.mit.edu	37	17	77039962	77039962	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:77039962C>T	uc002jwt.3	+	0	288	c.206C>T	c.(205-207)cCc>cTc	p.P69L	C1QTNF1_uc002jwp.3_Intron|C1QTNF1_uc002jwq.3_Intron|C1QTNF1_uc002jwr.4_Intron|C1QTNF1_uc002jws.3_Intron	NM_198594	NP_940996	Q9BXJ1	C1QT1_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 1 (C1QTNF1), mRNA.	0						collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			TGTTTCTCTCCCCAATTTTCA	0.562000														17			16		0	0	0.000422831	0	0
CABP1	9478	broad.mit.edu	37	12	121098114	121098114	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:121098114C>T	uc001tyu.3	+	2	868	c.801C>T	c.(799-801)atC>atT	p.I267I	CABP1_uc001tyv.3_Silent_p.I124I|CABP1_uc001tyw.3_Silent_p.I64I|CABP1_uc001tyx.3_Silent_p.I109I	NM_001033677	NP_001028849	Q9NZU7	CABP1_HUMAN	Homo sapiens calcium binding protein 1 (CABP1), transcript variant 3, mRNA.	267	EF-hand 2.					Golgi apparatus|cell cortex|cell junction|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGGAGCTCATCGAACTGTCCC	0.567000														138			104		0	0	0.000781405	0	0
CA5A	763	broad.mit.edu	37	16	87938439	87938439	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:87938439C>T	uc002fkn.1	-	2	468	c.412G>A	c.(412-414)Gag>Aag	p.E138K		NM_001739	NP_001730	P35218	CAH5A_HUMAN	Homo sapiens carbonic anhydrase VA, mitochondrial (CA5A), nuclear gene encoding mitochondrial protein, mRNA.	138					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		GAGCCCCCCTCGTTCACTGCT	0.547000														50			15		0	0	0.000308642	0	0
PLA2R1	22925	broad.mit.edu	37	2	160798644	160798644	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:160798644C>T	uc002ube.2	-	28	4383	c.4171G>A	c.(4171-4173)Gaa>Aaa	p.E1391K	PLA2R1_uc010zcp.2_Missense_Mutation_p.E1389K	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	1391					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.P1390A(1)	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						GTACCTTTTTCTGGCAGCGCC	0.308000														45			20		0	0	0.000586117	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	118839	118839	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chrGL000209.1:118839C>T	uc010yie.2	+	2	327	c.316C>T	c.(316-318)Cac>Tac	p.H106Y	KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc002qty.3_Missense_Mutation_p.H103Y|KIR2DL2_uc002qum.3_Missense_Mutation_p.H106Y	NM_014512	NP_055327	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA.	106	Ig-like C2-type 1.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										TTCTGTTACTCACTCCCCCTA	0.512000														135			46		0	0	0.000781405	0	0
OPN5	221391	broad.mit.edu	37	6	47754302	47754302	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:47754302G>A	uc003ozc.3	+	1	210	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	OPN5_uc003ozd.3_5'Flank	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	Homo sapiens opsin 5 (OPN5), transcript variant 1, mRNA.	61					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TCTTCTAGACGAAAGAAGAAG	0.378000														45			27		0	0	0.000586117	0	0
PMFBP1	83449	broad.mit.edu	37	16	72184683	72184683	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:72184683C>T	uc002fcc.4	-	4	632	c.460G>A	c.(460-462)Ggg>Agg	p.G154R	PMFBP1_uc002fcd.3_Missense_Mutation_p.G154R|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.G9R	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	154										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AGCTTCTCCCCTGTGTTCTCG	0.493000														45			36		0	0	0.00170553	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623513	21623513	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:21623513G>A	uc010tlp.2	-	0	672	c.672C>T	c.(670-672)gtC>gtT	p.V224V		NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA.	224					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)		AGTGAGTGACGACATGAGCAC	0.488000														29			23		0	0	0.000720815	0	0
WNK3	65267	broad.mit.edu	37	X	54263502	54263502	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chrX:54263502G>A	uc004dtc.2	-	19	4936	c.4497C>T	c.(4495-4497)caC>caT	p.H1499H	WNK3_uc004dtd.2_Silent_p.H1452H	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	1452					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GTTCTTCGTGGTGTGGTAAGC	0.458000														28			76		0	0	0.000781405	0	0
TNIP2	79155	broad.mit.edu	37	4	2746636	2746636	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:2746636C>T	uc003gfg.2	-	3	781	c.694G>A	c.(694-696)Gcc>Acc	p.A232T	TNIP2_uc003gff.2_Missense_Mutation_p.A125T	NM_024309	NP_001154999	Q8NFZ5	TNIP2_HUMAN	Homo sapiens TNFAIP3 interacting protein 2 (TNIP2), transcript variant 1, mRNA.	232						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCCCTGCTGGCGTTGTAGCGC	0.612000														29			14		0	0	0.000219431	0	0
TRPV6	55503	broad.mit.edu	37	7	142569553	142569553	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:142569553C>T	uc003wbx.2	-	14	2314	c.2085G>A	c.(2083-2085)tgG>tgA	p.W695*	TRPV6_uc003wbw.1_Nonsense_Mutation_p.W481*|TRPV6_uc010lou.1_Nonsense_Mutation_p.W566*	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	695	Interaction with calmodulin.				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GAAGCCTTTCCCAATTGGCAC	0.577000														55			43		0	0	0.000374591	0	0
SLC13A3	64849	broad.mit.edu	37	20	45242182	45242182	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:45242182G>A	uc002xsf.2	-	1	334	c.294C>T	c.(292-294)atC>atT	p.I98I	SLC13A3_uc010ghn.2_Silent_p.I67I|SLC13A3_uc010zxx.2_5'UTR|SLC13A3_uc010zxw.2_Silent_p.I98I|SLC13A3_uc002xsg.2_Silent_p.I51I|SLC13A3_uc010gho.2_Silent_p.I51I|SLC13A3_uc002xsi.4_Silent_p.I51I	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	98						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)	CGCTGGCCATGATCAGCCCAC	0.577000														28			8		0	0	0.000157383	0	0
JPH3	57338	broad.mit.edu	37	16	87677904	87677904	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:87677904C>T	uc002fkd.3	+	1	677	c.423C>T	c.(421-423)ggC>ggT	p.G141G	JPH3_uc010vou.1_Non-coding_Transcript	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	Homo sapiens junctophilin 3 (JPH3), mRNA.	141	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TGCGCCAGGGCTACGGCGTCC	0.677000														32			26		0	0	0.00127121	0	0
SLC17A1	6568	broad.mit.edu	37	6	25799114	25799114	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:25799114G>A	uc003nfh.4	-	11	1419	c.1303C>T	c.(1303-1305)Ctg>Ttg	p.L435L	SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Silent_p.L435L|SLC17A1_uc010jqc.1_Silent_p.L379L	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	435					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						GCTGCCATCAGGATGAAGGTT	0.358000														34			16		0	0	0.000422831	0	0
BX648926	0	broad.mit.edu	37	17	72305577	72305577	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:72305577C>T	uc002jkh.1	-	0	353	c.158G>A	c.(157-159)gGa>gAa	p.G53E	DNAI2_uc002jkg.3_Intron|DNAI2_uc002jkf.3_Intron|DNAI2_uc010dfp.3_Intron|DNAI2_uc002jki.3_Intron					Homo sapiens mRNA; cDNA DKFZp686O0329 (from clone DKFZp686O0329).																		GGAGCCAGGTCCCGGCGTGGG	0.622000														11			6		0	0	0.00116845	0	0
LYZ	4069	broad.mit.edu	37	12	69746970	69746970	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:69746970C>T	uc001suw.2	+	3	473	c.418C>T	c.(418-420)Cgt>Tgt	p.R140C	LYZ_uc021ral.1_5'Flank	NM_000239	NP_000230	P61626	LYSC_HUMAN	Homo sapiens lysozyme (LYZ), mRNA.	140					cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding	p.R140S(4)		endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			CAGAGATGTCCGTCAGTATGT	0.378000														84			21		0	0	0.000720815	0	0
GRIK3	2899	broad.mit.edu	37	1	37267569	37267569	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:37267569C>T	uc001caz.2	-	15	2778	c.2643G>A	c.(2641-2643)caG>caA	p.Q881Q		NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	881					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TCATGGGAGGCTGAGGCTTGT	0.592000														9			10		0	0	0.000673444	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764132	92764132	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:92764132C>T	uc003umh.1	-	4	2369	c.1153G>A	c.(1153-1155)Gga>Aga	p.G385R	SAMD9L_uc003umj.1_Missense_Mutation_p.G385R|SAMD9L_uc003umi.1_Missense_Mutation_p.G385R|SAMD9L_uc010lfb.1_Missense_Mutation_p.G385R|SAMD9L_uc003umk.1_Missense_Mutation_p.G385R|SAMD9L_uc010lfc.1_Missense_Mutation_p.G385R|SAMD9L_uc010lfd.1_Missense_Mutation_p.G385R|SAMD9L_uc022ahh.1_Missense_Mutation_p.G385R	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	385										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GCCTTCATTCCATACTCTTCT	0.393000														180			68		0	0	0.000781405	0	0
MRPS31	10240	broad.mit.edu	37	13	41345346	41345346	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	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														6			6		0	0	0.00116845	0	0
MBD5	55777	broad.mit.edu	37	2	149247862	149247862	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:149247862C>T	uc002twm.4	+	11	4959	c.3962C>T	c.(3961-3963)tCc>tTc	p.S1321F	MBD5_uc010zbs.2_Intron|MBD5_uc002two.3_Missense_Mutation_p.S579F|MBD5_uc002twp.3_Missense_Mutation_p.S371F	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1321						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TCTCCAAGTTCCTCAAATAGT	0.458000														31			17		0	0	0.000422831	0	0
CD86	942	broad.mit.edu	37	3	121774339	121774339	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:121774339G>A	uc003eet.3	+	0	131	c.3G>A	c.(1-3)atG>atA	p.M1I	CD86_uc011bjo.2_5'UTR|CD86_uc011bjp.2_Missense_Mutation_p.M1I	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	1					T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	CAGCCAAAATGGATCCCCAGT	0.453000														27			13		0	0	0.000219431	0	0
KCNJ9	3765	broad.mit.edu	37	1	160054185	160054185	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:160054185G>A	uc001fuy.1	+	1	607	c.365G>A	c.(364-366)gGc>gAc	p.G122D		NM_004983	NP_004974	Q92806	IRK9_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 9 (KCNJ9), mRNA.	122					synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACCACCATCGGCTACGGGCAC	0.657000														35			8		0	0	0.000157383	0	0
C22orf29	79680	broad.mit.edu	37	22	19838874	19838874	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr22:19838874G>A	uc002zqg.3	-	1	1510	c.911C>T	c.(910-912)tCg>tTg	p.S304L	GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.3_Missense_Mutation_p.S304L|C22orf29_uc002zqi.3_Missense_Mutation_p.S304L|C22orf29_uc021wli.1_Missense_Mutation_p.S304L	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN	Homo sapiens chromosome 22 open reading frame 29 (C22orf29), mRNA.	304	Pro-rich.									NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					AGCTGACTCCGACAGTCTAGG	0.587000														39			15		0	0	0.000308642	0	0
GSTCD	79807	broad.mit.edu	37	4	106766630	106766630	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:106766630C>T	uc003hxz.4	+	11	1870	c.1798C>T	c.(1798-1800)Cga>Tga	p.R600*	GSTCD_uc003hxy.4_Nonsense_Mutation_p.R513*|GSTCD_uc011cfb.2_Nonsense_Mutation_p.R223*	NM_001031720	NP_001026890	Q8NEC7	GSTCD_HUMAN	Homo sapiens glutathione S-transferase, C-terminal domain containing (GSTCD), transcript variant 1, mRNA.	600						cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		GGATCTGGATCGAGCAAGAGC	0.458000														35			12		0	0	0.00136819	0	0
ZNF417	147687	broad.mit.edu	37	19	58420358	58420358	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:58420358G>A	uc002qqq.3	-	2	1487	c.1288C>T	c.(1288-1290)Cac>Tac	p.H430Y	ZNF417_uc010yhm.2_Missense_Mutation_p.H387Y|ZNF417_uc002qqr.3_Missense_Mutation_p.H429Y	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	Homo sapiens zinc finger protein 417 (ZNF417), mRNA.	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		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;0.0151)		TCCCCAGTGTGAAGTCTCTGG	0.448000														33			14		0	0	0.000566183	0	0
OR5H2	79310	broad.mit.edu	37	3	98002360	98002360	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:98002360C>T	uc003dsj.1	+	0	629	c.629C>T	c.(628-630)tCa>tTa	p.S210L		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	210					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						TTGTCTGGCTCAATTCAGGTA	0.318000														40			9		0	0	0.000274275	0	0
ZMYND8	23613	broad.mit.edu	37	20	45927622	45927622	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:45927622G>A	uc010zxy.1	-	3	407	c.325C>T	c.(325-327)Ccg>Tcg	p.P109S	ZMYND8_uc010ghr.1_Intron|ZMYND8_uc002xst.1_Intron|ZMYND8_uc002xsu.1_Missense_Mutation_p.P82S|ZMYND8_uc002xsv.1_Intron|ZMYND8_uc002xsw.1_5'UTR|ZMYND8_uc002xsx.1_5'UTR|ZMYND8_uc002xsy.1_Intron|ZMYND8_uc002xsz.1_Intron|ZMYND8_uc002xta.1_Missense_Mutation_p.P82S|ZMYND8_uc002xtb.1_Missense_Mutation_p.P102S|ZMYND8_uc002xss.2_Intron|ZMYND8_uc010zxz.1_Intron|ZMYND8_uc002xtc.1_Missense_Mutation_p.P102S|ZMYND8_uc002xtd.1_Intron|ZMYND8_uc002xte.1_Missense_Mutation_p.P82S|ZMYND8_uc010zya.1_Missense_Mutation_p.P82S|ZMYND8_uc002xtf.1_Missense_Mutation_p.P102S|ZMYND8_uc002xtg.3_Intron|ZMYND8_uc010ghs.2_Intron|ZMYND8_uc002xth.3_Missense_Mutation_p.P102S	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	82							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)			CCATCCTGCGGTACAACATCA	0.483000														103			46		0	0	0.000781405	0	0
ZNF679	168417	broad.mit.edu	37	7	63726529	63726529	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:63726529G>A	uc003tsx.3	+	4	787	c.518G>A	c.(517-519)aGa>aAa	p.R173K		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	173					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						AATTCCAATAGACATAAGACA	0.303000														6			5		0	0	0.000602214	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41019027	41019027	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:41019027C>T	uc003jmj.4	-	24	3025	c.2535G>A	c.(2533-2535)ctG>ctA	p.L845L	HEATR7B2_uc003jmi.4_Silent_p.L400L	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	845							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						CTTCACTTTTCAGATTTTCCA	0.473000														27			16		0	0	0.000422831	0	0
ANKS1B	56899	broad.mit.edu	37	12	99640266	99640266	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:99640266C>T	uc001tge.2	-	12	2550	c.2133G>A	c.(2131-2133)gaG>gaA	p.E711E	ANKS1B_uc001tgf.2_Silent_p.E291E|ANKS1B_uc001tgk.3_Silent_p.E8E|ANKS1B_uc009ztt.1_Silent_p.E677E	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	711						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)		TACAGGCTCTCTCCACAAATC	0.468000														37			12		0	0	0.00136819	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128840253	128840253	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:128840253G>A	uc009zcp.3	-	21	4813	c.4813C>T	c.(4813-4815)Ccc>Tcc	p.P1605S	ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Missense_Mutation_p.P564S|ARHGAP32_uc001qez.3_Missense_Mutation_p.P1256S	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	1605	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TCATCTGGGGGAACTTCTGTC	0.532000														47			11		0	0	0.00136819	0	0
XRN2	22803	broad.mit.edu	37	20	21349172	21349172	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:21349172G>C	uc002wsf.1	+	26	2623	c.2528G>C	c.(2527-2529)gGa>gCa	p.G843A	XRN2_uc002wsg.1_Missense_Mutation_p.G767A|XRN2_uc010zsk.1_Missense_Mutation_p.G789A	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA.	843					DNA catabolic process, exonucleolytic|RNA catabolic process|cell growth|mRNA processing|regulation of transcription, DNA-dependent|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						ACTTACCAGGGAAACTTATAC	0.393000														113			41		0	0	0.000509022	0	0
SLC52A3	113278	broad.mit.edu	37	20	742387	742387	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:742387G>A	uc002wed.4	-	3	1494	c.1155C>T	c.(1153-1155)ccC>ccT	p.P385P	SLC52A3_uc002wee.2_Silent_p.P385P	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN	Homo sapiens chromosome 20 open reading frame 54 (C20orf54), mRNA.	385					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										AGAGGGGGCAGGGGCTCATCA	0.647000														13			7		0	0	8.12818e-05	0	0
VAT1L	57687	broad.mit.edu	37	16	77918616	77918616	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:77918616C>T	uc002ffg.1	+	6	1091	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	332							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GGGCCTCATTCGGGGAGTGGT	0.512000														14			12		0	0	0.00136819	0	0
DAAM2	23500	broad.mit.edu	37	6	39847153	39847153	+	Missense_Mutation	SNP	C	T	T	rs150676991	by1000genomes	TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:39847153C>T	uc003oow.3	+	13	1884	c.1745C>T	c.(1744-1746)cCt>cTt	p.P582L	DAAM2_uc010jxc.3_Missense_Mutation_p.P582L|DAAM2_uc003oox.3_Missense_Mutation_p.P582L	NM_001201427	NP_001188356	Q86T65	DAAM2_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 2 (DAAM2), transcript variant 1, mRNA.	582	FH1.|Pro-rich.				actin cytoskeleton organization		Rho GTPase binding|actin binding	p.L581F(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CTGCCCCTCCCTCAGGACCCC	0.652000														26			4		0	0	0.000602214	0	0
CBX8	57332	broad.mit.edu	37	17	77768994	77768995	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:77768994_77768995GG>AA	uc002jxd.2	-	4	727_728	c.609_610CC>TT	c.(607-612)ccccgg>ccTTgg	p.R204W		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	Homo sapiens chromobox homolog 8 (CBX8), mRNA.	204					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex|nuclear chromatin	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AGCTCCTTCCGGGGCTTGGGGC	0.673000														27			9		0	0	6.4e-05	0	0
ABCC8	6833	broad.mit.edu	37	11	17452441	17452441	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:17452441G>A	uc001mnc.3	-	11	1863	c.1737C>T	c.(1735-1737)tcC>tcT	p.S579S	ABCC8_uc010rcy.1_Silent_p.S578S	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	579	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGAGGGAGAGGGAGGCAAAGG	0.607000														348			91		0	0	0.000781405	0	0
ATP10A	57194	broad.mit.edu	37	15	26107818	26107818	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:26107818G>A	uc010ayu.3	-	0	532	c.426C>T	c.(424-426)caC>caT	p.H142H	ATP10A_uc001zax.3_Non-coding_Transcript	NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	142					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGCAGCCCAGGTGGTTGATCT	0.692000														9			9		0	0	0.000673444	0	0
MGAT5B	146664	broad.mit.edu	37	17	74868898	74868898	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:74868898C>T	uc002jti.3	+	0	170	c.67C>T	c.(67-69)Cct>Tct	p.P23S	MGAT5B_uc002jtg.4_Intron|MGAT5B_uc002jth.3_Intron	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	13						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GATGGCCCTTCCTGCCCTCCT	0.567000														29			6		0	0	8.12818e-05	0	0
BTAF1	9044	broad.mit.edu	37	10	93740304	93740304	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:93740304C>T	uc001khr.3	+	14	1842	c.1744C>T	c.(1744-1746)Ctt>Ttt	p.L582F	BTAF1_uc001khs.1_Missense_Mutation_p.L252F|BTAF1_uc001kht.1_Missense_Mutation_p.L20F	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.	582					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)				AATTCTGGACCTTATTCACAA	0.353000														38			16		0	0	0.000566183	0	0
PRDM16	63976	broad.mit.edu	37	1	3319548	3319548	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:3319548C>T	uc001akf.3	+	5	952	c.870C>T	c.(868-870)ttC>ttT	p.F290F	PRDM16_uc001ake.3_Silent_p.F290F|PRDM16_uc009vlh.3_5'UTR|PRDM16_uc001akc.3_Silent_p.F290F	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	290					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGCGGATGTTCCCCAACAAGT	0.652000			T	EVI1	"""MDS, AML"""									11			9		0	0	0.000442599	0	0
KCNN1	3780	broad.mit.edu	37	19	18085944	18085944	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:18085944C>T	uc002nht.3	+	3	756	c.446C>T	c.(445-447)tCc>tTc	p.S149F	KCNN1_uc010xqa.1_Missense_Mutation_p.S149F	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	149					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						ATCAGCCTCTCCACGGCCATC	0.597000														44			7		0	0	0.000274275	0	0
NLRC3	197358	broad.mit.edu	37	16	3614061	3614061	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:3614061C>T	uc010btn.3	-	4	1288	c.877G>A	c.(877-879)Gag>Aag	p.E293K		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	293	NACHT.				I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACCTTGATCTCCTCCTCGTTA	0.607000														34			9		0	0	0.000274275	0	0
CREB5	9586	broad.mit.edu	37	7	28609991	28609991	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:28609991G>A	uc003szq.3	+	4	690	c.300G>A	c.(298-300)tcG>tcA	p.S100S	CREB5_uc003szo.3_Silent_p.S67S|CREB5_uc003szr.3_Silent_p.S93S	NM_182898	NP_878902	Q02930	CREB5_HUMAN	Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA.	100					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			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						AGAATATCTCGATGCATAATG	0.517000														236			142		0	0	0.000781405	0	0
CD163L1	283316	broad.mit.edu	37	12	7559384	7559384	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:7559384C>T	uc010sge.2	-	4	887	c.861G>A	c.(859-861)ctG>ctA	p.L287L	CD163L1_uc001qsy.3_Silent_p.L277L	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	277	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CTTGGATTTTCAGCTCTACTC	0.478000														116			49		0	0	0.000781405	0	0
MOGAT2	80168	broad.mit.edu	37	11	75439858	75439858	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:75439858C>T	uc010rru.2	+	4	674	c.674C>T	c.(673-675)tCc>tTc	p.S225F	MOGAT2_uc001oww.1_3'UTR|MOGAT2_uc010rrv.2_Missense_Mutation_p.S143F	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA.	225					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	p.F224L(1)		NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					CCAATCTTCTCCTTCGGGGAG	0.537000														58			20		0	0	0.000295444	0	0
FAT3	120114	broad.mit.edu	37	11	92573801	92573801	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:92573801C>T	uc001pdj.4	+	16	10459	c.10442C>T	c.(10441-10443)cCc>cTc	p.P3481L	FAT3_uc001pdi.4_5'UTR	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3481	Cadherin 32.				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)				AATGGGCCTCCCTTTTCATTC	0.473000										TCGA Ovarian(4;0.039)				416			112		0	0	0.000781405	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906490	13906490	+	Silent	SNP	G	A	A	rs142203984		TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:13906490G>A	uc001rbt.2	-	2	950	c.771C>T	c.(769-771)atC>atT	p.I257I		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	257					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|glycine binding|zinc ion binding	p.I257I(4)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GACTGGGCACGATCCACGTGT	0.532000														41			40		0	0	0.000589545	0	0
TMEM130	222865	broad.mit.edu	37	7	98445738	98445738	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:98445738G>A	uc003upo.3	-	7	1438	c.1249C>T	c.(1249-1251)Cgt>Tgt	p.R417C	TMEM130_uc011kiq.2_Missense_Mutation_p.R386C|TMEM130_uc011kir.2_Missense_Mutation_p.R405C|TMEM130_uc003upn.3_Missense_Mutation_p.R303C	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	417						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGTTCTCACGAACAATTTCC	0.567000														53			17		0	0	0.00121646	0	0
TTLL6	284076	broad.mit.edu	37	17	46846537	46846537	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:46846537G>A	uc021tzm.1	-	14	2525	c.2490C>T	c.(2488-2490)ctC>ctT	p.L830L	TTLL6_uc002iob.3_Silent_p.L523L|TTLL6_uc010dbi.3_Intron|TTLL6_uc002ioc.3_Silent_p.L583L|TTLL6_uc002iod.3_Intron	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA.	782						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TCTGCAAGAGGAGGGAGGACA	0.567000														12			15		0	0	0.000219431	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74880348	74880348	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:74880348C>T	uc001owb.3	+	4	974	c.579C>T	c.(577-579)ttC>ttT	p.F193F	SLCO2B1_uc010rrq.2_Intron|SLCO2B1_uc010rrr.2_Silent_p.F49F|SLCO2B1_uc010rrs.2_Silent_p.F77F|SLCO2B1_uc001owc.3_Intron|SLCO2B1_uc001owd.3_Silent_p.F171F	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	193					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)	GGATCATGTTCGTGGCACAGA	0.612000														31			30		0	0	0.000339439	0	0
EXT1	2131	broad.mit.edu	37	8	118831999	118831999	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:118831999G>A	uc003yok.1	-	5	2225	c.1452C>T	c.(1450-1452)atC>atT	p.I484I		NM_000127	NP_000118	Q16394	EXT1_HUMAN	Homo sapiens exostosin 1 (EXT1), mRNA.	484					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TCACCGCATGGATGACTGCAG	0.517000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses					43			42		0	0	0.000781405	0	0
ARID5B	84159	broad.mit.edu	37	10	63851334	63851334	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:63851334C>T	uc001jlt.2	+	9	2568	c.2112C>T	c.(2110-2112)ctC>ctT	p.L704L	ARID5B_uc001jlu.2_Silent_p.L461L	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	704					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GGGCCAGCCTCTCCAGCAGCT	0.532000														29			17		0	0	0.00074312	0	0
CILP	8483	broad.mit.edu	37	15	65490866	65490866	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:65490866G>A	uc002aon.2	-	8	1939	c.1758C>T	c.(1756-1758)atC>atT	p.I586I		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	586					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CCAGGGGGATGATGTTGGTCT	0.507000														44			9		0	0	0.000442599	0	0
C16orf11	146325	broad.mit.edu	37	16	613648	613648	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:613648C>T	uc002chk.3	+	1	633	c.354C>T	c.(352-354)gtC>gtT	p.V118V		NM_145270	NP_660313	P0CG20	CP011_HUMAN	Homo sapiens chromosome 16 open reading frame 11 (C16orf11), mRNA.	118	Pro-rich.									central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						ACCTCGTGGTCGCCGACATCC	0.741000														2			3		0	0	6.4e-05	0	0
NFASC	23114	broad.mit.edu	37	1	204953262	204953262	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:204953262G>A	uc010prc.2	+	20	2808	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	NFASC_uc001hbj.3_Intron|NFASC_uc010pra.2_Missense_Mutation_p.E856K|NFASC_uc001hbi.3_Missense_Mutation_p.E856K|NFASC_uc010prb.2_Missense_Mutation_p.E871K|NFASC_uc001hbk.1_Missense_Mutation_p.E666K|NFASC_uc001hbl.2_Intron|NFASC_uc001hbm.2_5'Flank			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	860					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCAGCTCAGAGAGTACCGAGT	0.552000														30			6		0	0	0.00116845	0	0
CAPN5	726	broad.mit.edu	37	11	76804825	76804825	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:76804825C>T	uc009yup.3	+	3	568	c.383C>T	c.(382-384)tCg>tTg	p.S128L	CAPN5_uc001oxx.3_Missense_Mutation_p.S88L|CAPN5_uc009yuq.3_Missense_Mutation_p.S124L|CAPN5_uc001oxy.3_Missense_Mutation_p.S128L	NM_004055	NP_004046	O15484	CAN5_HUMAN	Homo sapiens calpain 5 (CAPN5), mRNA.	88	Calpain catalytic.			FGEW -> LGM (in Ref. 1; AAC51869).	proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GCAGCCTGCTCGTCACTTGCC	0.662000														9			12		0	0	0.00136819	0	0
ITLN1	55600	broad.mit.edu	37	1	160850449	160850449	+	Missense_Mutation	SNP	G	A	A	rs147618489	byFrequency	TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:160850449G>A	uc001fxc.3	-	5	730	c.614C>T	c.(613-615)cCg>cTg	p.P205L		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	205	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGGGATCACCGGGCCGTTGTC	0.438000														136			62		0	0	0.000781405	0	0
PSEN1	5663	broad.mit.edu	37	14	73685906	73685906	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:73685906C>T	uc001xnr.3	+	11	1597	c.1313C>T	c.(1312-1314)tCc>tTc	p.S438F	PSEN1_uc001xnv.3_Missense_Mutation_p.S434F|PSEN1_uc010ark.3_Missense_Mutation_p.S434F|PSEN1_uc001xnu.3_Non-coding_Transcript	NM_000021	NP_000012	P49768	PSN1_HUMAN	Homo sapiens presenilin 1 (PSEN1), transcript variant 1, mRNA.	438	Required for interaction with CTNNB1.				Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	Golgi membrane|Z disc|apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum	PDZ domain binding|aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		CTTCCAATCTCCATCACCTTT	0.393000														151			89		0	0	0.000781405	0	0
PCGF6	84108	broad.mit.edu	37	10	105104827	105104827	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:105104827G>A	uc001kwt.3	-	5	804	c.736C>T	c.(736-738)Cgt>Tgt	p.R246C	PCGF6_uc001kwu.3_Intron|PCGF6_uc009xxk.3_Non-coding_Transcript|PCGF6_uc009xxl.3_Non-coding_Transcript	NM_001011663	NP_001011663	Q9BYE7	PCGF6_HUMAN	Homo sapiens polycomb group ring finger 6 (PCGF6), transcript variant 1, mRNA.	246					negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		GGTGGAATACGAAACACTGAT	0.318000														54			13		0	0	0.000422831	0	0
NDUFB5	4711	broad.mit.edu	37	3	179341806	179341806	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:179341806C>T	uc003fkc.3	+	5	577	c.548C>T	c.(547-549)cCg>cTg	p.P183L	NDUFB5_uc021xhu.1_3'UTR|NDUFB5_uc003fke.3_Missense_Mutation_p.P131L|NDUFB5_uc003fkd.3_Non-coding_Transcript	NM_002492	NP_002483	O43674	NDUB5_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa (NDUFB5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	183					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	GATCATTCTCCGAAAGCAACT	0.333000														29			14		0	0	0.000308642	0	0
OR11G2	390439	broad.mit.edu	37	14	20665797	20665797	+	Silent	SNP	C	T	T	rs138212036	byFrequency	TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:20665797C>T	uc010tlb.2	+	0	303	c.303C>T	c.(301-303)ctC>ctT	p.L101L		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ACATCCTGCTCGCCAACTTCT	0.522000														58			9		0	0	0.000442599	0	0
PLEC	5339	broad.mit.edu	37	8	144997805	144997805	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:144997805C>A	uc003zaf.1	-	30	6873	c.6703G>T	c.(6703-6705)Gtg>Ttg	p.V2235L	PLEC_uc003zab.1_Missense_Mutation_p.V2098L|PLEC_uc003zac.1_Missense_Mutation_p.V2102L|PLEC_uc003zad.2_Missense_Mutation_p.V2098L|PLEC_uc003zae.1_Missense_Mutation_p.V2066L|PLEC_uc003zag.1_Missense_Mutation_p.V2076L|PLEC_uc003zah.2_Missense_Mutation_p.V2084L|PLEC_uc003zaj.2_Missense_Mutation_p.V2125L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2235	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCGCCTGCACCCGGGCCTCC	0.756000														15			5		0.00116845	0.00769693	0.00116845	1	0
DUOX2	50506	broad.mit.edu	37	15	45394069	45394069	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:45394069G>A	uc001zun.3	-	20	2976	c.2773C>T	c.(2773-2775)Cac>Tac	p.H925Y	DUOX2_uc010bea.3_Missense_Mutation_p.H925Y	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	925	EF-hand 3.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGCATGAAGTGAAAATCCTCC	0.572000														40			12		0	0	0.000219431	0	0
GRIK1	2897	broad.mit.edu	37	21	30959753	30959753	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr21:30959753G>A	uc002yno.1	-	11	2190	c.1726C>T	c.(1726-1728)Cca>Tca	p.P576S	GRIK1_uc002ynn.3_Missense_Mutation_p.P561S|GRIK1_uc011acs.2_Missense_Mutation_p.P576S|GRIK1_uc011act.2_Missense_Mutation_p.P437S|GRIK1_uc010glq.1_Missense_Mutation_p.P419S	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	576					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CAAATATCTGGAGACAGGGGG	0.473000														35			22		0	0	0.00106085	0	0
GPR126	57211	broad.mit.edu	37	6	142758584	142758584	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:142758584C>T	uc010khe.3	+	22	3744	c.3333C>T	c.(3331-3333)ttC>ttT	p.F1111F	GPR126_uc010khc.3_Silent_p.F1111F|GPR126_uc010khd.3_Silent_p.F1083F|GPR126_uc010khf.3_Silent_p.F1083F|GPR126_uc011edv.2_Silent_p.F171F	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.	1111					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TATTTATATTCATCTTCCACT	0.338000														47			15		0	0	0.000566183	0	0
CDH23	64072	broad.mit.edu	37	10	73376977	73376977	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:73376977G>A	uc001jrx.4	+	10	1351	c.961G>A	c.(961-963)Gat>Aat	p.D321N	CDH23_uc001jrw.4_Missense_Mutation_p.D321N|CDH23_uc001jry.3_Missense_Mutation_p.D321N|CDH23_uc001jrz.3_Missense_Mutation_p.D321N|CDH23_uc021psl.1_Missense_Mutation_p.D321N|CDH23_uc009xql.3_Missense_Mutation_p.D321N	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	321	Cadherin 3.				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						GGAGCTGAACGATGACCGCAC	0.522000														16			5		0	0	0.000602214	0	0
FAM129A	116496	broad.mit.edu	37	1	184764653	184764653	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:184764653C>T	uc001gra.3	-	13	2439	c.2245G>A	c.(2245-2247)Gaa>Aaa	p.E749K	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	749	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GGCTCTTTTTCCTCTTCTTCT	0.562000														129			24		0	0	0.000586117	0	0
GLYAT	10249	broad.mit.edu	37	11	58477266	58477266	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:58477266C>T	uc001nnb.3	-	5	1019	c.864G>A	c.(862-864)tgG>tgA	p.W288*		NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	288					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TCCACTGGTTCCAGCTTCTGG	0.448000														82			25		0	0	0.000339439	0	0
ZFP2	80108	broad.mit.edu	37	5	178358836	178358836	+	Silent	SNP	T	C	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:178358836T>C	uc003mjn.1	+	4	1031	c.522T>C	c.(520-522)acT>acC	p.T174T	ZFP2_uc010jky.2_Silent_p.T174T|ZFP2_uc010jkx.1_Silent_p.T174T|ZFP2_uc021yjb.1_Silent_p.T174T	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	Homo sapiens zinc finger protein 2 homolog (mouse) (ZFP2), mRNA.	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	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;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TGAATCTTACTGTCCATCAAC	0.403000														11			18		0	0	0.00152264	0	0
CDH23	64072	broad.mit.edu	37	10	73447448	73447448	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:73447448C>T	uc001jrx.4	+	17	2415	c.2025C>T	c.(2023-2025)ttC>ttT	p.F675F	CDH23_uc001jry.3_Silent_p.F675F|CDH23_uc001jrz.3_Silent_p.F675F	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	677	Cadherin 7.				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						CCGCCTACTTCGTCTCCGTGG	0.627000														17			4		0	0	0.000602214	0	0
FYB	2533	broad.mit.edu	37	5	39203057	39203057	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:39203057C>T	uc003jls.3	-	0	73	c.6G>A	c.(4-6)gcG>gcA	p.A2A	FYB_uc003jlt.3_Silent_p.A2A|FYB_uc003jlu.3_Silent_p.A2A|FYB_uc011cpl.2_Silent_p.A12A	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	2					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding	p.A2V(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGTTATATTTCGCCATGAGGG	0.433000														56			22		0	0	0.000878237	0	0
DAPP1	27071	broad.mit.edu	37	4	100756893	100756893	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:100756893T>C	uc003hvf.4	+	1	305	c.215T>C	c.(214-216)cTc>cCc	p.L72P	DAPP1_uc011cek.2_Missense_Mutation_p.L72P|DAPP1_uc010ilh.3_Missense_Mutation_p.L72P	NM_014395	NP_055210	Q9UN19	DAPP1_HUMAN	Homo sapiens dual adaptor of phosphotyrosine and 3-phosphoinositides (DAPP1), mRNA.	72	SH2.				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)		CTGTACTCTCTCTCTGTGAGG	0.507000														34			11		0	0	0.00136819	0	0
POLL	27343	broad.mit.edu	37	10	103339317	103339317	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:103339317G>A	uc001ktg.1	-	7	2387	c.1621C>T	c.(1621-1623)Cat>Tat	p.H541Y	DPCD_uc010qpz.2_Intron|POLL_uc001ktd.1_Missense_Mutation_p.H214Y|POLL_uc001kte.1_Missense_Mutation_p.H233Y|POLL_uc001kth.1_Missense_Mutation_p.H266Y|POLL_uc001ktj.2_Missense_Mutation_p.H541Y|POLL_uc010qqb.2_Non-coding_Transcript|POLL_uc001ktf.3_Missense_Mutation_p.H449Y|POLL_uc001kti.2_Missense_Mutation_p.H541Y|POLL_uc001ktl.3_Missense_Mutation_p.H453Y|POLL_uc001ktm.3_Missense_Mutation_p.H541Y|POLL_uc010qqc.2_Missense_Mutation_p.H233Y|POLL_uc010qqa.2_Missense_Mutation_p.H280Y	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	Homo sapiens polymerase (DNA directed), lambda (POLL), transcript variant 2, mRNA.	541					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)		TTGCAGCCATGGGTGTTCCGG	0.617000								DNA polymerases (catalytic subunits)						28			16		0	0	0.00074312	0	0
DRAM1	55332	broad.mit.edu	37	12	102302061	102302061	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:102302061C>T	uc001tix.3	+	3	903	c.440C>T	c.(439-441)tCa>tTa	p.S147L	DRAM1_uc010svv.2_Intron	NM_018370	NP_060840	Q8N682	DRAM1_HUMAN	Homo sapiens DNA-damage regulated autophagy modulator 1 (DRAM1), mRNA.	147					apoptosis|autophagy	integral to membrane|lysosomal membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						TCTTACAAATCATGTCCCCAG	0.512000														82			17		0	0	0.00074312	0	0
SCN11A	11280	broad.mit.edu	37	3	38991652	38991652	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:38991652C>T	uc021wvy.1	-	0	401	c.202G>A	c.(202-204)Gac>Aac	p.D68N		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	68					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)	CGAGGAATGTCGCCATAGAGC	0.542000														70			22		0	0	0.000229342	0	0
CDRT1	374286	broad.mit.edu	37	17	15517324	15517324	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:15517324G>A	uc002gor.1	-	8	1961	c.1624C>T	c.(1624-1626)Cgg>Tgg	p.R542W	CDRT1_uc002gov.4_Missense_Mutation_p.R232W			O95170	CDRT1_HUMAN	Homo sapiens tripartite motif containing 16 (TRIM16), mRNA.	232										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		GATATACACCGGAGTGAATTC	0.488000														80			25		0	0	0.000720815	0	0
PRKG1	5592	broad.mit.edu	37	10	54041970	54041970	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:54041970G>A	uc001jjm.3	+	13	1786	c.1558G>A	c.(1558-1560)Ggg>Agg	p.G520R	PRKG1_uc001jjo.3_Missense_Mutation_p.G535R|PRKG1_uc009xow.2_Missense_Mutation_p.G238R|LOC100506939_uc021pqu.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	520	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)		GACTTTTTGTGGGACTCCAGA	0.403000														37			19		0	0	0.000958276	0	0
ROS1	6098	broad.mit.edu	37	6	117662729	117662729	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:117662729C>T	uc003pxp.1	-	28	4935	c.4736G>A	c.(4735-4737)aGa>aAa	p.R1579K	ROS1_uc011ebi.1_Intron|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1579	Fibronectin type-III 7.				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)		GTGAGATTCTCTCCAAGATAT	0.428000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									29			13		0	0	0.000219431	0	0
SIRPB2	284759	broad.mit.edu	37	20	1460549	1460549	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:1460549C>T	uc002wfg.2	-	1	475	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	SIRPB2_uc002wfh.3_Intron|SIRPB2_uc010zpr.1_Intron	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN	Homo sapiens signal-regulatory protein beta 2 (SIRPB2), transcript variant 1, mRNA.	83	Ig-like V-type 1.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTATAAATTTCCTGTTGGTCC	0.463000														56			24		0	0	0.000375601	0	0
MOB3A	126308	broad.mit.edu	37	19	2076834	2076834	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:2076834G>A	uc002luu.3	-	1	759	c.600C>T	c.(598-600)atC>atT	p.I200I	MOB3A_uc002luv.3_Silent_p.I200I	NM_130807	NP_570719	Q96BX8	MOL2A_HUMAN	Homo sapiens MOB kinase activator 3A (MOB3A), mRNA.	200						intracellular	metal ion binding										CCTTGGTGTCGATGAGGCCGA	0.637000														4			8		0	0	0.000157383	0	0
PSG5	5673	broad.mit.edu	37	19	43688966	43688966	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:43688966C>T	uc002ovu.3	-	1	529	c.398G>A	c.(397-399)gGa>gAa	p.G133E	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.G133E	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	133	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TCCAGTTACTCCTCTAGTCCT	0.473000														148			44		0	0	0.000781405	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229706	8229706	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:8229706C>T	uc003gkv.4	+	11	2386	c.2285C>T	c.(2284-2286)cCt>cTt	p.P762L	SH3TC1_uc003gkw.4_Missense_Mutation_p.P686L|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.	762							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						CACAGCCTCCCTGCCCAAACT	0.692000														20			5		0	0	8.12818e-05	0	0
FCGBP	8857	broad.mit.edu	37	19	40411937	40411937	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:40411937G>A	uc002omp.4	-	6	3699	c.3691C>T	c.(3691-3693)Ccg>Tcg	p.P1231S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1231	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)			GCCTCGTGCGGTCCGCAGCTG	0.672000														27			14		0	0	0.000422831	0	0
ATMIN	23300	broad.mit.edu	37	16	81077419	81077419	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:81077419C>G	uc002ffz.1	+	3	1334	c.1316C>G	c.(1315-1317)tCt>tGt	p.S439C	ATMIN_uc002fga.2_Missense_Mutation_p.S281C|ATMIN_uc010vnn.1_Missense_Mutation_p.S210C|ATMIN_uc002fgb.1_Missense_Mutation_p.S281C	NM_015251	NP_056066	O43313	ATMIN_HUMAN	Homo sapiens ATM interactor (ATMIN), mRNA.	439	Required for formation of RAD51 foci.				response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						TCTGTGTCGTCTTGTTCTCAA	0.413000														67			27		0	0	0.000878237	0	0
ENGASE	64772	broad.mit.edu	37	17	77082081	77082081	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:77082081C>T	uc002jwv.3	+	13	1890	c.1882C>T	c.(1882-1884)Cgc>Tgc	p.R628C	ENGASE_uc002jww.3_Missense_Mutation_p.R333C	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	628						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CTCTCACATCCGCTGGCAGCC	0.672000														31			9		0	0	0.000274275	0	0
NRG1	3084	broad.mit.edu	37	8	32585487	32585487	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:32585487G>A	uc003xiv.2	+	5	1040	c.523G>A	c.(523-525)Ggg>Agg	p.G175R	NRG1_uc022ats.1_Missense_Mutation_p.G120R|NRG1_uc003xip.3_Missense_Mutation_p.G356R|NRG1_uc003xir.3_Missense_Mutation_p.G175R|NRG1_uc010lvl.3_Missense_Mutation_p.G158R|NRG1_uc010lvm.3_Missense_Mutation_p.G141R|NRG1_uc010lvn.3_Missense_Mutation_p.G141R|NRG1_uc003xis.3_Missense_Mutation_p.G175R|NRG1_uc011lbf.1_Missense_Mutation_p.G175R|NRG1_uc010lvo.2_Missense_Mutation_p.G175R|NRG1_uc003xiu.2_Missense_Mutation_p.G175R|NRG1_uc003xiw.2_Missense_Mutation_p.G175R|NRG1_uc003xit.2_Missense_Mutation_p.G175R|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_5'UTR|NRG1_uc010lvp.2_Missense_Mutation_p.G124R|NRG1_uc010lvq.2_Missense_Mutation_p.G100R|NRG1_uc003xix.3_Missense_Mutation_p.G65R|NRG1_uc003xiy.3_Missense_Mutation_p.G230R|NRG1_uc011lbg.1_Missense_Mutation_p.G21R|NRG1_uc011lbh.1_Missense_Mutation_p.G21R|NRG1_uc003xiz.1_Non-coding_Transcript|NRG1_uc003xja.2_5'UTR	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	175	Ser/Thr-rich.				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)		ATCCACCACTGGGACAAGCCA	0.428000														53			43		0	0	0.000781405	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768012	77768012	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:77768012G>A	uc003yau.2	+	9	9242	c.8855G>A	c.(8854-8856)cGa>cAa	p.R2952Q	ZFHX4_uc003yaw.1_Missense_Mutation_p.R2907Q	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2907						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R2936Q(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)			AGTGACTACCGAACTCCAACC	0.448000										HNSCC(33;0.089)				46			8		0	0	0.000442599	0	0
ERCC3	2071	broad.mit.edu	37	2	128029016	128029016	+	Missense_Mutation	SNP	G	A	A	rs139049289		TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:128029016G>A	uc002toh.1	-	11	1936	c.1841C>T	c.(1840-1842)tCg>tTg	p.S614L	ERCC3_uc002toe.1_Missense_Mutation_p.S369L|ERCC3_uc002tof.1_Missense_Mutation_p.S550L|ERCC3_uc002tog.1_Missense_Mutation_p.S550L	NM_000122	NP_000113	P19447	ERCC3_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA.	614	Helicase C-terminal.				DNA topological change|cell cycle checkpoint|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CAGATCAAACGAAGTGTCACC	0.423000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					53			38		0	0	0.000374591	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47558509	47558509	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:47558509C>T	uc002xtx.4	+	2	413	c.261C>T	c.(259-261)tcC>tcT	p.S87S		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	87					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TCAGCACATCCCTTGACTGCT	0.502000														51			16		0	0	0.000422831	0	0
C19orf33	64073	broad.mit.edu	37	19	38795318	38795318	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:38795318G>A	uc002ohu.1	+	2	291	c.193G>A	c.(193-195)Gat>Aat	p.D65N	YIF1B_uc002ohw.2_3'UTR|YIF1B_uc002ohx.2_3'UTR|YIF1B_uc010xtx.1_3'UTR|YIF1B_uc010xty.1_3'UTR|YIF1B_uc002oia.2_3'UTR|YIF1B_uc002ohy.2_3'UTR|YIF1B_uc002ohz.2_3'UTR|C19orf33_uc002ohv.1_Silent_p.R84R	NM_033520	NP_277055	Q9GZP8	IMUP_HUMAN	Homo sapiens chromosome 19 open reading frame 33 (C19orf33), mRNA.	65						nucleus						all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TTCGGACACGGATGTGAAGGT	0.692000														24			11		0	0	0.000219431	0	0
LRP4	4038	broad.mit.edu	37	11	46900852	46900852	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:46900852G>A	uc001ndn.4	-	20	3072	c.2829C>T	c.(2827-2829)agC>agT	p.S943S		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	943					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GGGGGAGCTGGCTTCCAATCA	0.562000														25			16		0	0	0.000958276	0	0
TOP3A	7156	broad.mit.edu	37	17	18183948	18183948	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:18183948G>A	uc002gsx.1	-	16	2275	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F	TOP3A_uc010cpz.1_Silent_p.F134F|TOP3A_uc010vxr.1_Silent_p.F212F|TOP3A_uc002gsw.1_Silent_p.F134F|TOP3A_uc010vxs.1_Silent_p.F580F	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA.	682					DNA topological change|meiosis	PML body|chromosome	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GACACTCTGGGAAACCCATGC	0.577000														33			15		0	0	0.00074312	0	0
GYS1	2997	broad.mit.edu	37	19	49473833	49473833	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:49473833G>A	uc002plp.3	-	13	2020	c.1779C>T	c.(1777-1779)tcC>tcT	p.S593S	GYS1_uc010emm.3_Silent_p.S529S|GYS1_uc010xzz.2_Silent_p.S513S	NM_002103	NP_002094	P13807	GYS1_HUMAN	Homo sapiens glycogen synthase 1 (muscle) (GYS1), transcript variant 1, mRNA.	593					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CCAGAAGGTCGGAGAGGCGCT	0.597000											OREG0025611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			4		0	0	0.000602214	0	0
TIMMDC1	51300	broad.mit.edu	37	3	119219648	119219648	+	Nonsense_Mutation	SNP	A	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:119219648A>T	uc003ecn.3	+	1	514	c.301A>T	c.(301-303)Aaa>Taa	p.K101*	TIMMDC1_uc003eco.3_Non-coding_Transcript|TIMMDC1_uc003ecp.3_Non-coding_Transcript	NM_016589	NP_057673	Q9NPL8	TIDC1_HUMAN	Homo sapiens translocase of inner mitochondrial membrane domain containing 1 (TIMMDC1), nuclear gene encoding mitochondrial protein, mRNA.	101						integral to membrane|mitochondrial inner membrane	protein transporter activity			autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						TATTCATGCTAAACAACAATA	0.433000														31			15		0	0	0.00074312	0	0
FAM75E1	286234	broad.mit.edu	37	9	90499972	90499972	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:90499972C>T	uc004app.4	+	3	605	c.570C>T	c.(568-570)tcC>tcT	p.S190S	FAM75E1_uc004apo.1_Intron	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	190	Pro-rich.					integral to membrane											CCAGCTTGTCCCCACCAGCTC	0.627000														24			26		0	0	0.00106085	0	0
MYOCD	93649	broad.mit.edu	37	17	12656204	12656204	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:12656204G>A	uc002gno.2	+	9	1898	c.1599G>A	c.(1597-1599)tgG>tgA	p.W533*	MYOCD_uc002gnn.2_Nonsense_Mutation_p.W533*|MYOCD_uc002gnp.1_Nonsense_Mutation_p.W437*|MYOCD_uc002gnq.2_Nonsense_Mutation_p.W252*	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	533					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)		AACTCACCTGGAAACTCCAGC	0.537000														34			17		0	0	0.00074312	0	0
CPN2	1370	broad.mit.edu	37	3	194062895	194062895	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:194062895G>A	uc003fts.3	-	1	627	c.537C>T	c.(535-537)aaC>aaT	p.N179N	CPN2_uc021xix.1_Silent_p.N179N	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	179					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GGGCCAGGAGGTTCTGGGCCA	0.647000														28			9		0	0	0.000442599	0	0
SORL1	6653	broad.mit.edu	37	11	121474953	121474953	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:121474953G>A	uc001pxx.3	+	32	4700	c.4571G>A	c.(4570-4572)gGg>gAg	p.G1524E	SORL1_uc010rzp.1_Missense_Mutation_p.G370E|SORL1_uc010rzq.1_Missense_Mutation_p.G139E	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1524	LDL-receptor class A 11.				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)		TGCGAGGACGGGGAGGCCTGC	0.617000														95			32		0	0	0.00148497	0	0
PAPOLB	56903	broad.mit.edu	37	7	4899799	4899799	+	Nonsense_Mutation	SNP	A	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:4899799A>T	uc003snk.3	-	0	1827	c.1643T>A	c.(1642-1644)tTg>tAg	p.L548*	RADIL_uc003sng.1_Intron|RADIL_uc003snj.1_Intron|RADIL_uc011jwd.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	Homo sapiens poly(A) polymerase beta (testis specific) (PAPOLB), mRNA.	547					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		ACTGCTAATCAATGGGCCTGT	0.453000														83			60		0	0	0.000781405	0	0
PCDH15	65217	broad.mit.edu	37	10	55582729	55582729	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:55582729C>T	uc010qhy.1	-	34	5173	c.4778G>A	c.(4777-4779)aGg>aAg	p.R1593K	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.R1588K|PCDH15_uc021pqz.1_Missense_Mutation_p.R1563K|PCDH15_uc010qhv.1_Missense_Mutation_p.R1583K|PCDH15_uc010qhw.1_Missense_Mutation_p.R1546K|PCDH15_uc010qhx.1_Missense_Mutation_p.R1517K|PCDH15_uc010qhz.1_Missense_Mutation_p.R1588K|PCDH15_uc010qia.1_Missense_Mutation_p.R1566K|PCDH15_uc001jju.1_Missense_Mutation_p.R1586K|PCDH15_uc010qib.1_Missense_Mutation_p.R1563K	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1586					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)				TGGAACTTTCCTCATCAGCCT	0.463000										HNSCC(58;0.16)				46			18		0	0	0.000295444	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555292	44555292	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr18:44555292C>T	uc010xdb.2	-	0	1158	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	308	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						AAAGCAGCTTCCTCCTGGAGC	0.637000														790			29		0	0	0.001512	0	0
DOCK4	9732	broad.mit.edu	37	7	111368493	111368493	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:111368493G>A	uc003vfy.3	-	53	6142	c.5873C>T	c.(5872-5874)cCc>cTc	p.P1958L	DOCK4_uc011kml.2_Missense_Mutation_p.P794L|DOCK4_uc011kmm.2_Missense_Mutation_p.P782L|DOCK4_uc003vfw.3_Missense_Mutation_p.P1325L|DOCK4_uc003vfx.3_Missense_Mutation_p.P1913L|DOCK4_uc003vfv.3_Missense_Mutation_p.P226L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1913	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TAGCGGGACGGGGCGCCGCAG	0.716000														34			34		0	0	0.00128727	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54920345	54920345	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:54920345G>A	uc001sgc.4	+	20	2269	c.2190G>A	c.(2188-2190)acG>acA	p.T730T	NCKAP1L_uc010sox.2_Silent_p.T272T|NCKAP1L_uc010soy.2_Silent_p.T680T	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	730					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ACAATGCCACGACCCAGGAGA	0.433000														49			32		0	0	0.000491102	0	0
C10orf96	374355	broad.mit.edu	37	10	118101596	118101596	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:118101596G>A	uc001lck.3	+	4	582	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_198515	NP_940917	P0C7W6	CJ096_HUMAN	Homo sapiens chromosome 10 open reading frame 96 (C10orf96), mRNA.	111								p.K110Q(1)		kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)	18		Lung NSC(174;0.204)|all_lung(145;0.248)		all cancers(201;0.014)		ATTTATTAAGGAAATTACAGA	0.264000														57			10		0	0	0.00136819	0	0
MUC5B	727897	broad.mit.edu	37	11	1269208	1269208	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:1269208G>A	uc001lta.3	+	30	11157	c.11098G>A	c.(11098-11100)Gcc>Acc	p.A3700T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3700	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GACCACAACAGCCACTACGAC	0.652000														106			22		0	0	0.000878237	0	0
GRIA3	2892	broad.mit.edu	37	X	122613938	122613938	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chrX:122613938G>A	uc004etq.4	+	13	2641	c.2349G>A	c.(2347-2349)ttG>ttA	p.L783L	GRIA3_uc004etr.4_Intron|GRIA3_uc004ets.4_Non-coding_Transcript	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	783					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)	TTGCAGTATTGAAACTCAGTG	0.383000														16			32		0	0	0.000953801	0	0
GPLD1	2822	broad.mit.edu	37	6	24447166	24447166	+	Missense_Mutation	SNP	C	T	T	rs140138874	byFrequency	TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:24447166C>T	uc003ned.1	-	17	1831	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K		NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	574						extracellular region	glycosylphosphatidylinositol phospholipase D activity	p.G573C(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AAGTCTTCCTCGCCTCTCACC	0.488000														38			31		0	0	0.00058488	0	0
OXR1	55074	broad.mit.edu	37	8	107751735	107751735	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:107751735C>T	uc011lht.2	+	11	2189	c.2090C>T	c.(2089-2091)gCa>gTa	p.A697V	OXR1_uc022azp.1_Missense_Mutation_p.A696V|OXR1_uc003ymf.3_Missense_Mutation_p.A669V|OXR1_uc011lhu.2_Missense_Mutation_p.A662V|OXR1_uc010mcg.3_Non-coding_Transcript|OXR1_uc010mch.3_Intron|OXR1_uc003ymk.3_Missense_Mutation_p.A66V|OXR1_uc003yml.3_Missense_Mutation_p.A39V	NM_001198532	NP_001185461	Q8N573	OXR1_HUMAN	Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.	697					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		p.N697D(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			ACAGTGAAAGCAGACCTGGAG	0.378000														41			22		0	0	0.000586117	0	0
PRKCQ	5588	broad.mit.edu	37	10	6528045	6528045	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:6528045G>A	uc001iji.1	-	7	1035	c.951C>T	c.(949-951)aaC>aaT	p.N317N	PRKCQ_uc001ijj.2_Silent_p.N284N|PRKCQ_uc009xim.2_Silent_p.N284N|PRKCQ_uc009xin.2_Silent_p.N248N|PRKCQ_uc010qax.2_Silent_p.N159N	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	284					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						TTAGCTTCTGGTTTATGCCAC	0.527000														40			10		0	0	0.000673444	0	0
ABCD3	5825	broad.mit.edu	37	1	94964161	94964161	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:94964161C>T	uc010oto.2	+	17	1564	c.1462C>T	c.(1462-1464)Cga>Tga	p.R488*	ABCD3_uc001dqn.4_Nonsense_Mutation_p.R464*|ABCD3_uc010otp.2_Nonsense_Mutation_p.R391*|ABCD3_uc009wdr.3_Nonsense_Mutation_p.R354*|ABCD3_uc001dqo.4_Nonsense_Mutation_p.R152*	NM_002858	NP_002849	P28288	ABCD3_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3), transcript variant 1, mRNA.	464	ABC transporter.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TTTTCAGGTTCGATCTGGGGC	0.338000														21			9		0	0	0.000978159	0	0
UGT3A2	167127	broad.mit.edu	37	5	36037996	36037996	+	Nonsense_Mutation	SNP	G	A	A	rs147315371		TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:36037996G>A	uc003jjz.2	-	5	1330	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*	UGT3A2_uc011cos.2_Nonsense_Mutation_p.R366*|UGT3A2_uc011cot.2_Nonsense_Mutation_p.R98*	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	400						integral to membrane	glucuronosyltransferase activity	p.V399F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCTTCTACTCGGACCATGTTT	0.478000														91			20		0	0	0.000958276	0	0
MUC16	94025	broad.mit.edu	37	19	9076695	9076695	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:9076695G>A	uc002mkp.3	-	2	10955	c.10751C>T	c.(10750-10752)tCt>tTt	p.S3584F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3585	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						AGCTGTGGAAGACCAGGTGGA	0.493000														68			21		0	0	0.000229342	0	0
RIN1	9610	broad.mit.edu	37	11	66103267	66103267	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:66103267G>A	uc001ohn.1	-	2	475	c.348C>T	c.(346-348)ttC>ttT	p.F116F	RIN1_uc010roy.1_5'Flank|RIN1_uc009yrd.1_5'UTR|RIN1_uc010roz.1_Silent_p.F11F|RIN1_uc010rpa.1_Silent_p.F11F	NM_004292	NP_004283	Q13671	RIN1_HUMAN	Homo sapiens Ras and Rab interactor 1 (RIN1), mRNA.	116	SH2.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						GGCTGGAGACGAAGGAGGGGC	0.637000														13			11		0	0	0.000978159	0	0
ABCB5	340273	broad.mit.edu	37	7	20782554	20782554	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:20782554C>T	uc010kuh.3	+	24	3316	c.3079C>T	c.(3079-3081)Cgc>Tgc	p.R1027C	ABCB5_uc003suw.4_Missense_Mutation_p.R582C	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	582					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						CTATCCATGTCGCCCAGATGT	0.468000														52			21		0	0	0.000375601	0	0
abParts	0	broad.mit.edu	37	14	106349677	106349677	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:106349677G>A	uc021ser.1	-	3936		c.58751_splice	c.e3936-1							Parts of antibodies, mostly variable regions.																		AGCCCCAGGAGAAGCAGGTGA	0.622000														10			5		0	0	0.00116845	0	0
OR10H5	284433	broad.mit.edu	37	19	15905589	15905589	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:15905589C>T	uc010xos.2	+	0	731	c.731C>T	c.(730-732)tCt>tTt	p.S244F		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S244A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						ACCTGTGCCTCTCACCTCACT	0.552000														18			14		0	0	0.000295444	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947403	57947403	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:57947403G>A	uc021qjm.1	+	0	487	c.487G>A	c.(487-489)Gcc>Acc	p.A163T	OR9Q1_uc001nmj.3_Missense_Mutation_p.A163T	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 1 (OR9Q1), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				GACAGTCTCAGCCTTCACTCT	0.522000														21			17		0	0	0.000422831	0	0
ULBP3	79465	broad.mit.edu	37	6	150386606	150386606	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:150386606C>T	uc003qns.3	-	2	637	c.556G>A	c.(556-558)Gtc>Atc	p.V186I	ULBP3_uc011eej.1_Missense_Mutation_p.V61I|ULBP3_uc011eek.1_Missense_Mutation_p.V137I	NM_024518	NP_078794	Q9BZM4	N2DL3_HUMAN	Homo sapiens UL16 binding protein 3 (ULBP3), mRNA.	186	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation	MHC class I protein complex|anchored to membrane	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		CTCATTGAGACCATCTTGAAG	0.527000														47			15		0	0	0.000308642	0	0
LRRC56	115399	broad.mit.edu	37	11	540700	540700	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:540700G>A	uc010qvz.2	+	3	521	c.16G>A	c.(16-18)Gac>Aac	p.D6N		NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN	Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA.	6										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCTGGGCTGGGACAGATCCCG	0.667000														30			12		0	0	0.000151284	0	0
USP6NL	9712	broad.mit.edu	37	10	11505704	11505704	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:11505704G>A	uc001iks.1	-	13	1317	c.1274C>T	c.(1273-1275)cCc>cTc	p.P425L	USP6NL_uc001ikt.3_Missense_Mutation_p.P408L	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN	Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 2, mRNA.	408						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CCTCCTGTGGGGCGCCCCGCT	0.687000														22			6		0	0	0.00116845	0	0
GRM3	2913	broad.mit.edu	37	7	86415831	86415831	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:86415831C>T	uc003uid.3	+	2	1822	c.723C>T	c.(721-723)atC>atT	p.I241I	GRM3_uc010lef.3_Silent_p.I239I|GRM3_uc010leg.3_Silent_p.I113I|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	241					synaptic transmission	integral to plasma membrane		p.I241I(2)		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)	ACATCTGCATCGCTACGGCGG	0.617000														41			36		0	0	0.000814825	0	0
GML	2765	broad.mit.edu	37	8	143927990	143927990	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:143927990G>A	uc003yxg.3	+	3	451	c.361G>A	c.(361-363)Gac>Aac	p.D121N		NM_002066	NP_002057	Q99445	GML_HUMAN	Homo sapiens glycosylphosphatidylinositol anchored molecule like protein (GML), mRNA.	121	UPAR/Ly6.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|apoptosis|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane		p.R120M(1)		NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCTTGAAAGGGACATGTTACC	0.438000														39			27		0	0	0.000339439	0	0
KCNT1	57582	broad.mit.edu	37	9	138676458	138676458	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:138676458C>T	uc011mdq.2	+	25	3095	c.3021C>T	c.(3019-3021)ctC>ctT	p.L1007L	KCNT1_uc011mdr.2_Silent_p.L834L|KCNT1_uc010nbf.3_Silent_p.L962L|KCNT1_uc004cgo.1_Silent_p.L756L	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	1007						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)		CGGGGTACCTCTGTGCCGTAA	0.677000														6			13		0	0	0.00136819	0	0
KCNV1	27012	broad.mit.edu	37	8	110984881	110984881	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:110984881G>A	uc003ynr.4	-	1	1401	c.597C>T	c.(595-597)atC>atT	p.I199I	KCNV1_uc010mcw.3_Silent_p.I199I	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	199						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GTTTCTCCAGGATATTCCAGA	0.498000														43			14		0	0	0.000151284	0	0
FSTL4	23105	broad.mit.edu	37	5	132535168	132535168	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:132535168G>A	uc003kyn.1	-	15	2366	c.2148C>T	c.(2146-2148)atC>atT	p.I716I	FSTL4_uc003kym.1_Silent_p.I365I	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	716						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)			CCCGCACTGTGATCTCCTGCA	0.572000														17			25		0	0	0.000375601	0	0
ENDOD1	23052	broad.mit.edu	37	11	94862342	94862342	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:94862342G>A	uc001pfh.3	+	1	1220	c.1102G>A	c.(1102-1104)Gtg>Atg	p.V368M		NM_015036	NP_055851	O94919	ENDD1_HUMAN	Homo sapiens endonuclease domain containing 1 (ENDOD1), mRNA.	368						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				TACCAAGCAGGTGATTAATGG	0.443000														67			10		0	0	0.000673444	0	0
AHCTF1	25909	broad.mit.edu	37	1	247065863	247065863	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:247065863G>A	uc001ibv.2	-	7	1205	c.1108C>T	c.(1108-1110)Cga>Tga	p.R370*		NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	361	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	p.G369D(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CCATGAGATCGAAATTTCTCT	0.418000														135			47		0	0	0.000781405	0	0
HCN4	10021	broad.mit.edu	37	15	73624501	73624501	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:73624501C>T	uc002avp.3	-	2	2336	c.1342G>A	c.(1342-1344)Gac>Aac	p.D448N		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	448					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		ACCCAGCAGTCGTCAGGGAAG	0.622000														28			34		0	0	0.00148497	0	0
OR4B1	119765	broad.mit.edu	37	11	48239105	48239105	+	Silent	SNP	T	C	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:48239105T>C	uc010rhs.2	+	0	744	c.744T>C	c.(742-744)ttT>ttC	p.F248F		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TCATCTTGTTTTTTGGACCTG	0.473000														51			15		0	0	0.000422831	0	0
FGD4	121512	broad.mit.edu	37	12	32755164	32755164	+	Nonsense_Mutation	SNP	T	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:32755164T>A	uc010ske.2	+	6	1326	c.1242T>A	c.(1240-1242)taT>taA	p.Y414*	FGD4_uc001rlc.3_Nonsense_Mutation_p.Y387*|FGD4_uc001rky.3_Nonsense_Mutation_p.Y54*|FGD4_uc001rkz.3_Nonsense_Mutation_p.Y302*|FGD4_uc001rla.3_5'UTR|FGD4_uc001rlb.1_Non-coding_Transcript	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA.	302					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|filopodium|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					ATGGAGAATATGTGAAAGGAT	0.348000														212			29		0	0	0.000339439	0	0
TPX2	22974	broad.mit.edu	37	20	30385293	30385293	+	Silent	SNP	C	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:30385293C>A	uc002wwp.1	+	15	2618	c.1920C>A	c.(1918-1920)ccC>ccA	p.P640P	TPX2_uc010gdv.1_Silent_p.P676P	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	640					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CCTTTGTTCCCAAGAAAGAGA	0.458000														232			11		0.00136819	0.00899883	0.00136819	1	0
PHKA2	5256	broad.mit.edu	37	X	18958111	18958111	+	Splice_Site	SNP	A	G	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chrX:18958111A>G	uc004cyv.4	-	9	1348	c.918_splice	c.e9+1	p.E306_splice		NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	306					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TTTAAATACAACCTCTCTTGG	0.353000														30			72		0	0	0.000781405	0	0
MAP3K4	4216	broad.mit.edu	37	6	161470199	161470199	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:161470199C>T	uc003qtn.3	+	2	1037	c.895C>T	c.(895-897)Ctt>Ttt	p.L299F	MAP3K4_uc010kkc.1_Missense_Mutation_p.L299F|MAP3K4_uc003qto.3_Missense_Mutation_p.L299F|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	299					JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TAATGAAATCCTTACTTTCAA	0.443000														33			16		0	0	0.000308642	0	0
STON2	85439	broad.mit.edu	37	14	81744845	81744845	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:81744845C>T	uc010tvu.2	-	3	1008	c.810G>A	c.(808-810)atG>atA	p.M270I	STON2_uc001xvk.1_Missense_Mutation_p.M270I|STON2_uc010tvt.2_Missense_Mutation_p.M67I	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	270					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)		TAAATGATCCCATTGAATTAT	0.448000														94			42		0	0	0.00148497	0	0
TRIM4	89122	broad.mit.edu	37	7	99490188	99490188	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:99490188G>A	uc003usd.3	-	6	1300	c.1101C>T	c.(1099-1101)ccC>ccT	p.P367P	TRIM4_uc003use.3_Silent_p.P341P|TRIM4_uc011kjc.2_Silent_p.P197P	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN	Homo sapiens tripartite motif containing 4 (TRIM4), transcript variant alpha, mRNA.	367	B30.2/SPRY.		P -> S (in dbSNP:rs35432946).		protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				CCAGAACACAGGGTAAGTGCT	0.478000														58			20		0	0	0.00121646	0	0
DHRS9	10170	broad.mit.edu	37	2	169938402	169938402	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:169938402A>T	uc010zdc.2	+	1	603	c.491A>T	c.(490-492)aAa>aTa	p.K164I	DHRS9_uc002uep.3_Missense_Mutation_p.K104I|DHRS9_uc002ueq.3_Missense_Mutation_p.K104I|DHRS9_uc002uer.1_Missense_Mutation_p.K104I|DHRS9_uc010zdd.2_Missense_Mutation_p.K104I|DHRS9_uc010zde.2_Missense_Mutation_p.K104I	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.	104					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GTTGGGGAGAAAGGTGAGAGA	0.488000														14			10		0	0	0.000978159	0	0
FAM154A	158297	broad.mit.edu	37	9	18928465	18928465	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:18928465G>A	uc003zni.2	-	3	1360	c.1010C>T	c.(1009-1011)tCt>tTt	p.S337F	FAM154A_uc010mip.2_Missense_Mutation_p.S145F	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	Homo sapiens family with sequence similarity 154, member A (FAM154A), mRNA.	337										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		GGTGGTGGAAGAGCCTTCAAA	0.592000														28			34		0	0	0.00111076	0	0
EXD1	161829	broad.mit.edu	37	15	41483671	41483671	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:41483671G>A	uc010ucv.2	-	9	1105	c.833C>T	c.(832-834)tCc>tTc	p.S278F	EXD1_uc001znj.3_5'Flank|EXD1_uc001znk.3_Missense_Mutation_p.S220F	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	220					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TTCTAGAAAGGAGAGATATTT	0.383000														61			9		0	0	0.000673444	0	0
DSG3	1830	broad.mit.edu	37	18	29037053	29037053	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr18:29037053G>A	uc002kws.3	+	2	291	c.182G>A	c.(181-183)gGa>gAa	p.G61E		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	61	Cadherin 1.				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)			TGCAGAGAAGGAGAAGATAAC	0.338000														22			18		0	0	0.000566183	0	0
CEP85L	387119	broad.mit.edu	37	6	118886834	118886834	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:118886834G>A	uc003pya.2	-	3	954	c.887C>T	c.(886-888)tCc>tTc	p.S296F	CEP85L_uc003pxz.2_Missense_Mutation_p.S293F|CEP85L_uc003pyb.3_Missense_Mutation_p.S293F|CEP85L_uc011ebj.2_Missense_Mutation_p.S191F|CEP85L_uc003pyc.3_Missense_Mutation_p.S296F|CEP85L_uc011ebl.1_Missense_Mutation_p.S191F	NM_001178035	NP_001171506	Q5SZL2	CF204_HUMAN	Homo sapiens centrosomal protein 85kDa-like (CEP85L), transcript variant 3, mRNA.	293						centrosome											AGTCCTTACGGAAGGCTGAAT	0.463000														28			16		0	0	0.000566183	0	0
OR5H15	403274	broad.mit.edu	37	3	97888154	97888154	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:97888154G>A	uc011bgu.2	+	0	611	c.611G>A	c.(610-612)gGt>gAt	p.G204D		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S203T(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ATTTTCTCAGGTTCAATTCAG	0.323000														16			7		0	0	0.000274275	0	0
NAB2	4665	broad.mit.edu	37	12	57485769	57485769	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:57485769C>T	uc001smz.3	+	1	1323	c.945C>T	c.(943-945)ctC>ctT	p.L315L		NM_005967	NP_005958	Q15742	NAB2_HUMAN	Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA.	315	NCD2.				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GCAAGCAGCTCAGCCTGCACG	0.547000														36			10		0	0	0.000442599	0	0
BDP1	55814	broad.mit.edu	37	5	70805569	70805569	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:70805569C>T	uc003kbp.1	+	16	2913	c.2650C>T	c.(2650-2652)Ccc>Tcc	p.P884S	BDP1_uc003kbn.1_Missense_Mutation_p.P884S|BDP1_uc003kbo.3_Missense_Mutation_p.P884S	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	884	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AGCCATTTCTCCCAGGGAGAA	0.418000														19			18		0	0	0.000566183	0	0
PPFIA2	8499	broad.mit.edu	37	12	81734965	81734965	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:81734965C>T	uc001szo.2	-	19	2446	c.2285G>A	c.(2284-2286)gGt>gAt	p.G762D	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.G688D|PPFIA2_uc021rbh.1_Missense_Mutation_p.G663D|PPFIA2_uc021rbi.1_Missense_Mutation_p.G762D|PPFIA2_uc021rbj.1_Missense_Mutation_p.G762D|PPFIA2_uc021rbk.1_Missense_Mutation_p.G744D|PPFIA2_uc021rbl.1_Missense_Mutation_p.G762D|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.G329D|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.	688										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						GTCCTCTCGACCATCTTCTTC	0.393000														45			19		0	0	0.000958276	0	0
UCP3	7352	broad.mit.edu	37	11	73715038	73715038	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:73715038G>C	uc001our.3	-	5	1013	c.658C>G	c.(658-660)Cac>Gac	p.H220D	UCP3_uc001ous.2_Missense_Mutation_p.H220D	NM_003356	NP_003347	P55916	UCP3_HUMAN	Homo sapiens uncoupling protein 3 (mitochondrial, proton carrier) (UCP3), nuclear gene encoding mitochondrial protein, transcript variant long, mRNA.	220					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					GAGACAAAGTGGCAGGGGAAG	0.532000														20			6		0	0	0.00116845	0	0
EIF3L	51386	broad.mit.edu	37	22	38273740	38273740	+	Silent	SNP	C	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr22:38273740C>A	uc003auf.3	+	10	1215	c.1137C>A	c.(1135-1137)ccC>ccA	p.P379P	EIF3L_uc011ann.2_Silent_p.P331P|EIF3L_uc003aug.3_Silent_p.P271P	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit L (EIF3L), transcript variant 1, mRNA.	379						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGATGTACCCCATGCGTATTG	0.512000														54			21		1.00905e-13	6.82628e-13	0.00121646	1	0
RP1L1	94137	broad.mit.edu	37	8	10469143	10469143	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:10469143C>T	uc003wtc.3	-	3	2694	c.2465G>A	c.(2464-2466)cGa>cAa	p.R822Q		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	822					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)		GCAGTGGCTTCGGTGGGGGCC	0.701000														21			14		0	0	0.000219431	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407513	1407513	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chrX:1407513G>A	uc010nct.2	+	5	643	c.321G>A	c.(319-321)caG>caA	p.Q107Q	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Silent_p.Q107Q|CSF2RA_uc004cpq.2_Silent_p.Q107Q|CSF2RA_uc004cpn.2_Silent_p.Q107Q|CSF2RA_uc004cpo.2_Silent_p.Q107Q|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Silent_p.Q107Q|CSF2RA_uc010ncv.2_Silent_p.Q107Q|CSF2RA_uc004cpr.2_Silent_p.Q107Q	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	107						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)	GATTTCAACAGAAACTGCTTT	0.453000														91			96		0	0	0.000781405	0	0
SLC12A6	9990	broad.mit.edu	37	15	34547529	34547529	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:34547529G>A	uc001zhw.3	-	6	974	c.810C>T	c.(808-810)ctC>ctT	p.L270L	SLC12A6_uc001zhv.3_Silent_p.L219L|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Silent_p.L255L|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Silent_p.L211L|SLC12A6_uc001zib.3_Silent_p.L261L|SLC12A6_uc001zic.3_Silent_p.L270L|SLC12A6_uc010bau.3_Silent_p.L270L|SLC12A6_uc001zid.3_Silent_p.L211L|SLC12A6_uc001zhu.3_Silent_p.L82L	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	270					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GATAAAAGCAGAGGCCAACAG	0.443000														97			17		0	0	0.000422831	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558471	106558471	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:106558471C>T	uc009yxn.1	-	8	2486	c.2096G>A	c.(2095-2097)cGa>cAa	p.R699Q	GUCY1A2_uc001pjg.1_Missense_Mutation_p.R668Q|GUCY1A2_uc010rvo.1_Missense_Mutation_p.R689Q	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	668					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.E698V(1)|p.V699L(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		ACTTTCTTCTCGTTTTAATAA	0.403000														52			43		0	0	0.000374591	0	0
EHD4	30844	broad.mit.edu	37	15	42193093	42193093	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:42193093G>A	uc001zot.3	-	5	1439	c.1376C>T	c.(1375-1377)tCg>tTg	p.S459L		NM_139265	NP_644670	Q9H223	EHD4_HUMAN	Homo sapiens EH-domain containing 4 (EHD4), mRNA.	459	EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		ATTGATGGGCGACAGAGTGTA	0.602000														39			8		0	0	0.000274275	0	0
GPR78	27201	broad.mit.edu	37	4	8582880	8582880	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:8582880G>A	uc003glk.3	+	0	664	c.171G>A	c.(169-171)gcG>gcA	p.A57A	GPR78_uc021xlj.1_Intron|CPZ_uc003gll.3_Non-coding_Transcript	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.	57					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						TGCTGGCGGCGCTGGACATGC	0.662000														23			6		0	0	0.00116845	0	0
OR2M7	391196	broad.mit.edu	37	1	248487313	248487313	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:248487313G>A	uc010pzk.2	-	0	558	c.558C>T	c.(556-558)atC>atT	p.I186I		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	186					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)			TGCATGAGAGGATTAGTAGGG	0.423000														205			39		0	0	0.00128727	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130342971	130342971	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:130342971C>T	uc010scd.2	+	7	2108	c.2108C>T	c.(2107-2109)cCc>cTc	p.P703L		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	703	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GTGGCCATCCCCGCAGGCGCC	0.592000														54			15		0	0	0.000422831	0	0
EYA1	2138	broad.mit.edu	37	8	72127949	72127949	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:72127949C>G	uc003xyu.3	-	14	2015	c.1375G>C	c.(1375-1377)Gct>Cct	p.A459P	EYA1_uc003xyt.4_Missense_Mutation_p.A426P|EYA1_uc003xyr.4_Missense_Mutation_p.A424P|EYA1_uc010lzf.3_Missense_Mutation_p.A386P|EYA1_uc003xys.4_Missense_Mutation_p.A459P|EYA1_uc011lfe.2_Missense_Mutation_p.A453P|EYA1_uc003xyv.3_Missense_Mutation_p.A337P	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	459					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TCCCTCTTAGCTGGACCAAGC	0.473000														26			7		0	0	8.12818e-05	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693433	187693433	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:187693433T>G	uc002upu.1	-	8	1220	c.1180A>C	c.(1180-1182)Act>Cct	p.T394P		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	394					apoptosis		zinc ion binding			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)			TTTTTCCAAGTTAAAGGGTTA	0.348000														19			16		0	0	0.000422831	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986421	51986421	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:51986421A>G	uc002pwv.1	+	4	1007	c.1007A>G	c.(1006-1008)aAc>aGc	p.N336S		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	336	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCCCTCCTGAACTTCTCAGAT	0.517000														84			26		0	0	0.00047179	0	0
C1orf227	149643	broad.mit.edu	37	1	213009387	213009387	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:213009387C>T	uc001hjq.3	-	1	213	c.105G>A	c.(103-105)gtG>gtA	p.V35V		NM_001024601	NP_001019772	Q537H7	CA227_HUMAN	Homo sapiens chromosome 1 open reading frame 227 (C1orf227), mRNA.	35										kidney(1)|large_intestine(1)|lung(1)	3						TGCTTCGTTCCACCAAGCAGT	0.418000														150			30		0	0	0.000339439	0	0
PLCG2	5336	broad.mit.edu	37	16	81819628	81819628	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:81819628G>A	uc002fgt.3	+	1	212	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	PLCG2_uc010chg.1_Missense_Mutation_p.E12K	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	12					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						TTCCCTTGCGGAATATGAGAA	0.552000														41			18		0	0	0.000566183	0	0
TMOD1	7111	broad.mit.edu	37	9	100361935	100361935	+	Silent	SNP	G	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:100361935G>T	uc004axl.2	+	9	1171	c.1035G>T	c.(1033-1035)gcG>gcT	p.A345A	TMOD1_uc004axk.2_Silent_p.A345A	NM_001166116	NP_003266	P28289	TMOD1_HUMAN	Homo sapiens tropomodulin 1 (TMOD1), transcript variant 2, mRNA.	345					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)		GGAGGCTTGCGGACCTGACTG	0.522000											OREG0019346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		45			4		0.000602214	0.00398546	0.000602214	1	0
TG	7038	broad.mit.edu	37	8	134144179	134144179	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:134144179C>T	uc003ytw.3	+	45	8027	c.7986C>T	c.(7984-7986)ttC>ttT	p.F2662F	TG_uc010mdw.3_Silent_p.F1421F|TG_uc011ljb.2_Silent_p.F1031F|TG_uc011ljc.2_Silent_p.F795F	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2662					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)		TTTCCCACTTCATCAGATCAG	0.493000														69			22		0	0	0.00047179	0	0
DNAH5	1767	broad.mit.edu	37	5	13823393	13823393	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:13823393C>T	uc003jfd.2	-	39	6708	c.6666G>A	c.(6664-6666)ctG>ctA	p.L2222L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2222					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)					TTGCTGCTTCCAGTTCAGGGT	0.413000									Kartagener syndrome					104			27		0	0	0.00106085	0	0
C2orf71	388939	broad.mit.edu	37	2	29294562	29294562	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:29294562C>T	uc002rmt.2	-	0	2566	c.2566G>A	c.(2566-2568)Gag>Aag	p.E856K		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	856					response to stimulus|visual perception	photoreceptor outer segment				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						GGGGAGTTCTCTGTGGACTTG	0.602000														52			33		0	0	0.000491102	0	0
TLR4	7099	broad.mit.edu	37	9	120476725	120476725	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:120476725G>A	uc004bjz.3	+	2	2610	c.2319G>A	c.(2317-2319)aaG>aaA	p.K773K	TLR4_uc004bkb.3_Silent_p.K573K|TLR4_uc004bka.3_Silent_p.K733K	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	773	TIR.				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						TCCTGCAGAAGGTGGAGAAGA	0.542000														52			11		0	0	0.000673444	0	0
FAM193A	8603	broad.mit.edu	37	4	2701826	2701826	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:2701826C>T	uc010ick.3	+	17	3655	c.3654C>T	c.(3652-3654)ctC>ctT	p.L1218L	FAM193A_uc003gfd.3_Silent_p.L1018L|FAM193A_uc011bvm.2_Silent_p.L1040L|FAM193A_uc011bvn.2_Silent_p.L1018L|FAM193A_uc010icl.3_Silent_p.L1018L|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Silent_p.L872L	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	1018										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						AATTTCTCCTCCCCAAGGAGG	0.547000														41			32		0	0	0.000409698	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049328	42049328	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:42049328G>A	uc001cgz.4	-	3	2354	c.1141C>T	c.(1141-1143)Ctg>Ttg	p.L381L	HIVEP3_uc001cha.4_Silent_p.L381L|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.	381	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.				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)				CCTGGGCTCAGAAACGCCTGC	0.567000														41			11		0	0	0.000673444	0	0
SHANK2	22941	broad.mit.edu	37	11	70331907	70331907	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:70331907C>T	uc001oqc.3	-	20	4405	c.4293G>A	c.(4291-4293)cgG>cgA	p.R1431R	SHANK2_uc010rqn.2_Silent_p.R907R|SHANK2_uc001opz.3_Silent_p.R902R|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1118	SAM.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGCTGCTACTCCGGCTGTCCA	0.592000														28			28		0	0	0.00106085	0	0
COL22A1	169044	broad.mit.edu	37	8	139833411	139833411	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:139833411C>T	uc003yvd.3	-	6	1660	c.1213G>A	c.(1213-1215)Ggc>Agc	p.G405S		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	405	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGGCGCTTGCCAATCACAGTC	0.597000										HNSCC(7;0.00092)				24			9		0	0	0.000978159	0	0
MYO15A	51168	broad.mit.edu	37	17	18051410	18051410	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:18051410G>A	uc021trm.1	+	29	6796	c.6577G>A	c.(6577-6579)Ggc>Agc	p.G2193S	MYO15A_uc021trl.1_Missense_Mutation_p.G2191S	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2193	MyTH4 1.|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)					GCAGGCCATGGGCCGGGCCCA	0.627000														39			22		0	0	0.000375601	0	0
ATP2B4	493	broad.mit.edu	37	1	203669940	203669940	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:203669940G>A	uc001gzw.3	+	5	1687	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	ATP2B4_uc001gzv.3_Missense_Mutation_p.E264K|ATP2B4_uc009xaq.3_Missense_Mutation_p.E264K	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	264					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCATGTCATGGAAGGTTCTGG	0.458000														66			6		0	0	8.12818e-05	0	0
VPS54	51542	broad.mit.edu	37	2	64147595	64147595	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:64147595C>T	uc002scq.3	-	13	2199	c.2036G>A	c.(2035-2037)aGa>aAa	p.R679K	VPS54_uc002scp.3_Missense_Mutation_p.R667K|VPS54_uc002scn.3_5'Flank|VPS54_uc002sco.3_Missense_Mutation_p.R164K|VPS54_uc010fct.3_Missense_Mutation_p.R526K	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	Homo sapiens vacuolar protein sorting 54 homolog (S. cerevisiae) (VPS54), transcript variant 1, mRNA.	679				EER -> VGG (in Ref. 1; AAF37319).	protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						CTTGGTTTTTCTCTCTTCATG	0.348000														36			23		0	0	0.000586117	0	0
COL5A3	50509	broad.mit.edu	37	19	10116637	10116637	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:10116637G>A	uc002mmq.1	-	2	358	c.272C>T	c.(271-273)tCc>tTc	p.S91F		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	91	TSP N-terminal.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GATCAGCAAGGAGAAGTTCTC	0.617000														23			17		0	0	0.00074312	0	0
NUSAP1	51203	broad.mit.edu	37	15	41643263	41643263	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:41643263A>T	uc001zns.4	+	3	648	c.384A>T	c.(382-384)agA>agT	p.R128S	NUSAP1_uc001znr.4_Missense_Mutation_p.R128S|NUSAP1_uc001znt.4_Missense_Mutation_p.R113S|NUSAP1_uc001znv.4_Missense_Mutation_p.R127S|NUSAP1_uc010ucw.2_Missense_Mutation_p.R105S|NUSAP1_uc010bce.3_Missense_Mutation_p.R128S|NUSAP1_uc001znu.4_Missense_Mutation_p.R127S|NUSAP1_uc001znw.4_5'UTR	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN	Homo sapiens nucleolar and spindle associated protein 1 (NUSAP1), transcript variant 1, mRNA.	128					cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		AGGATCTCAGAGCTACTGCAA	0.378000														21			15		0	0	0.000219431	0	0
MGMT	4255	broad.mit.edu	37	10	131506261	131506261	+	Silent	SNP	C	T	T	rs112373357		TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:131506261C>T	uc001lkh.2	+	2	347	c.321C>T	c.(319-321)atC>atT	p.I107I		NM_002412	NP_002403	B4DEE8	B4DEE8_HUMAN	Homo sapiens O-6-methylguanine-DNA methyltransferase (MGMT), mRNA.	107								p.V106V(1)|p.I76I(1)		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)		CCGAGGCTATCGAAGAGTTCC	0.597000								Direct reversal of damage						53			19		0	0	0.00121646	0	0
SLC22A6	9356	broad.mit.edu	37	11	62744811	62744811	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:62744811G>A	uc001nwk.3	-	8	1743	c.1410C>T	c.(1408-1410)atC>atT	p.I470I	SLC22A6_uc001nwl.3_Intron|SLC22A6_uc001nwj.3_Silent_p.I470I|SLC22A6_uc001nwm.3_Intron	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	470					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTGGGCTCACGATGCTGCCCA	0.622000														25			6		0	0	8.12818e-05	0	0
NTRK1	4914	broad.mit.edu	37	1	156843583	156843583	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:156843583G>A	uc001fqh.1	+	7	1065	c.1009G>A	c.(1009-1011)Gcc>Acc	p.A337T	NTRK1_uc001fqf.1_Missense_Mutation_p.A307T|NTRK1_uc009wsi.1_Missense_Mutation_p.A42T|NTRK1_uc001fqi.1_Missense_Mutation_p.A337T|NTRK1_uc009wsk.1_Missense_Mutation_p.A337T	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	337	Ig-like C2-type 2.				Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.A336E(3)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GGAGCCGGCAGCCAATGAGAC	0.632000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				11			9		0	0	0.00136819	0	0
SOCS2	8835	broad.mit.edu	37	12	93968909	93968909	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:93968909C>T	uc001tcw.1	+	2	1141	c.551C>T	c.(550-552)cCa>cTa	p.P184L	SOCS2_uc021rbx.1_Missense_Mutation_p.P184L|SOCS2_uc001tcy.1_Missense_Mutation_p.P184L|SOCS2_uc001tcz.3_3'UTR	NM_003877	NP_003868	O14508	SOCS2_HUMAN	Homo sapiens suppressor of cytokine signaling 2 (SOCS2), mRNA.	184	SOCS box.				JAK-STAT cascade|anti-apoptosis|growth hormone receptor signaling pathway|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|growth hormone receptor binding|insulin-like growth factor receptor binding|prolactin receptor binding			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						CTGCCTTTACCAACAAGACTA	0.408000														32			5		0	0	0.000602214	0	0
PTPN4	5775	broad.mit.edu	37	2	120702673	120702673	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:120702673G>A	uc002tmf.1	+	15	2143	c.1372G>A	c.(1372-1374)Gga>Aga	p.G458R	PTPN4_uc010flj.1_Missense_Mutation_p.G171R|PTPN4_uc010yyr.1_Missense_Mutation_p.G91R	NM_002830	NP_002821	P29074	PTN4_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) (PTPN4), mRNA.	458						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	AGAGACCCCTGGAGATGGGAA	0.373000														55			12		0	0	0.000151284	0	0
CASP10	843	broad.mit.edu	37	2	202074282	202074282	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:202074282C>A	uc002uxj.1	+	8	1830	c.1412C>A	c.(1411-1413)cCa>cAa	p.P471Q	CASP10_uc010ftb.2_3'UTR|CASP10_uc010fta.1_Missense_Mutation_p.P404Q|CASP10_uc002uxk.1_Missense_Mutation_p.P428Q|CASP10_uc002uxl.2_Missense_Mutation_p.P471Q|CASP10_uc002uxm.2_Missense_Mutation_p.P428Q	NM_032977	NP_116759	Q92851	CASPA_HUMAN	Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA.	471					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding	p.P471Q(3)		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						AAATTGGTCCCAAGGTGAGAG	0.388000														110			7		0.000157383	0.00104971	0.000157383	1	0
MLL	4297	broad.mit.edu	37	11	118344497	118344497	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:118344497G>A	uc001pta.3	+	2	2646	c.2623G>A	c.(2623-2625)Gag>Aag	p.E875K	MLL_uc001ptb.3_Missense_Mutation_p.E875K|MLL_uc001psz.1_Missense_Mutation_p.E908K|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.	875					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)		caagagtagagagagagaccg	0.473000			"""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"""									11			20		0	0	0.000958276	0	0
CNKSR2	22866	broad.mit.edu	37	X	21613508	21613508	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chrX:21613508G>A	uc004czx.2	+	16	2451	c.1971G>A	c.(1969-1971)atG>atA	p.M657I	CNKSR2_uc004czw.3_Missense_Mutation_p.M657I|CNKSR2_uc011mjn.2_Missense_Mutation_p.M608I|CNKSR2_uc011mjo.2_Missense_Mutation_p.M627I|CNKSR2_uc004czy.3_Missense_Mutation_p.M249I	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	657	PH.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TTGATGATATGAACAGGTAAA	0.323000														12			32		0	0	0.000491102	0	0
MBL2	4153	broad.mit.edu	37	10	54528199	54528199	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:54528199C>T	uc001jjt.3	-	3	510	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	149	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TTCACTTTTTCAAAGGTCATT	0.473000														79			28		0	0	0.00106085	0	0
GANC	2595	broad.mit.edu	37	15	42641592	42641593	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:42641592_42641593GG>TT	uc001zpi.3	+	21	2744_2745	c.2430_2431GG>TT	c.(2428-2433)gtgggt>gtTTgt	p.G811C	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.	811					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)		GTTCTTCAGTGGGTGAGTTATA	0.396000														117			6		0	0	6.4e-05	0	0
SCN10A	6336	broad.mit.edu	37	3	38753871	38753871	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:38753871G>A	uc003ciq.3	-	21	3870	c.3870C>T	c.(3868-3870)atC>atT	p.I1290I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1290					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)	TGAGCCAGAAGATGAGGCAGA	0.527000														39			13		0	0	0.000151284	0	0
TRANK1	9881	broad.mit.edu	37	3	36898686	36898686	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:36898686G>A	uc003cgj.3	-	11	2643	c.2395C>T	c.(2395-2397)Ctg>Ttg	p.L799L		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	799					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						AGCTTCTTCAGCATTTCTGAA	0.512000														120			59		0	0	0.000781405	0	0
CSMD2	114784	broad.mit.edu	37	1	34087804	34087804	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:34087804G>A	uc001bxm.1	-	36	5967	c.5790C>T	c.(5788-5790)atC>atT	p.I1930I	CSMD2_uc001bxn.1_Silent_p.I1890I|CSMD2_uc001bxo.1_Silent_p.I803I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1890	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)				CAGATACGCTGATATCTGAGT	0.517000														51			58		0	0	0.000781405	0	0
PRKCG	5582	broad.mit.edu	37	19	54403571	54403571	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:54403571C>T	uc002qcq.1	+	11	1648	c.1366C>T	c.(1366-1368)Cat>Tat	p.H456Y	PRKCG_uc010yeg.1_Missense_Mutation_p.H456Y|PRKCG_uc010yeh.1_Missense_Mutation_p.H343Y	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	456	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TAAGGAGCCCCATGCAGCGTG	0.592000														22			8		0	0	0.000157383	0	0
GCG	2641	broad.mit.edu	37	2	163000618	163000618	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:163000618G>A	uc002ucc.3	-	4	711	c.455C>T	c.(454-456)tCt>tTt	p.S152F		NM_002054	NP_002045	P01275	GLUC_HUMAN	Homo sapiens glucagon (GCG), mRNA.	152					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	CATCTCATCAGAGAAAGAACC	0.393000														74			18		0	0	0.00121646	0	0
MYOF	26509	broad.mit.edu	37	10	95097616	95097616	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:95097616C>T	uc001kin.3	-	39	4516	c.4393G>A	c.(4393-4395)Gaa>Aaa	p.E1465K	MYOF_uc001kio.3_Missense_Mutation_p.E1452K|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1465					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						CCGCATTTTTCATGTTCCCCT	0.423000														53			17		0	0	0.00152264	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475705	140475705	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:140475705C>T	uc003lil.3	+	0	1469	c.1331C>T	c.(1330-1332)tCc>tTc	p.S444F	PCDHB2_uc003lim.1_Missense_Mutation_p.S105F	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	444	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCTGGTCTCCGACGTCAAT	0.607000														36			43		0	0	0.000680045	0	0
CC2D2A	57545	broad.mit.edu	37	4	15556783	15556783	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:15556783A>G	uc010idv.2	+	20	2820	c.2575A>G	c.(2575-2577)Aag>Gag	p.K859E	CC2D2A_uc003gnx.3_Missense_Mutation_p.K810E|CC2D2A_uc003gnz.1_Non-coding_Transcript|CC2D2A_uc003goa.1_Non-coding_Transcript	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2A (CC2D2A), transcript variant 1, mRNA.	859					cell projection organization	cilium|microtubule basal body		p.K810Q(1)		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						AGCAGAGTCCAAGCTCGACCC	0.468000														33			8		0	0	0.000274275	0	0
SLC17A5	26503	broad.mit.edu	37	6	74351495	74351495	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:74351495G>A	uc003phn.4	-	2	572	c.444C>T	c.(442-444)gtC>gtT	p.V148V	SLC17A5_uc010kay.3_Non-coding_Transcript|SLC17A5_uc011dyo.1_Missense_Mutation_p.P47S	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN	Homo sapiens solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5), mRNA.	148					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	p.A147V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACAGGGTGAGGACAGCAGTGC	0.453000														65			33		0	0	0.000409698	0	0
RXFP2	122042	broad.mit.edu	37	13	32376445	32376445	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr13:32376445C>T	uc001utt.3	+	17	2239	c.2168C>T	c.(2167-2169)tCt>tTt	p.S723F	RXFP2_uc010aba.3_Missense_Mutation_p.S699F	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	723						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AAAAGTTTATCTACATCCATT	0.353000														197			50		0	0	0.000781405	0	0
BANK1	55024	broad.mit.edu	37	4	102783700	102783700	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:102783700C>T	uc003hvy.4	+	3	916	c.642C>T	c.(640-642)ttC>ttT	p.F214F	BANK1_uc003hvx.4_Silent_p.F199F|BANK1_uc010ill.3_Silent_p.F81F|BANK1_uc003hvz.4_Silent_p.F184F	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	214	DBB.				B cell activation					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)		GTGAAATATTCATAATTTTGA	0.318000														39			15		0	0	0.000422831	0	0
MUC16	94025	broad.mit.edu	37	19	9061972	9061972	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:9061972C>T	uc002mkp.3	-	2	25678	c.25474G>A	c.(25474-25476)Gaa>Aaa	p.E8492K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8494	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						ATGGCACTTTCTGCTGATTCT	0.498000														118			43		0	0	0.000589545	0	0
LYVE1	10894	broad.mit.edu	37	11	10585851	10585851	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:10585851C>T	uc001miv.2	-	1	442	c.156G>A	c.(154-156)ctG>ctA	p.L52L	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.	52	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)		CTGTGAAATTCAGCTGCTGGT	0.483000														37			15		0	0	0.000219431	0	0
GABRG2	2566	broad.mit.edu	37	5	161569245	161569245	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:161569245C>T	uc010jjc.3	+	7	1323	c.965C>T	c.(964-966)cCc>cTc	p.P322L	GABRG2_uc003lyy.4_Missense_Mutation_p.P282L|GABRG2_uc003lyz.4_Missense_Mutation_p.P282L|GABRG2_uc011dej.2_Missense_Mutation_p.P187L	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	282					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding	p.A322T(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ACCTATATCCCCTGCACACTC	0.438000														41			63		0	0	0.000781405	0	0
IGHE	3497	broad.mit.edu	37	14	106066504	106066504	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:106066504C>T	uc001yrw.1	-	4	1240	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Missense_Mutation_p.E357K|epsilon_IgE_uc010axp.1_5'Flank|IGHE_uc001yru.2_Non-coding_Transcript					RecName: Full=Ig epsilon chain C region;																		TGCTCCCATTCGGCCCTGGTC	0.632000														36			29		0	0	0.000878237	0	0
CATSPERB	79820	broad.mit.edu	37	14	92091309	92091309	+	Silent	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:92091309C>T	uc001xzs.1	-	17	1925	c.1785G>A	c.(1783-1785)acG>acA	p.T595T	CATSPERB_uc010aub.1_Silent_p.T117T	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	595					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)				CTTTAGGAGTCGTATGTTGCA	0.343000														36			12		0	0	0.000219431	0	0
MORN5	254956	broad.mit.edu	37	9	124929181	124929181	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:124929181G>A	uc011lyn.2	+	1	244	c.182G>A	c.(181-183)gGa>gAa	p.G61E	MORN5_uc011lyo.1_Missense_Mutation_p.G61E|MORN5_uc004blw.2_Missense_Mutation_p.G61E	NM_198469	NP_940871	Q5VZ52	MORN5_HUMAN	Homo sapiens MORN repeat containing 5 (MORN5), mRNA.	61										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						TGGGAAAACGGATTGGCCATA	0.547000														21			4		0	0	0.000602214	0	0
CHST12	55501	broad.mit.edu	37	7	2473051	2473051	+	Silent	SNP	C	T	T	rs147486579		TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:2473051C>T	uc003smc.3	+	1	940	c.777C>T	c.(775-777)ttC>ttT	p.F259F	CHST12_uc003smd.3_Silent_p.F259F|CHST12_uc021zyu.1_Silent_p.F259F|CHST12_uc021zyv.1_Silent_p.F259F	NM_001243794	NP_001230723	Q9NRB3	CHSTC_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 12 (CHST12), transcript variant 1, mRNA.	259					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GCAGCAAGTTCGAGCTGGAGA	0.632000														56			42		0	0	0.000509022	0	0
CLCA3P	9629	broad.mit.edu	37	1	87104551	87104551	+	RNA	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:87104551C>T	uc010osh.2	+	4		c.586C>T								Homo sapiens chloride channel accessory 3, pseudogene (CLCA3P), non-coding RNA.											endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						ATGTTCCACTCGTATTACTGT	0.378000														7			11		0	0	0.00136819	0	0
MYH1	4619	broad.mit.edu	37	17	10400637	10400637	+	Missense_Mutation	SNP	C	T	T	rs139013228		TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:10400637C>T	uc002gmo.3	-	31	4592	c.4498G>A	c.(4498-4500)Gaa>Aaa	p.E1500K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1500						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.E1500K(2)		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						TTCAAGGTTTCAAGTTGGTCT	0.328000														54			32		0	0	0.00111076	0	0
GPR128	84873	broad.mit.edu	37	3	100354664	100354664	+	Silent	SNP	A	C	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:100354664A>C	uc003duc.3	+	4	859	c.591A>C	c.(589-591)tcA>tcC	p.S197S	GPR128_uc011bhc.2_5'UTR	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	197					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GAAATGCTTCACCTGAGGTAA	0.368000														20			4		0	0	0.00024832	0	0
E2F8	79733	broad.mit.edu	37	11	19247144	19247144	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:19247144G>A	uc001mpm.3	-	11	2567	c.2045C>T	c.(2044-2046)tCa>tTa	p.S682L	E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Missense_Mutation_p.S682L	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	682					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAGTTCAGATGATGTCACTGG	0.453000														39			28		0	0	0.000409698	0	0
MBD5	55777	broad.mit.edu	37	2	149247024	149247024	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:149247024C>T	uc002twm.4	+	11	4121	c.3124C>T	c.(3124-3126)Cct>Tct	p.P1042S	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_Missense_Mutation_p.P300S|MBD5_uc002twp.3_Missense_Mutation_p.P92S	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1042						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CACAGCACTTCCTGAGAATCC	0.468000														33			6		0	0	0.00116845	0	0
ANKRD26P3	100101938	broad.mit.edu	37	13	19868713	19868713	+	RNA	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr13:19868713C>T	uc010tck.2	-	12		c.1915G>A								Homo sapiens ankyrin repeat domain 26 pseudogene 3 (ANKRD26P3), non-coding RNA.																		AGTGCTATCTCCTTTTGTTTG	0.373000														5			4		0	0	0.00024832	0	0
TEKT1	83659	broad.mit.edu	37	17	6718550	6718550	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:6718550G>A	uc002gdt.3	-	4	671	c.561C>T	c.(559-561)atC>atT	p.I187I	TEKT1_uc010vth.2_Silent_p.I41I	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	Homo sapiens tektin 1 (TEKT1), mRNA.	187					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.I187I(2)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GCGAGAAGCAGATATCATCTA	0.488000														86			40		0	0	0.000509022	0	0
NLRP10	338322	broad.mit.edu	37	11	7984855	7984855	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:7984855G>A	uc001mfv.1	-	0	205	c.188C>T	c.(187-189)tCa>tTa	p.S63L		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	63	DAPIN.						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)		TCCATACTTTGAAATCAGTAA	0.517000														51			16		0	0	0.00121646	0	0
C15orf27	123591	broad.mit.edu	37	15	76494549	76494549	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:76494549C>T	uc002bbq.3	+	9	1120	c.965C>T	c.(964-966)aCg>aTg	p.T322M	C15orf27_uc010bkp.3_Missense_Mutation_p.T138M|C15orf27_uc002bbr.3_Missense_Mutation_p.T138M|C15orf27_uc002bbs.3_5'UTR	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.	322						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GTAGAAGCCACGATGAAGGAC	0.532000														32			35		0	0	0.000374591	0	0
CEBPE	1053	broad.mit.edu	37	14	23588016	23588016	+	Silent	SNP	G	A	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:23588016G>A	uc001wiv.2	-	0	805	c.285C>T	c.(283-285)ttC>ttT	p.F95F		NM_001805	NP_001796	Q15744	CEBPE_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), epsilon (CEBPE), mRNA.	95						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.F95F(2)		large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TGTCTGGGCCGAAGGTATGTG	0.697000														16			6		0	0	0.00116845	0	0
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:32670247_32670248delTG	uc021okt.1	+	4	706_707	c.574_575delTG	c.(574-576)tgtfs	p.C192fs	CCDC28B_uc001bul.1_Intron|IQCC_uc001bum.2_5'Flank|IQCC_uc009vua.2_5'Flank|IQCC_uc010ogz.1_5'Flank	NM_024296	NP_077272	Q9BUN5	CC28B_HUMAN	Homo sapiens coiled-coil domain containing 28B (CCDC28B), mRNA.	0								p.A192V(1)		large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.500													---	158	---	---	7	---					
ATXN1	6310	broad.mit.edu	37	6	16327864	16327865	+	In_Frame_Ins	INS	-	TGC	TGC			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:16327864_16327865insTGC	uc003nbt.3	-	7	1648_1649	c.677_678insGCA	c.(676-678)cac>caGCAc	p.225_226insQ	ATXN1_uc010jpi.3_In_Frame_Ins_p.225_226insQ|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	225	Poly-Gln.				RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCCTGCTGAGGtgctgctgctg	0.653													---	4	---	---	4	---					
HEY1	23462	broad.mit.edu	37	8	80677926	80677927	+	In_Frame_Ins	INS	-	GTT	GTT			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:80677926_80677927insGTT	uc003ybm.3	-	4	611_612	c.411_412insAAC	c.(409-414)insAAC	p.137_138insN	HEY1_uc010lzq.3_In_Frame_Ins_p.18_19insN|HEY1_uc003ybl.3_In_Frame_Ins_p.141_142insN	NM_012258	NP_036390	Q9Y5J3	HEY1_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif 1 (HEY1), transcript variant 1, mRNA.	137	Orange.				Notch signaling pathway|angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|transcription, DNA-dependent	nucleus	DNA binding|protein binding		HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			ATGATGCTCAGATAACGCGCAA	0.530			T	NCOA2	mesenchymal chondrosarcoma						OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	67	---	---	11	---					
TENC1	23371	broad.mit.edu	37	12	53449380	53449380	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:53449380delA	uc001sbp.3	+	8	737	c.602delA	c.(601-603)catfs	p.H201fs	LOC283335_uc001sbk.1_5'Flank|TENC1_uc001sbl.3_Frame_Shift_Del_p.H77fs|TENC1_uc001sbm.3_Frame_Shift_Del_p.H211fs|TENC1_uc001sbn.3_Frame_Shift_Del_p.H211fs|TENC1_uc001sbo.1_Frame_Shift_Del_p.H201fs|TENC1_uc001sbq.3_5'Flank|TENC1_uc001sbr.3_5'Flank	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	201	Phosphatase tensin-type.				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						CCTGAGCTGCATGCTCCACCC	0.612													---	35	---	---	30	---					
YY1	7528	broad.mit.edu	37	14	100705788	100705790	+	In_Frame_Del	DEL	CCA	-	-	rs76675246		TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:100705788_100705790delCCA	uc001ygy.1	+	0	687_689	c.207_209delCCA	c.(205-210)ggccac>ggc	p.H80del		NM_003403	NP_003394	P25490	TYY1_HUMAN	Homo sapiens YY1 transcription factor (YY1), mRNA.	80	Poly-His.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				gGCACGCCGGccaccaccaccac	0.724													---	6	---	---	3	---					
CYP19A1	1588	broad.mit.edu	37	15	51503156	51503163	+	Frame_Shift_Del	DEL	AGTGTAAC	-	-	rs141305220	byFrequency	TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:51503156_51503163delAGTGTAAC	uc001zyz.4	-	10	1605_1612	c.1354_1361delGTTACACT	c.(1354-1362)gttacacttfs	p.V452fs	CYP19A1_uc001zza.4_Frame_Shift_Del_p.V452fs	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	452					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	p.L451I(1)		endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	TCGTCTCAGAAGTGTAACGAGGATGGCT	0.462													---	44	---	---	22	---					
ABCA8	10351	broad.mit.edu	37	17	66871424	66871425	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:66871424_66871425delGA	uc002jhq.3	-	36	4947_4948	c.4607_4608delTC	c.(4606-4608)ttcfs	p.F1536fs	ABCA8_uc002jhp.3_Frame_Shift_Del_p.F1496fs|ABCA8_uc010wqq.2_Frame_Shift_Del_p.F1531fs	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1496						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.D1536A(1)		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)					CAGCCTGGGGGAAAAGCCTCAG	0.465													---	76	---	---	35	---					
