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
PPARGC1A	10891	broad.mit.edu	37	4	23825971	23825971	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:23825971G>A	uc003gqs.3	-	6	929	c.809C>T	c.(808-810)cCc>cTc	p.P270L	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	270					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GGAACCCTTGGGGTCACTGGA	0.408000														96			12		0	0	0.010729	0	0
MYH1	4619	broad.mit.edu	37	17	10415854	10415854	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:10415854C>T	uc002gmo.3	-	11	1112	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	340	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCCAGAATTTCAATGGCACTC	0.398000														20			6		0	0	0.001168	0	0
LCT	3938	broad.mit.edu	37	2	136594497	136594498	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:136594497_136594498GG>AA	uc002tuu.1	-	0	253_254	c.242_243CC>TT	c.(241-243)gcc>gTT	p.A81V		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	81					carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGATCTGACTGGCATGGAGACT	0.510000														42			12		0	0	0.004672	0	0
ADAM22	53616	broad.mit.edu	37	7	87774728	87774728	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:87774728A>G	uc003ujn.3	+	17	1608	c.1393_splice	c.e17-2	p.E465_splice	ADAM22_uc003ujk.2_Splice_Site_p.E465_splice|ADAM22_uc003ujl.2_Splice_Site_p.E465_splice|ADAM22_uc003ujm.3_Splice_Site_p.E465_splice|ADAM22_uc003ujo.3_Splice_Site_p.E465_splice|ADAM22_uc003ujp.1_Splice_Site_p.E517_splice	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	465	Disintegrin.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TATATTCCTTAGGAATGTGTC	0.343000														53			7		0	0	0.001984	0	0
POU4F3	5459	broad.mit.edu	37	5	145719426	145719426	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:145719426C>T	uc003loa.2	+	1	525	c.436C>T	c.(436-438)Cca>Tca	p.P146S		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	Homo sapiens POU class 4 homeobox 3 (POU4F3), mRNA.	146					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACAGATCCATCCACACCACCT	0.677000														23			14		0	0	0.002450	0	0
GFPT2	9945	broad.mit.edu	37	5	179728600	179728600	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:179728600G>A	uc003mlw.1	-	18	2111	c.2013C>T	c.(2011-2013)ttC>ttT	p.F671F		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	671	SIS 2.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GATTTCTGGGGAAGTCAACCT	0.453000														61			24		0	0	0.003954	0	0
FAM83B	222584	broad.mit.edu	37	6	54805297	54805297	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:54805297G>A	uc003pck.3	+	4	1644	c.1528G>A	c.(1528-1530)Gac>Aac	p.D510N		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	510										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGCTACACCGGACTCAAATGG	0.423000														46			6		0	0	0.001168	0	0
MGAM	8972	broad.mit.edu	37	7	141721462	141721462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:141721462C>T	uc003vwy.3	+	5	689	c.635C>T	c.(634-636)tCt>tTt	p.S212F		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	212	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCTGCTGCTTCTTTGACCTAC	0.433000														61			9		0	0	0.006214	0	0
DNER	92737	broad.mit.edu	37	2	230231626	230231626	+	Missense_Mutation	SNP	C	T	T	rs150035332		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:230231626C>T	uc002vpv.3	-	11	2212	c.2065G>A	c.(2065-2067)Gag>Aag	p.E689K		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	689					Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TTGCTGAACTCGCTGTCGATG	0.572000														60			5		0	0	0.000602	0	0
FLT1	2321	broad.mit.edu	37	13	28896930	28896930	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:28896930C>T	uc001usb.3	-	20	3235	c.2950G>A	c.(2950-2952)Gag>Aag	p.E984K	FLT1_uc010aap.2_5'Flank|FLT1_uc010aaq.2_Missense_Mutation_p.E109K|FLT1_uc001usa.3_Missense_Mutation_p.E202K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	984	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.E984D(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TACCTACCCTCCTCTTCCTCA	0.403000														80			11		0	0	0.013537	0	0
THADA	63892	broad.mit.edu	37	2	43726031	43726031	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:43726031G>A	uc002rsw.4	-	24	4037	c.3685C>T	c.(3685-3687)Cct>Tct	p.P1229S	THADA_uc010far.3_Missense_Mutation_p.P498S|THADA_uc002rsx.4_Missense_Mutation_p.P1229S|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Missense_Mutation_p.P938S|THADA_uc010fat.1_Missense_Mutation_p.P376S|THADA_uc002rta.2_Missense_Mutation_p.P939S	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1229							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GCAACATAAGGAATAATATTT	0.373000														180			31		0	0	0.012213	0	0
PREX2	80243	broad.mit.edu	37	8	68992680	68992680	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:68992680C>T	uc003xxv.1	+	15	1672	c.1645C>T	c.(1645-1647)Ctt>Ttt	p.L549F	PREX2_uc003xxu.1_Missense_Mutation_p.L549F|PREX2_uc011lez.1_Missense_Mutation_p.L484F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	549	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTCTGTAGTCCTTGAAAAAAG	0.338000														35			7		0	0	0.003080	0	0
PTPRK	5796	broad.mit.edu	37	6	128312513	128312513	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:128312513C>T	uc003qbk.3	-	19	3269	c.2902G>A	c.(2902-2904)Gat>Aat	p.D968N	PTPRK_uc010kfc.3_Missense_Mutation_p.D975N|PTPRK_uc003qbj.3_Missense_Mutation_p.D969N|PTPRK_uc011ebu.2_Missense_Mutation_p.D991N	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	968	Tyrosine-protein phosphatase 1.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CTCCAGAAATCATACACTGTT	0.328000														29			5		0	0	0.000602	0	0
ZAN	7455	broad.mit.edu	37	7	100350464	100350464	+	Silent	SNP	A	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:100350464A>G	uc003uwj.3	+	13	2901	c.2736A>G	c.(2734-2736)aaA>aaG	p.K912K	ZAN_uc003uwk.3_Silent_p.K912K|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	912	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCCAGAAAAACCCACCATCT	0.517000														39			9		0	0	0.004482	0	0
TECPR2	9895	broad.mit.edu	37	14	102901109	102901109	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:102901109C>T	uc001ylw.2	+	8	2181	c.1955C>T	c.(1954-1956)tCc>tTc	p.S652F	TECPR2_uc010awl.3_Missense_Mutation_p.S652F|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	652							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						ACTGTGCCTTCCAGCCTCAGC	0.602000														21			5		0	0	0.001168	0	0
EPHA8	2046	broad.mit.edu	37	1	22902822	22902822	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:22902822G>A	uc001bfx.1	+	2	397	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	EPHA8_uc001bfw.3_Missense_Mutation_p.R91Q	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	91						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGGGTCCCCCGAGACGGCGCC	0.612000														41			12		0	0	0.013537	0	0
EPHA10	284656	broad.mit.edu	37	1	38197142	38197142	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:38197142C>T	uc009vvi.3	-	6	1690	c.1604G>A	c.(1603-1605)gGg>gAg	p.G535E	EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	535	Fibronectin type-III 2.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.S534Y(1)|p.P535P(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCAGGATGGCCCCGGGGAAGC	0.597000														107			8		0	0	0.003080	0	0
SCN1A	6323	broad.mit.edu	37	2	166909411	166909411	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:166909411C>T	uc002udo.4	-	6	872	c.645G>A	c.(643-645)ttG>ttA	p.L215L	SCN1A_uc010fpk.3_Silent_p.L215L|SCN1A_uc021vsb.1_Silent_p.L215L	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	215						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGAATGTTCTCAATGCCGAGA	0.453000														19			5		0	0	0.001984	0	0
CHRNA4	1137	broad.mit.edu	37	20	61982010	61982010	+	Silent	SNP	G	A	A	rs121912254		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:61982010G>A	uc002yes.2	-	4	931	c.753C>T	c.(751-753)atC>atT	p.I251I	CHRNA4_uc002yet.1_Silent_p.I75I|CHRNA4_uc010gke.1_Silent_p.I180I|CHRNA4_uc002yev.1_Silent_p.I75I|CHRNA4_uc010gkf.1_Silent_p.I75I	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	251					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GGCAGGGGATGATGAGGTTGA	0.592000														42			5		0	0	0.001168	0	0
FAM75D1	389763	broad.mit.edu	37	9	84609196	84609196	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:84609196G>A	uc004amn.3	+	3	3858	c.3811G>A	c.(3811-3813)Gag>Aag	p.E1271K		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	1271						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						ACAGAAGCAGGAGCCCAGGGT	0.542000														60			7		0	0	0.001984	0	0
METTL15	196074	broad.mit.edu	37	11	28311863	28311863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:28311863C>T	uc001msh.2	+	4	973	c.518C>T	c.(517-519)tCc>tTc	p.S173F	METTL15_uc001msg.2_Missense_Mutation_p.S173F|METTL15_uc001mse.2_Missense_Mutation_p.S173F	NM_001113528	NP_001107000	A6NJ78	MET15_HUMAN	Homo sapiens methyltransferase like 15 (METTL15), transcript variant 1, mRNA.	173							methyltransferase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						CTTGGGTGTTCCTCCATGCAA	0.473000														63			22		0	0	0.003330	0	0
AKAP3	10566	broad.mit.edu	37	12	4736365	4736365	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:4736365G>A	uc001qnb.4	-	3	1947	c.1703C>T	c.(1702-1704)cCc>cTc	p.P568L		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	568					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						AGATTCATCGGGAGCTACAGG	0.478000														41			4		0	0	0.009096	0	0
GRAMD4	23151	broad.mit.edu	37	22	47062751	47062751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr22:47062751C>T	uc003bhx.3	+	8	888	c.839C>T	c.(838-840)cCc>cTc	p.P280L	GRAMD4_uc010had.3_Missense_Mutation_p.P219L	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	Homo sapiens GRAM domain containing 4 (GRAMD4), mRNA.	280					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		AGCATCGTGCCCGAAGTGTCT	0.617000														98			9		0	0	0.004482	0	0
abParts	0	broad.mit.edu	37	14	106791043	106791043	+	RNA	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:106791043G>A	uc021ser.1	-	619		c.17349C>T								Parts of antibodies, mostly variable regions.																		TCAGCTCTCAGGCTGTTCATT	0.507000														134			50		0	0	0.014410	0	0
NDST4	64579	broad.mit.edu	37	4	115769495	115769495	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:115769495C>T	uc003ibu.3	-	9	2496	c.1817_splice	c.e9-1	p.G606_splice	NDST4_uc010imw.3_Splice_Site	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	606	Heparan sulfate N-sulfotransferase 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)		GCAGTTGTTCCTGTTACAAAA	0.284000														52			15		0	0	0.003163	0	0
PLCE1	51196	broad.mit.edu	37	10	96018889	96018889	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:96018889G>A	uc001kjk.3	+	12	4430	c.3796G>A	c.(3796-3798)Gat>Aat	p.D1266N	PLCE1_uc010qnx.2_Missense_Mutation_p.D1250N|PLCE1_uc001kjm.3_Missense_Mutation_p.D958N	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1266					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAACACCAGCGATCTTCAGCC	0.468000														83			11		0	0	0.013537	0	0
CARD11	84433	broad.mit.edu	37	7	2959141	2959141	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:2959141G>A	uc003smv.3	-	17	2709	c.2375C>T	c.(2374-2376)aCc>aTc	p.T792I		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	792					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.T785S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CAGGGACATGGTGCAGGCGTC	0.597000			Mis		DLBCL									22			6		0	0	0.001984	0	0
IGF1R	3480	broad.mit.edu	37	15	99500542	99500542	+	Silent	SNP	C	T	T	rs70958400		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:99500542C>T	uc002bul.3	+	20	4025	c.3975C>T	c.(3973-3975)gcC>gcT	p.A1325A	IGF1R_uc010bon.3_Silent_p.A1324A	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	1325					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GACACAAGGCCGAGAACGGCC	0.682000														24			14		0	0	0.002450	0	0
CBLN1	869	broad.mit.edu	37	16	49315257	49315257	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:49315257G>A	uc002efq.3	-	0	486	c.120C>T	c.(118-120)tcC>tcT	p.S40S		NM_004352	NP_004343	P23435	CBLN1_HUMAN	Homo sapiens cerebellin 1 precursor (CBLN1), mRNA.	40					nervous system development|synaptic transmission	cell junction|extracellular region|synapse				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				ACGTGGGGTTGGAGTCGCACA	0.692000														32			7		0	0	0.001984	0	0
H2AFY	9555	broad.mit.edu	37	5	134696251	134696251	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:134696251G>A	uc003lam.1	-	4	734	c.524C>T	c.(523-525)aCc>aTc	p.T175I	H2AFY_uc003lao.1_Missense_Mutation_p.T174I|H2AFY_uc003lan.1_Missense_Mutation_p.T175I|H2AFY_uc011cxz.1_Intron|H2AFY_uc003las.1_Missense_Mutation_p.T175I|H2AFY_uc003lat.1_Missense_Mutation_p.T174I	NM_138610	NP_613258	O75367	H2AY_HUMAN	Homo sapiens H2A histone family, member Y (H2AFY), transcript variant 3, mRNA.	175					chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTGCCCTCGGTTGTGCTGTC	0.597000														51			16		0	0	0.006122	0	0
SLC22A6	9356	broad.mit.edu	37	11	62747245	62747245	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:62747245C>T	uc001nwk.3	-	6	1546	c.1213G>A	c.(1213-1215)Gca>Aca	p.A405T	SLC22A6_uc001nwl.3_Missense_Mutation_p.A405T|SLC22A6_uc001nwj.3_Missense_Mutation_p.A405T|SLC22A6_uc001nwm.3_Missense_Mutation_p.A405T	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	405					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						CAGATGCCTGCCAGCAGCAGT	0.612000														32			4		0	0	0.000602	0	0
GALNT10	55568	broad.mit.edu	37	5	153709196	153709196	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:153709196G>A	uc003lvh.3	+	3	598	c.466G>A	c.(466-468)Gag>Aag	p.E156K	GALNT10_uc003lvg.1_Missense_Mutation_p.E156K|GALNT10_uc010jic.3_Non-coding_Transcript|GALNT10_uc010jid.3_Missense_Mutation_p.E59K	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA.	156	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CTTCCACAACGAGGGCTGGTC	0.582000														36			22		0	0	0.014323	0	0
FRS3	10817	broad.mit.edu	37	6	41743249	41743249	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:41743249G>A	uc003orc.1	-	3	405	c.161C>T	c.(160-162)gCc>gTc	p.A54V		NM_006653	NP_006644	O43559	FRS3_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 3 (FRS3), mRNA.	54	IRS-type PTB.				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCAGCGGACGGCCTCACGCCG	0.612000														28			5		0	0	0.000602	0	0
ASXL3	80816	broad.mit.edu	37	18	31226315	31226315	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr18:31226315G>A	uc010dmg.1	+	3	408	c.353G>A	c.(352-354)gGa>gAa	p.G118E	ASXL3_uc002kxq.2_5'UTR	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAAGAAAATGGAGGTAAGTGT	0.388000														51			5		0	0	0.000602	0	0
ZNF280A	129025	broad.mit.edu	37	22	22868490	22868490	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr22:22868490C>T	uc002zwe.3	-	1	1718	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Missense_Mutation_p.E489K	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ACTTTTGTTTCACGAGGGAAC	0.433000														49			6		0	0	0.001984	0	0
KCNN3	3782	broad.mit.edu	37	1	154687452	154687452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:154687452G>A	uc021pah.1	-	6	2088	c.1774C>T	c.(1774-1776)Cgg>Tgg	p.R592W	KCNN3_uc001ffo.3_Missense_Mutation_p.R272W|KCNN3_uc001ffp.3_Missense_Mutation_p.R577W	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	582	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			CATGTTTCCCGAAGGACATTG	0.403000														67			27		0	0	0.006320	0	0
EHMT1	79813	broad.mit.edu	37	9	140711964	140711965	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:140711964_140711965AC>TT	uc011mfc.2	+	23	3485_3486	c.3448_3449AC>TT	c.(3448-3450)acc>TTc	p.T1150F	EHMT1_uc004coe.3_Missense_Mutation_p.T55F	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	1150	SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CCCACCAGGCACCTTTGTCTGC	0.609000														52			7		0	0	0.004672	0	0
OTOGL	283310	broad.mit.edu	37	12	80714217	80714217	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:80714217C>T	uc001szd.3	+	32	3797	c.3791C>T	c.(3790-3792)tCc>tTc	p.S1264F		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GCACTTGTTTCCTTGGAATCT	0.403000														39			5		0	0	0.001984	0	0
TM4SF1	4071	broad.mit.edu	37	3	149093295	149093295	+	Silent	SNP	T	C	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:149093295T>C	uc003exb.1	-	2	582	c.348A>G	c.(346-348)gcA>gcG	p.A116A	TM4SF1_uc003exc.1_Silent_p.A27A	NM_014220	NP_055035	P30408	T4S1_HUMAN	Homo sapiens transmembrane 4 L six family member 1 (TM4SF1), mRNA.	116						integral to plasma membrane				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GTGGTCCTTCTGCTAAGCCAA	0.478000														33			15		0	0	0.003163	0	0
SUV420H1	51111	broad.mit.edu	37	11	67939171	67939171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:67939171C>T	uc001onm.1	-	6	915	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_Missense_Mutation_p.R48Q|SUV420H1_uc009ysf.2_Intron|SUV420H1_uc001ono.1_Missense_Mutation_p.R220Q|SUV420H1_uc010rqa.1_Missense_Mutation_p.R197Q	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	220	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTTGTCATTTCGTTTCCTATT	0.299000														32			7		0	0	0.001984	0	0
KCNA6	3742	broad.mit.edu	37	12	4919804	4919804	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:4919804C>T	uc001qng.3	+	0	1463	c.597C>T	c.(595-597)ttC>ttT	p.F199F	KCNA6_uc021qtr.1_Silent_p.F199F	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	199						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TACCCCAGTTCCGTGTAGATG	0.557000										HNSCC(72;0.22)				28			4		0	0	0.009096	0	0
THEG	51298	broad.mit.edu	37	19	375772	375772	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:375772C>T	uc002lol.3	-	0	242	c.199G>A	c.(199-201)Gag>Aag	p.E67K	THEG_uc002lom.3_Missense_Mutation_p.E67K	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	67					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCACCTCCTCGGGGGGAAGC	0.612000														90			9		0	0	0.013537	0	0
PVR	5817	broad.mit.edu	37	19	45157261	45157261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:45157261G>A	uc002ozm.3	+	3	1116	c.817G>A	c.(817-819)Gag>Aag	p.E273K	PVR_uc010ejs.3_Missense_Mutation_p.E273K|PVR_uc010xxb.2_Missense_Mutation_p.E273K|PVR_uc010xxc.2_Missense_Mutation_p.E273K|PVR_uc002ozn.3_Missense_Mutation_p.E218K|MIR4531_uc021uvk.1_5'Flank	NM_006505	NP_006496	P15151	PVR_HUMAN	Homo sapiens poliovirus receptor (PVR), transcript variant 1, mRNA.	273	Ig-like C2-type 2.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to T cell mediated cytotoxicity|susceptibility to natural killer cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CAGCAACCCAGAGCCCACAGG	0.602000														285			43		0	0	0.014410	0	0
ITGAX	3687	broad.mit.edu	37	16	31388540	31388540	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:31388540C>T	uc002ebt.3	+	22	2810	c.2743C>T	c.(2743-2745)Cag>Tag	p.Q915*	ITGAX_uc002ebu.1_Nonsense_Mutation_p.Q915*	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	915					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GACCACCTTCCAGCTGGAGCT	0.547000														36			6		0	0	0.001984	0	0
PAN2	9924	broad.mit.edu	37	12	56720705	56720705	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:56720705G>A	uc001skx.3	-	6	1335	c.958C>T	c.(958-960)Cca>Tca	p.P320S	PAN2_uc001skw.3_5'Flank|PAN2_uc001sky.3_Missense_Mutation_p.P320S|PAN2_uc001skz.3_Missense_Mutation_p.P320S	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	320					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	p.N319T(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ATATCGGCTGGGTTGGCCAGG	0.527000														41			5		0	0	0.000602	0	0
SIM2	6493	broad.mit.edu	37	21	38098503	38098503	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr21:38098503G>A	uc002yvr.2	+	5	683	c.627G>A	c.(625-627)ggG>ggA	p.G209G	SIM2_uc002yvq.3_Silent_p.G209G	NM_005069	NP_005060	Q14190	SIM2_HUMAN	Homo sapiens single-minded homolog 2 (Drosophila) (SIM2), transcript variant SIM2, mRNA.	209					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						AGATTGTGGGGCTGGTGGCCG	0.567000														75			6		0	0	0.003080	0	0
BEST3	144453	broad.mit.edu	37	12	70049133	70049133	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:70049133C>T	uc001svg.3	-	9	1788	c.1561G>A	c.(1561-1563)Gat>Aat	p.D521N	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.D308N|BEST3_uc010stm.2_Missense_Mutation_p.D415N	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	521						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GTAGCGGAATCATGGTGGTAG	0.557000														110			19		0	0	0.008871	0	0
PLD5	200150	broad.mit.edu	37	1	242383350	242383350	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:242383350G>A	uc001hzn.2	-	5	902	c.675C>T	c.(673-675)atC>atT	p.I225I	PLD5_uc021pll.1_Silent_p.I133I|PLD5_uc001hzl.4_Silent_p.I163I|PLD5_uc001hzm.4_Silent_p.I17I|PLD5_uc001hzo.2_Silent_p.I133I	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	225	PLD phosphodiesterase 1.					integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GTTTGTCCACGATCCAGAAGG	0.527000														40			11		0	0	0.008291	0	0
HLTF	6596	broad.mit.edu	37	3	148792049	148792049	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:148792049G>A	uc003ewq.1	-	3	700	c.482C>T	c.(481-483)tCa>tTa	p.S161L	HLTF_uc003ewr.1_Missense_Mutation_p.S161L|HLTF_uc003ews.1_Missense_Mutation_p.S161L|HLTF_uc010hve.1_Missense_Mutation_p.S161L	NM_139048	NP_620636	Q14527	HLTF_HUMAN	Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.	161					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CAACTGATCTGAAACCGCTTT	0.353000														35			13		0	0	0.013537	0	0
NASP	4678	broad.mit.edu	37	1	46056914	46056914	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:46056914C>G	uc001coi.2	+	1	238	c.79C>G	c.(79-81)Cct>Gct	p.P27A	NASP_uc010olq.2_Missense_Mutation_p.P27A|NASP_uc021omz.1_Silent_p.L4L|NASP_uc001coj.2_Missense_Mutation_p.P27A|NASP_uc010olr.2_Missense_Mutation_p.P27A	NM_002482	NP_002473	P49321	NASP_HUMAN	Homo sapiens nuclear autoantigenic sperm protein (histone-binding) (NASP), transcript variant 2, mRNA.	27					DNA replication|blastocyst development|cell cycle|cell proliferation|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					TGTTCCTGCTCCTTCTACATC	0.284000														78			21		0	0	0.003330	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921479	12921479	+	Missense_Mutation	SNP	C	T	T	rs140567467		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:12921479C>T	uc001aum.1	+	3	1357	c.1270C>T	c.(1270-1272)Cgt>Tgt	p.R424C		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	424										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCTTGGTTCGTGTCAATTG	0.557000														98			16		0	0	0.003330	0	0
UNC5B	219699	broad.mit.edu	37	10	73048347	73048347	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:73048347G>A	uc001jro.3	+	6	1375	c.924G>A	c.(922-924)tgG>tgA	p.W308*	UNC5B_uc001jrp.3_Nonsense_Mutation_p.W308*	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	308	TSP type-1 2.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GGACGGAGTGGAGCAAGTGGT	0.607000														68			7		0	0	0.001984	0	0
VPS13D	55187	broad.mit.edu	37	1	12321145	12321145	+	Silent	SNP	G	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:12321145G>T	uc001atv.3	+	11	1494	c.1353G>T	c.(1351-1353)ggG>ggT	p.G451G	VPS13D_uc001atw.3_Silent_p.G451G	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	451					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCCCAGAAGGGAATGTGGTTG	0.577000														139			41		2.46787e-29	2.62753e-29	0.014410	1	0
KCNK17	89822	broad.mit.edu	37	6	39267425	39267425	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:39267425G>A	uc003ooo.3	-	4	918	c.777C>T	c.(775-777)atC>atT	p.I259I	KCNK17_uc003oop.3_3'UTR	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN	Homo sapiens potassium channel, subfamily K, member 17 (KCNK17), transcript variant 1, mRNA.	259						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						TGAGTTTGATGATCAAGGCCA	0.557000														105			11		0	0	0.010729	0	0
RAD9B	144715	broad.mit.edu	37	12	110956480	110956480	+	Splice_Site	SNP	G	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:110956480G>T	uc001trf.4	+	7	734	c.596_splice	c.e7-1	p.D199_splice	RAD9B_uc001trg.4_Splice_Site_p.D199_splice|RAD9B_uc010sya.2_Splice_Site_p.D130_splice|RAD9B_uc001tre.4_Splice_Site_p.D127_splice|RAD9B_uc001trd.4_Splice_Site_p.D41_splice	NM_152442	NP_689655	Q6WBX8	RAD9B_HUMAN	Homo sapiens RAD9 homolog B (S. pombe) (RAD9B), mRNA.	196					DNA repair|DNA replication|cell cycle checkpoint	nucleoplasm	protein binding			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						ATATTAAACAGATTTGAGCAA	0.333000														40			4		0.00909568	0.00951714	0.009096	1	0
MYH2	4620	broad.mit.edu	37	17	10428286	10428286	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:10428286C>T	uc010coi.3	-	33	4887	c.4759G>A	c.(4759-4761)Gag>Aag	p.E1587K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1587K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1587					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E1587E(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCAATTTCCTCATCTTTTTCA	0.453000														71			10		0	0	0.008291	0	0
PHKB	5257	broad.mit.edu	37	16	47628101	47628101	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:47628101C>T	uc002eev.4	+	11	1232	c.1180C>T	c.(1180-1182)Cca>Tca	p.P394S	PHKB_uc002eeu.4_Missense_Mutation_p.P387S	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	394					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TCTTTTGACTCCAGTACTTCA	0.318000														24			3		0	0	0.009096	0	0
CMYA5	202333	broad.mit.edu	37	5	79031855	79031855	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:79031855G>A	uc003kgc.3	+	1	7339	c.7267G>A	c.(7267-7269)Gat>Aat	p.D2423N		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2423						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAGTTTAATTGATTTCAGTGA	0.353000														14			9		0	0	0.008291	0	0
LONP2	83752	broad.mit.edu	37	16	48286166	48286166	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:48286166C>T	uc002efi.1	+	1	447	c.358C>T	c.(358-360)Ccc>Tcc	p.P120S	MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Missense_Mutation_p.P120S	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.	120	Lon.				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GAAGCCATATCCCATTGCTGA	0.473000														37			5		0	0	0.000602	0	0
TFAP4	7023	broad.mit.edu	37	16	4312623	4312623	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:4312623C>T	uc010uxg.2	-	1	423	c.169G>A	c.(169-171)Gag>Aag	p.E57K		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	Homo sapiens transcription factor AP-4 (activating enhancer binding protein 4) (TFAP4), mRNA.	57					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CGTCTCCGCTCGTTGCTGTTG	0.617000														85			14		0	0	0.004007	0	0
GPR142	350383	broad.mit.edu	37	17	72368044	72368044	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:72368044C>T	uc021ucp.1	+	3	694	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	GPR142_uc010wqy.2_Missense_Mutation_p.R232C	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	232						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GGCTGTGGTGCGCACGGCCAA	0.642000														24			4		0	0	0.009096	0	0
OR6B1	135946	broad.mit.edu	37	7	143701836	143701836	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:143701836C>T	uc003wdt.1	+	0	747	c.747C>T	c.(745-747)ttC>ttT	p.F249F		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TCACCATTTTCTATTCAGCCA	0.443000														80			19		0	0	0.007413	0	0
CLVS2	134829	broad.mit.edu	37	6	123377155	123377155	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:123377155C>T	uc003pzi.1	+	4	1749	c.880C>T	c.(880-882)Cca>Tca	p.P294S		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	294					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.P294R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GGAACTCTCCCCAAAGTCCAT	0.502000														20			4		0	0	0.009096	0	0
PAPPA2	60676	broad.mit.edu	37	1	176679284	176679284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:176679284C>T	uc001gkz.3	+	10	4787	c.3623C>T	c.(3622-3624)tCc>tTc	p.S1208F	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1208					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGTCCTGTTTCCTTGGTAACT	0.463000														85			15		0	0	0.003163	0	0
CRLF3	51379	broad.mit.edu	37	17	29120537	29120537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:29120537C>T	uc002hfr.4	-	4	866	c.757G>A	c.(757-759)Gga>Aga	p.G253R	CRLF3_uc010wbr.2_Missense_Mutation_p.G137R	NM_015986	NP_057070	Q8IUI8	CRLF3_HUMAN	Homo sapiens cytokine receptor-like factor 3 (CRLF3), mRNA.	253	Fibronectin type-III.				negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|positive regulation of JAK-STAT cascade|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter	cytoplasm				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				CGGCCATCTCCTCGGGCGCAG	0.473000														37			13		0	0	0.002450	0	0
OR6C2	341416	broad.mit.edu	37	12	55846693	55846693	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:55846693G>A	uc001sgz.1	+	0	696	c.696G>A	c.(694-696)agG>agA	p.R232R		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TTCAGCAAAGGAAAAAGGCCT	0.413000														75			10		0	0	0.010729	0	0
AGRN	375790	broad.mit.edu	37	1	983023	983023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:983023C>T	uc001ack.2	+	20	3637	c.3587C>T	c.(3586-3588)cCc>cTc	p.P1196L		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	1196	SEA.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GACCTGGGGCCCGGCAAATCC	0.622000														53			13		0	0	0.004990	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763163	92763163	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:92763163C>T	uc003umh.1	-	4	3338	c.2122G>A	c.(2122-2124)Gat>Aat	p.D708N	SAMD9L_uc003umj.1_Missense_Mutation_p.D708N|SAMD9L_uc003umi.1_Missense_Mutation_p.D708N|SAMD9L_uc010lfb.1_Missense_Mutation_p.D708N|SAMD9L_uc003umk.1_Missense_Mutation_p.D708N|SAMD9L_uc010lfc.1_Missense_Mutation_p.D708N|SAMD9L_uc010lfd.1_Missense_Mutation_p.D708N|SAMD9L_uc022ahh.1_Missense_Mutation_p.D708N	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	708										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)			TTAACAAAATCTGAAGAATAG	0.323000														36			14		0	0	0.001855	0	0
MGST3	4259	broad.mit.edu	37	1	165623542	165623542	+	Silent	SNP	C	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:165623542C>A	uc001gdf.3	+	4	704	c.276C>A	c.(274-276)gcC>gcA	p.A92A		NM_004528	NP_004519	O14880	MGST3_HUMAN	Homo sapiens microsomal glutathione S-transferase 3 (MGST3), mRNA.	92					leukotriene biosynthetic process|leukotriene production involved in inflammatory response|signal transduction|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glutathione peroxidase activity|glutathione transferase activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Glutathione(DB00143)	TGGGCTTGGCCTGGATTGTTG	0.368000														129			41		1.00001e-27	1.06353e-27	0.009718	1	0
GTF3C5	9328	broad.mit.edu	37	9	135927459	135927459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:135927459C>T	uc004ccj.4	+	4	1118	c.781C>T	c.(781-783)Cgt>Tgt	p.R261C	GTF3C5_uc010mzz.2_Missense_Mutation_p.R136C|GTF3C5_uc004cci.4_Missense_Mutation_p.R261C	NM_001122823	NP_001116295	Q9Y5Q8	TF3C5_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 5, 63kDa (GTF3C5), transcript variant 1, mRNA.	261						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GTTTGACATCCGTCCCATCTG	0.567000														29			7		0	0	0.004482	0	0
FAIM2	23017	broad.mit.edu	37	12	50295091	50295091	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:50295091C>T	uc001rvj.2	-	1	218	c.33G>A	c.(31-33)aaG>aaA	p.K11K	FAIM2_uc001rvi.2_5'UTR	NM_012306	NP_036438	Q9BWQ8	FAIM2_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 2 (FAIM2), mRNA.	11					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						TCCCAGGGGCCTTGTTAGCCA	0.597000														32			5		0	0	0.000602	0	0
AHCYL2	23382	broad.mit.edu	37	7	129046260	129046260	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:129046260C>T	uc011kov.2	+	9	1311	c.1248C>T	c.(1246-1248)tcC>tcT	p.S416S	AHCYL2_uc003vot.3_Silent_p.S415S|AHCYL2_uc003vov.3_Silent_p.S313S|AHCYL2_uc011kox.2_Silent_p.S313S	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	Homo sapiens adenosylhomocysteinase-like 2 (AHCYL2), transcript variant 1, mRNA.	416					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						CCATGGGCTCCATTGTGTATG	0.493000														71			21		0	0	0.002780	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455007	84455007	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:84455007G>A	uc001vlk.3	-	0	1522	c.636C>T	c.(634-636)aaC>aaT	p.N212N		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	212	LRRCT 1.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGTCCCAAGGGTTATCCTCTA	0.562000														38			5		0	0	0.001984	0	0
C21orf59	56683	broad.mit.edu	37	21	33951009	33951009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr21:33951009G>A	uc002ypw.4	-	3	609	c.493C>T	c.(493-495)Cca>Tca	p.P165S		NM_144659	NP_653260	P57076	CU059_HUMAN	Homo sapiens t-complex 10 (mouse)-like (TCP10L), mRNA.	229						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						GTCACCTTTGGAGGAGCTGAA	0.473000														75			14		0	0	0.004007	0	0
WDR17	116966	broad.mit.edu	37	4	177094490	177094490	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:177094490C>T	uc003iuj.3	+	26	3737	c.3434C>T	c.(3433-3435)aCt>aTt	p.T1145I	WDR17_uc003ium.4_Missense_Mutation_p.T1106I|WDR17_uc003iul.2_Intron|WDR17_uc003iun.3_Missense_Mutation_p.T356I	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	1145										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TATATTCGTACTGAAAAATTA	0.333000														20			5		0	0	0.001168	0	0
LTBP1	4052	broad.mit.edu	37	2	33500900	33500900	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:33500900G>A	uc021vft.1	+	17	2925	c.2902G>A	c.(2902-2904)Ggg>Agg	p.G968R	LTBP1_uc002rou.3_Missense_Mutation_p.G642R|LTBP1_uc002rov.3_Missense_Mutation_p.G589R|LTBP1_uc010ymz.2_Missense_Mutation_p.G642R|LTBP1_uc010yna.2_Missense_Mutation_p.G589R	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	968	EGF-like 6; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGACGTCTGTGGGGAGGGGCA	0.537000														98			12		0	0	0.010729	0	0
MAGI1	9223	broad.mit.edu	37	3	65365122	65365122	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:65365122A>T	uc003dmn.3	-	16	3335	c.2809T>A	c.(2809-2811)Tcg>Acg	p.S937T	MAGI1_uc003dmm.3_Missense_Mutation_p.S965T|MAGI1_uc003dmo.3_Missense_Mutation_p.S965T|MAGI1_uc003dmp.3_Missense_Mutation_p.S937T|MAGI1_uc003dmq.1_Non-coding_Transcript|MAGI1_uc010hnx.1_Missense_Mutation_p.S248T	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	965					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GTGTTCAGCGAGTTCTGGCTG	0.682000														40			10		0	0	0.006214	0	0
COL28A1	340267	broad.mit.edu	37	7	7571504	7571504	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:7571504G>A	uc003src.1	-	2	273	c.156C>T	c.(154-156)atC>atT	p.I52I	COL28A1_uc011jxe.1_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	52	VWFA 1.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		AGCTGTCCACGATGAAGACAA	0.363000														36			8		0	0	0.006214	0	0
EEF2	1938	broad.mit.edu	37	19	3982416	3982416	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:3982416G>A	uc002lze.3	-	4	702	c.619C>T	c.(619-621)Cct>Tct	p.P207S		NM_001961	NP_001952	P13639	EF2_HUMAN	Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA.	207						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGAGGACAGGATCGATCTGG	0.637000														50			4		0	0	0.009096	0	0
TRPM7	54822	broad.mit.edu	37	15	50926735	50926735	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:50926735G>A	uc001zyt.4	-	7	1133	c.851C>T	c.(850-852)cCt>cTt	p.P284L	TRPM7_uc010bew.2_Missense_Mutation_p.P284L	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	284					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TGCCACCACAGGGACACCCTG	0.403000														14			5		0	0	0.001168	0	0
PNMA5	114824	broad.mit.edu	37	X	152159825	152159825	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:152159825C>T	uc022chn.1	-	0	318	c.318G>A	c.(316-318)ctG>ctA	p.L106L	PNMA5_uc010ntx.3_Silent_p.L106L|PNMA5_uc010ntw.3_Silent_p.L106L|PNMA5_uc004fgy.4_Silent_p.L106L|PNMA5_uc022chm.1_Silent_p.L106L	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	106					apoptosis			p.L106Q(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ggaagtagttcagtctactga	0.532000														64			25		0	0	0.002780	0	0
UBN2	254048	broad.mit.edu	37	7	138968105	138968105	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:138968105C>T	uc011kqr.2	+	14	2454	c.2454C>T	c.(2452-2454)ccC>ccT	p.P818P		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	818										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TAGCTACTCCCAAAAAACTAG	0.448000														41			16		0	0	0.003163	0	0
EYA2	2139	broad.mit.edu	37	20	45702961	45702961	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:45702961C>T	uc002xsm.3	+	6	1022	c.648C>T	c.(646-648)tcC>tcT	p.S216S	EYA2_uc010ghp.3_Silent_p.S216S|EYA2_uc002xsq.3_Silent_p.S216S	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	216					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				ACCAGAGTTCCGAGTCACTTG	0.597000														73			12		0	0	0.013537	0	0
ACTG1	71	broad.mit.edu	37	17	79478095	79478095	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:79478095G>A	uc002kak.2	-	4	1100	c.842C>T	c.(841-843)tCc>tTc	p.S281F	ACTG1_uc002kag.3_Non-coding_Transcript|ACTG1_uc002kal.2_Missense_Mutation_p.S281F|ACTG1_uc021ufb.1_5'Flank	NM_001199954	NP_001186883	P63261	ACTG_HUMAN	Homo sapiens actin, gamma 1 (ACTG1), transcript variant 1, mRNA.	281					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CTTCATGATGGAGTTGAAGGT	0.562000														50			26		0	0	0.007291	0	0
SNX7	51375	broad.mit.edu	37	1	99164351	99164352	+	Missense_Mutation	DNP	GC	AA	AA			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:99164351_99164352GC>AA	uc010ouc.2	+	5	980_981	c.928_929GC>AA	c.(928-930)gcc>AAc	p.A310N	SNX7_uc001dsa.3_Missense_Mutation_p.A246N|SNX7_uc010oud.2_Missense_Mutation_p.A255N	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN	Homo sapiens sorting nexin 7 (SNX7), transcript variant 1, mRNA.	246					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		AAAGGATGTTGCCAGCTGCATT	0.416000														41			18		0	0	0.004672	0	0
C11orf63	79864	broad.mit.edu	37	11	122795661	122795661	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:122795661G>A	uc001pym.3	+	3	1218	c.921G>A	c.(919-921)atG>atA	p.M307I		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	307										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CCAAGGAAATGGAAAATGCTG	0.403000														42			16		0	0	0.008871	0	0
SCG5	6447	broad.mit.edu	37	15	32935871	32935872	+	Missense_Mutation	DNP	TT	CC	CC			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:32935871_32935872TT>CC	uc001zha.2	+	1	195_196	c.78_79TT>CC	c.(76-81)gcttac>gcCCac	p.Y27H	SCG5_uc001zgz.2_Missense_Mutation_p.Y27H	NM_001144757	NP_001138229	P05408	7B2_HUMAN	Homo sapiens secretogranin V (7B2 protein) (SCG5), transcript variant 1, mRNA.	27					intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion	extracellular region|stored secretory granule	GTP binding|enzyme inhibitor activity|unfolded protein binding			lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	6		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)		CAGCATTTGCTTACAGCCCCCG	0.535000														68			17		0	0	0.004672	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140255514	140255514	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:140255514C>T	uc003lic.2	+	0	584	c.457C>T	c.(457-459)Cct>Tct	p.P153S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.P153S	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	168	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCATTTTCCTCTAGAGGG	0.438000														38			21		0	0	0.010504	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249119076	249119076	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:249119076G>A	uc001iew.1	-	1	611	c.59C>T	c.(58-60)cCt>cTt	p.P20L	SH3BP5L_uc001iev.1_5'UTR|MIR3124_uc021pmd.1_5'Flank	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	Homo sapiens SH3-binding domain protein 5-like (SH3BP5L), mRNA.	20										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TACAACTTCAGGCCGCAGCTC	0.612000														66			25		0	0	0.005443	0	0
TRPM6	140803	broad.mit.edu	37	9	77403570	77403570	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:77403570C>T	uc004ajl.1	-	19	2865	c.2627G>A	c.(2626-2628)aGc>aAc	p.S876N	TRPM6_uc004ajk.1_Missense_Mutation_p.S871N|TRPM6_uc022bib.1_Missense_Mutation_p.S871N|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	876					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GATGTAAATGCTAACAAGCCA	0.507000														36			9		0	0	0.004482	0	0
NRP1	8829	broad.mit.edu	37	10	33515168	33515168	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:33515168G>A	uc001iwx.4	-	6	1554	c.1031C>T	c.(1030-1032)gCc>gTc	p.A344V	NRP1_uc001iwv.4_Missense_Mutation_p.A344V|NRP1_uc001iwy.4_Missense_Mutation_p.A344V|NRP1_uc009xlz.3_Missense_Mutation_p.A344V|NRP1_uc001iww.4_Missense_Mutation_p.A163V|NRP1_uc001iwz.2_Missense_Mutation_p.A344V|NRP1_uc001ixa.2_Missense_Mutation_p.A344V|NRP1_uc001ixb.2_Missense_Mutation_p.A344V|NRP1_uc001ixc.1_Missense_Mutation_p.A344V	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	344	F5/8 type C 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTTTGAAATGGCGCCCTGTGT	0.478000														19			13		0	0	0.013537	0	0
KIF4B	285643	broad.mit.edu	37	5	154393533	154393533	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:154393533G>A	uc010jih.1	+	0	274	c.114G>A	c.(112-114)gaG>gaA	p.E38E		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	38	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGCCCGGGGAGACTCAGGTGG	0.527000														35			12		0	0	0.001855	0	0
FLG	2312	broad.mit.edu	37	1	152279862	152279862	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:152279862C>A	uc001ezu.1	-	2	7536	c.7500G>T	c.(7498-7500)agG>agT	p.R2500S		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2500	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGGCATCAGACCTTCCCTGGG	0.557000									Ichthyosis					292			38		3.61848e-18	3.83994e-18	0.007835	1	0
CNKSR1	10256	broad.mit.edu	37	1	26514782	26514782	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:26514782C>T	uc001bln.4	+	16	1591	c.1533C>T	c.(1531-1533)ccC>ccT	p.P511P	CNKSR1_uc001blm.4_Silent_p.P504P|CNKSR1_uc009vsd.3_Silent_p.P246P|CNKSR1_uc009vse.3_Silent_p.P246P|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.2_5'Flank|CATSPER4_uc009vsf.3_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	511					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GCCGGGCCCCCCCACCCCGAG	0.602000														45			6		0	0	0.003080	0	0
ZNF676	163223	broad.mit.edu	37	19	22364005	22364005	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:22364005C>T	uc002nqs.1	-	2	832	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CCATTTTCTTCACATTTGTAG	0.343000														40			5		0	0	0.001168	0	0
SMC3	9126	broad.mit.edu	37	10	112361499	112361499	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:112361499C>T	uc001kze.3	+	23	2875	c.2749C>T	c.(2749-2751)Cat>Tat	p.H917Y		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	917					DNA mediated transformation|DNA repair|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TGCTATAAATCATGATACTAA	0.368000														68			7		0	0	0.006214	0	0
RTN2	6253	broad.mit.edu	37	19	45997948	45997948	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:45997948G>A	uc002pcb.3	-	2	625	c.395C>T	c.(394-396)cCa>cTa	p.P132L	RTN2_uc002pcc.3_Missense_Mutation_p.P132L|RTN2_uc002pcd.3_Non-coding_Transcript	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	132						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GCGCTCGGATGGAGGCGCGGT	0.682000														56			12		0	0	0.010729	0	0
DICER1	23405	broad.mit.edu	37	14	95573953	95573953	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:95573953G>A	uc001ydw.2	-	17	3008	c.2796C>T	c.(2794-2796)atC>atT	p.I932I	DICER1_uc010avh.1_5'Flank|DICER1_uc021sbc.1_Silent_p.I932I|DICER1_uc001ydv.2_Silent_p.I922I|DICER1_uc001ydx.2_Silent_p.I932I|DICER1_uc021sbd.1_Silent_p.I214I	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	932	PAZ.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACCTTGGAATGATAACGGCAT	0.408000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					67			8		0	0	0.003080	0	0
BCL11A	53335	broad.mit.edu	37	2	60687932	60687932	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:60687932C>T	uc002sae.1	-	3	2343	c.2115G>A	c.(2113-2115)gaG>gaA	p.E705E	BCL11A_uc002sab.3_Silent_p.E705E|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Silent_p.E374E|BCL11A_uc010ypj.2_Silent_p.E671E|BCL11A_uc002sad.1_Silent_p.E553E|BCL11A_uc002saf.1_Silent_p.E671E	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	705					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTCCGTCCAGCTCCCCGGGCG	0.652000			T	IGH@	B-CLL									140			106		0	0	0.014410	0	0
ALPK2	115701	broad.mit.edu	37	18	56204723	56204723	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr18:56204723G>A	uc002lhj.4	-	4	2910	c.2696C>T	c.(2695-2697)tCa>tTa	p.S899L	ALPK2_uc002lhk.1_Missense_Mutation_p.S230L	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	899							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGCTGTGTGTGAAATGTTCAA	0.502000														39			8		0	0	0.006214	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217792	150217792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:150217792G>A	uc003whk.3	+	1	860	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	GIMAP7_uc022apu.1_Missense_Mutation_p.E244K	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	244							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)		TAAATCAGAGGAAGAAAAGGA	0.279000														19			4		0	0	0.000602	0	0
OR51I2	390064	broad.mit.edu	37	11	5475345	5475345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:5475345G>A	uc010qzf.2	+	0	708	c.627G>A	c.(625-627)atG>atA	p.M209I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 2 (OR51I2), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G208V(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTTTGGCATGGACCTGTTTT	0.483000														108			13		0	0	0.002450	0	0
NEB	4703	broad.mit.edu	37	2	152499715	152499715	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:152499715C>T	uc021vrb.1	-	55	8138	c.8109G>A	c.(8107-8109)atG>atA	p.M2703I	NEB_uc002txu.3_Missense_Mutation_p.M2703I|NEB_uc021vrc.1_Missense_Mutation_p.M2703I|NEB_uc010fnx.3_Missense_Mutation_p.M2703I|NEB_uc021vrd.1_Missense_Mutation_p.M2703I	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2703					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTATGGAATCCATAAGGCTGG	0.373000														111			44		0	0	0.014410	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43919744	43919744	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:43919744C>T	uc010yny.2	+	3	361	c.278C>T	c.(277-279)tCg>tTg	p.S93L	PLEKHH2_uc002rte.3_Missense_Mutation_p.S93L|PLEKHH2_uc002rtf.3_Missense_Mutation_p.S93L	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	93						cytoplasm|cytoskeleton|integral to membrane	binding	p.S93L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GATCTGGAGTCGCTAATACAG	0.338000														179			28		0	0	0.012213	0	0
CFTR	1080	broad.mit.edu	37	7	117232194	117232194	+	Missense_Mutation	SNP	G	A	A	rs121908780		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:117232194G>A	uc003vjd.3	+	13	2105	c.1973G>A	c.(1972-1974)aGa>aAa	p.R658K	CFTR_uc011knq.2_Missense_Mutation_p.R64K	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	658					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GCAGAAAGAAGAAATTCAATC	0.373000									Cystic Fibrosis					32			6		0	0	0.001168	0	0
TAF1L	138474	broad.mit.edu	37	9	32632084	32632084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:32632084C>T	uc003zrg.1	-	0	3584	c.3494G>A	c.(3493-3495)aGa>aAa	p.R1165K	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1165					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GACATCATCTCTGTGATTGTT	0.498000														38			4		0	0	0.000602	0	0
FAM150A	389658	broad.mit.edu	37	8	53454998	53454998	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:53454998G>A	uc003xrd.3	-	1	403	c.198C>T	c.(196-198)ttC>ttT	p.F66F	FAM150A_uc011ldt.2_Silent_p.F66F	NM_207413	NP_997296	Q6UXT8	F150A_HUMAN	Homo sapiens family with sequence similarity 150, member A (FAM150A), mRNA.	66						extracellular region				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				AGTCTCTTGGGAATATTTCTG	0.274000														27			4		0	0	0.009096	0	0
MRVI1	10335	broad.mit.edu	37	11	10645346	10645346	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:10645346C>T	uc010rcc.1	-	9	1812	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	MRVI1_uc010rcb.1_Missense_Mutation_p.E468K|MRVI1_uc001miw.2_Missense_Mutation_p.E467K|MRVI1_uc001mix.3_Missense_Mutation_p.E161K|MRVI1_uc001miz.2_Missense_Mutation_p.E385K|MRVI1_uc010rcd.1_Missense_Mutation_p.E270K|MRVI1_uc009ygd.1_Missense_Mutation_p.E161K|MRVI1_uc010rce.1_Non-coding_Transcript	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	449					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TCAGCTGCTTCACTAAGGTCT	0.463000														31			7		0	0	0.001984	0	0
GABRG1	2565	broad.mit.edu	37	4	46099293	46099293	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:46099293G>A	uc003gxb.3	-	1	330	c.178C>T	c.(178-180)Cat>Tat	p.H60Y		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	60					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TCTCCTTCATGAATTTTTGGG	0.368000														112			25		0	0	0.004656	0	0
CES3	23491	broad.mit.edu	37	16	67006790	67006790	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:67006790C>T	uc002eqt.3	+	12	1633	c.1554C>T	c.(1552-1554)ccC>ccT	p.P518P	CES3_uc010cdz.3_Silent_p.P515P|CES3_uc010viw.2_Silent_p.P157P	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	518						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.P518P(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CTCCTTGGCCCCAATTCAACC	0.602000														57			18		0	0	0.010504	0	0
LRRC8A	56262	broad.mit.edu	37	9	131670623	131670623	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:131670623C>T	uc004bwl.4	+	2	1434	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L	LRRC8A_uc010myp.3_Silent_p.L394L|LRRC8A_uc010myq.3_Silent_p.L394L	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA.	394					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CGCCGTCTTCCTGTCGGAGGT	0.587000														52			8		0	0	0.006214	0	0
MYH7	4625	broad.mit.edu	37	14	23900816	23900816	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:23900816C>T	uc001wjx.3	-	7	816	c.710G>A	c.(709-711)cGg>cAg	p.R237Q		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	237	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTTGTCGTTCCGGACGGTCTT	0.597000														103			8		0	0	0.003080	0	0
SLC16A14	151473	broad.mit.edu	37	2	230910957	230910957	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:230910957C>T	uc002vqd.2	-	3	1344	c.885G>A	c.(883-885)aaG>aaA	p.K295K	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Silent_p.K295K|SLC16A14_uc002vqf.3_Silent_p.K295K	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	295						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CCTCGAAGCCCTTCCTGACTC	0.517000														41			8		0	0	0.006214	0	0
TRANK1	9881	broad.mit.edu	37	3	36899257	36899257	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:36899257G>T	uc003cgj.3	-	11	2072	c.1824C>A	c.(1822-1824)aaC>aaA	p.N608K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	608					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						TCCTCCTCCTGTTCTCCATCA	0.537000														100			17		9.16793e-09	9.69723e-09	0.004990	1	0
PCSK6	5046	broad.mit.edu	37	15	101983763	101983763	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:101983763G>A	uc002bxa.2	-	2	711	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	PCSK6_uc010bpd.3_Nonsense_Mutation_p.Q4*|PCSK6_uc002bwy.3_Nonsense_Mutation_p.Q133*|PCSK6_uc010bpe.3_Nonsense_Mutation_p.Q130*|PCSK6_uc002bxb.2_Nonsense_Mutation_p.Q133*|PCSK6_uc002bxc.1_Nonsense_Mutation_p.Q133*|PCSK6_uc002bxd.1_Nonsense_Mutation_p.Q133*|PCSK6_uc002bxe.3_Nonsense_Mutation_p.Q133*|PCSK6_uc002bxg.1_Nonsense_Mutation_p.Q133*	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	134					glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCTGTACCTGGGGGTCCATT	0.458000														86			15		0	0	0.004007	0	0
GHR	2690	broad.mit.edu	37	5	42718878	42718878	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:42718878C>T	uc021xxv.1	+	9	1427	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L	GHR_uc003jmt.3_Silent_p.L423L|GHR_uc003jmu.3_Silent_p.L423L|GHR_uc003jmv.2_Silent_p.L423L|GHR_uc021xxw.1_Silent_p.L423L|GHR_uc021xxx.1_Silent_p.L423L|GHR_uc021xxy.1_Silent_p.L423L|GHR_uc021xxz.1_Silent_p.L423L|GHR_uc021xya.1_Silent_p.L423L|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Silent_p.L236L|GHR_uc021xyd.1_Silent_p.L401L	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	423					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAGCAGATCTCTTATGCCTTG	0.453000														31			13		0	0	0.013537	0	0
NFKB2	4791	broad.mit.edu	37	10	104156228	104156228	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:104156228C>T	uc001kvb.3	+	3	391	c.126C>T	c.(124-126)atC>atT	p.I42I	NFKB2_uc001kva.3_Silent_p.I42I|NFKB2_uc010qqk.1_Silent_p.I42I|NFKB2_uc001kvd.3_Silent_p.I42I|NFKB2_uc009xxc.3_Silent_p.I42I	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) (NFKB2), transcript variant 1, mRNA.	42	RHD.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.I42I(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		ACCTGGTGATCGTGGAACAGC	0.607000			T	IGH@	B-NHL									32			5		0	0	0.000602	0	0
RENBP	5973	broad.mit.edu	37	X	153200957	153200958	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:153200957_153200958CC>TT	uc004fjo.2	-	9	1319_1320	c.1149_1150GG>AA	c.(1147-1152)aaggga>aaAAga	p.G384R	NAA10_uc004fjm.1_5'Flank|NAA10_uc004fjn.1_5'Flank|NAA10_uc011mzg.1_5'Flank	NM_002910	NP_002901	P51606	RENBP_HUMAN	Homo sapiens renin binding protein (RENBP), mRNA.	384					mannose metabolic process|regulation of blood pressure		N-acylglucosamine 2-epimerase activity|endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	AAAGGACCTCCCTTGATGGAGA	0.644000														32			13		0	0	0.004672	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393464	145393464	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:145393464C>T	uc003lnt.3	+	4	1137	c.899C>T	c.(898-900)tCc>tTc	p.S300F	SH3RF2_uc011dbl.1_Missense_Mutation_p.S300F	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	300							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCAGTTTTCCATCACAACA	0.577000														91			25		0	0	0.003954	0	0
COLQ	8292	broad.mit.edu	37	3	15529735	15529735	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:15529735G>A	uc003bzx.3	-	2	425	c.299C>T	c.(298-300)tCc>tTc	p.S100F	HACL1_uc011avr.1_Non-coding_Transcript|COLQ_uc003bzv.3_Missense_Mutation_p.S90F|COLQ_uc010heo.3_Intron|COLQ_uc003cad.1_Non-coding_Transcript|COLQ_uc003cae.1_5'UTR	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant I, mRNA.	100	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						AGGCCCAGGGGAGCCTAGCGA	0.582000														59			17		0	0	0.007413	0	0
DNAH7	56171	broad.mit.edu	37	2	196759829	196759829	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:196759829G>A	uc002utj.4	-	29	4868	c.4767C>T	c.(4765-4767)tcC>tcT	p.S1589S		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1589	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAATCTTCTCGGAAAAGAATG	0.373000														29			5		0	0	0.001168	0	0
MAP3K12	7786	broad.mit.edu	37	12	53880233	53880233	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:53880233T>A	uc001sdn.2	-	2	890	c.619A>T	c.(619-621)Atc>Ttc	p.I207F	MAP3K12_uc001sdm.2_Missense_Mutation_p.I174F	NM_001193511	NP_001180440	Q12852	M3K12_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 12 (MAP3K12), transcript variant 1, mRNA.	174	Protein kinase.				JNK cascade|histone phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding	p.P207L(1)		NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TTGAAAGTGATGATGTTGGGG	0.587000														46			6		0	0	0.001168	0	0
PAK7	57144	broad.mit.edu	37	20	9520187	9520187	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:9520187G>A	uc002wnl.2	-	10	2627	c.2082C>T	c.(2080-2082)ctC>ctT	p.L694L	PAK7_uc002wnk.2_Silent_p.L694L|PAK7_uc002wnj.2_Silent_p.L694L|PAK7_uc010gby.1_Silent_p.L607L	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	694	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GATGTCCGAGGAGTTCCTGGG	0.517000														147			30		0	0	0.010818	0	0
TNFSF13B	10673	broad.mit.edu	37	13	108922354	108922354	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:108922354C>T	uc001vqr.3	+	0	378	c.111C>T	c.(109-111)ccC>ccT	p.P37P	TNFSF13B_uc010agj.3_Silent_p.P37P	NM_006573	NP_006564	Q9Y275	TN13B_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 13b (TNFSF13B), transcript variant 1, mRNA.	37					cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			AGGAAAGCCCCTCTGTCCGAT	0.537000														113			17		0	0	0.007413	0	0
ROBO2	6092	broad.mit.edu	37	3	77656953	77656953	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:77656953G>A	uc011bgk.2	+	21	3796	c.3153G>A	c.(3151-3153)ggG>ggA	p.G1051G	ROBO2_uc021xat.1_Silent_p.G1063G|ROBO2_uc003dpy.4_Silent_p.G1047G|ROBO2_uc003dpz.3_Silent_p.G1051G|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Silent_p.G174G	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1047					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TTTCAGGTGGGAAAGGTGGAA	0.393000														33			4		0	0	0.000602	0	0
KIAA1755	85449	broad.mit.edu	37	20	36859609	36859609	+	Silent	SNP	G	A	A	rs138852455		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:36859609G>A	uc002xhy.1	-	4	2138	c.1866C>T	c.(1864-1866)atC>atT	p.I622I	KIAA1755_uc002xhz.1_Silent_p.I622I	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	622										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTTACCTGGGGATGGTACACA	0.612000														18			10		0	0	0.006214	0	0
MAP2K1	5604	broad.mit.edu	37	15	66729162	66729163	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:66729162_66729163CC>TT	uc010bhq.3	+	2	845_846	c.370_371CC>TT	c.(370-372)ccg>TTg	p.P124L	MAP2K1_uc010ujp.2_Missense_Mutation_p.P102L	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 1 (MAP2K1), mRNA.	124	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P124S(12)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						GTGCAACTCTCCGTACATCGTG	0.510000														37			15		0	0	0.004672	0	0
MYH7	4625	broad.mit.edu	37	14	23890224	23890224	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:23890224C>T	uc001wjx.3	-	25	3385	c.3279G>A	c.(3277-3279)agG>agA	p.R1093R	MIR208B_uc021rqy.1_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1093					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATCCTCAATCCTTGCGTTGA	0.587000														62			8		0	0	0.004482	0	0
PTCHD2	57540	broad.mit.edu	37	1	11596628	11596628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:11596628C>T	uc001ash.4	+	20	4202	c.4064C>T	c.(4063-4065)tCc>tTc	p.S1355F		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	1355					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ACCCGGACTTCCTTCCTCAAG	0.667000														14			8		0	0	0.004482	0	0
OR5C1	392391	broad.mit.edu	37	9	125551886	125551886	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:125551886C>T	uc011lzd.2	+	0	675	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily C, member 1 (OR5C1), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						ATGGCTTCATCGCTGGGGCTG	0.592000														35			6		0	0	0.004482	0	0
HABP2	3026	broad.mit.edu	37	10	115335736	115335736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:115335736C>T	uc001lai.4	+	3	407	c.304C>T	c.(304-306)Cct>Tct	p.P102S	HABP2_uc021pyr.1_Missense_Mutation_p.P76S|HABP2_uc010qrz.1_Non-coding_Transcript|HABP2_uc010qry.1_Silent_p.L90L	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	102	EGF-like 1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		CTGCCTGGCTCCTTTCTCTGG	0.527000														51			12		0	0	0.010729	0	0
CELA3B	23436	broad.mit.edu	37	1	22303555	22303555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:22303555C>T	uc001bfk.3	+	0	138	c.23C>T	c.(22-24)tCc>tTc	p.S8F	CELA3B_uc009vqf.3_Missense_Mutation_p.S7F	NM_007352	NP_031378	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3B (CELA3B), mRNA.	8					cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						CTGCTCAGTTCCCTCCTCCTT	0.527000														176			60		0	0	0.014410	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870136	51870136	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:51870136G>A	uc002xwo.3	+	1	1026	c.139G>A	c.(139-141)Gac>Aac	p.D47N	TSHZ2_uc021wex.1_Missense_Mutation_p.D44N	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	47					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)			GGGTGGCAATGACACAGGGAC	0.537000														34			5		0	0	0.000602	0	0
ITGA4	3676	broad.mit.edu	37	2	182396419	182396419	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:182396419C>T	uc002unu.3	+	24	3463	c.2700C>T	c.(2698-2700)ttC>ttT	p.F900F	ITGA4_uc002unv.3_Silent_p.F145F	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	900					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.F900L(4)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GTTTAAATTTCTTGTGTAATT	0.308000														67			16		0	0	0.004007	0	0
ZNF831	128611	broad.mit.edu	37	20	57769657	57769658	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:57769657_57769658CC>TT	uc002yan.3	+	0	3583_3584	c.3583_3584CC>TT	c.(3583-3585)ccc>TTc	p.P1195F		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1195						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)					TGTCCCTCTGCCCGCGGAGCAG	0.634000														27			5		0	0	0.004672	0	0
MUC17	140453	broad.mit.edu	37	7	100686258	100686258	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:100686258C>T	uc003uxp.1	+	2	11614	c.11561C>T	c.(11560-11562)tCa>tTa	p.S3854L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3854						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAAGCCGGTTCATTCTCCATA	0.468000														58			14		0	0	0.001855	0	0
ABCA7	10347	broad.mit.edu	37	19	1046387	1046387	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:1046387C>T	uc002lqw.4	+	12	1835	c.1604C>T	c.(1603-1605)cCg>cTg	p.P535L	ABCA7_uc010dsb.1_Missense_Mutation_p.P397L	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	535					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGCCCTATCCGTGCTATGTG	0.697000														160			26		0	0	0.006320	0	0
DENND4A	10260	broad.mit.edu	37	15	66044926	66044926	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:66044926C>T	uc002api.3	-	3	737	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	DENND4A_uc002aph.3_Missense_Mutation_p.E118K|DENND4A_uc002apj.3_Missense_Mutation_p.E118K|DENND4A_uc010ujj.1_Missense_Mutation_p.E118K	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	118	MABP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TGAATAATTTCACAACCCTGT	0.323000														6			3		0	0	0.009096	0	0
DYSF	8291	broad.mit.edu	37	2	71894600	71894600	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:71894600G>A	uc010fen.3	+	47	5553	c.5412G>A	c.(5410-5412)gtG>gtA	p.V1804V	DYSF_uc010fei.3_Silent_p.V1782V|DYSF_uc010feh.3_Silent_p.V1772V|DYSF_uc002sig.4_Silent_p.V1751V|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.V1796V|DYSF_uc010fee.3_Silent_p.V1786V|DYSF_uc010fef.3_Silent_p.V1803V|DYSF_uc002sie.3_Silent_p.V1765V|DYSF_uc010feo.3_Silent_p.V1797V|DYSF_uc010fej.3_Silent_p.V1773V|DYSF_uc010fel.3_Silent_p.V1752V|DYSF_uc010fem.3_Silent_p.V1787V|DYSF_uc002sif.3_Silent_p.V1766V|DYSF_uc010fek.3_Silent_p.V1783V|DYSF_uc010yqy.2_Silent_p.V646V|DYSF_uc010yqz.2_Silent_p.V526V	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1765						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CGGAGCACGTGGAGTCACGGC	0.652000														38			28		0	0	0.006320	0	0
GK2	2712	broad.mit.edu	37	4	80327831	80327831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:80327831C>T	uc003hlu.3	-	0	1542	c.1524G>A	c.(1522-1524)atG>atA	p.M508I		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	508					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	p.V507I(2)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CCATTGACTTCATTACGGCTT	0.448000														43			15		0	0	0.004007	0	0
PCLO	27445	broad.mit.edu	37	7	82585784	82585784	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:82585784C>T	uc003uhx.2	-	4	4774	c.4485G>A	c.(4483-4485)gaG>gaA	p.E1495E	PCLO_uc003uhv.2_Silent_p.E1495E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1426					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						ACTCAGACTTCTCTTTATGGT	0.368000														40			7		0	0	0.001984	0	0
MATN2	4147	broad.mit.edu	37	8	98943551	98943551	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:98943551G>A	uc003yic.3	+	2	744	c.513G>A	c.(511-513)ggG>ggA	p.G171G	MATN2_uc003yib.1_Silent_p.G171G|MATN2_uc010mbh.1_Silent_p.G171G|MATN2_uc003yid.3_Silent_p.G171G|MATN2_uc003yie.1_Silent_p.G171G|MATN2_uc010mbi.1_Silent_p.G45G	NM_002380	NP_002371	O00339	MATN2_HUMAN	Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA.	171	VWFA 1.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGACAGATGGGAGACCTCAGG	0.582000														27			5		0	0	0.001984	0	0
PLCB4	5332	broad.mit.edu	37	20	9360769	9360769	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:9360769C>T	uc021wam.1	+	9	828	c.813C>T	c.(811-813)atC>atT	p.I271I	PLCB4_uc010gbw.1_Silent_p.I271I|PLCB4_uc010gbx.3_Silent_p.I271I|PLCB4_uc021wal.1_Silent_p.I271I|PLCB4_uc002wnh.3_Silent_p.I118I	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	271					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						CAATGCAGATCATTGAGATGT	0.299000														26			6		0	0	0.001984	0	0
PLXNA4	91584	broad.mit.edu	37	7	131825483	131825483	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:131825483G>A	uc003vra.4	-	29	5542	c.5313C>T	c.(5311-5313)ctC>ctT	p.L1771L	PLXNA4_uc003vqz.4_Silent_p.L56L	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1771						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCACCACAGAGAGGCAGGCGT	0.557000														93			10		0	0	0.006214	0	0
GPR112	139378	broad.mit.edu	37	X	135469965	135469965	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:135469965G>A	uc004ezu.1	+	15	8134	c.7843G>A	c.(7843-7845)Gag>Aag	p.E2615K	GPR112_uc010nsb.1_Missense_Mutation_p.E2410K	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2615					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCACTGACGGAGAGAATTCC	0.388000														30			19		0	0	0.008871	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857172	9857172	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:9857172G>A	uc010uym.2	-	13	4539	c.4229C>T	c.(4228-4230)tCg>tTg	p.S1410L	GRIN2A_uc002czo.4_Missense_Mutation_p.S1410L|GRIN2A_uc010uyn.2_3'UTR|GRIN2A_uc002czr.4_3'UTR	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1410					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGAACAGTACGATGCCGTTGA	0.498000														43			5		0	0	0.000602	0	0
MTMR8	55613	broad.mit.edu	37	X	63557176	63557176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:63557176G>A	uc004dvs.3	-	8	1163	c.1073C>T	c.(1072-1074)cCa>cTa	p.P358L	MTMR8_uc011mou.2_Missense_Mutation_p.P358L	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	358	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CCTATAAAATGGATCTAGGAG	0.423000														10			5		0	0	0.001168	0	0
LRFN2	57497	broad.mit.edu	37	6	40359880	40359880	+	Silent	SNP	G	A	A	rs144850104	byFrequency	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:40359880G>A	uc003oph.1	-	2	2637	c.2172C>T	c.(2170-2172)ttC>ttT	p.F724F		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	724						cell junction|integral to membrane|postsynaptic membrane		p.F724F(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCCCATGTCGAAGGAGTGGC	0.692000														11			8		0	0	0.003080	0	0
USP17L2	377630	broad.mit.edu	37	8	11996013	11996013	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:11996013C>T	uc003wvc.1	-	0	257	c.257G>A	c.(256-258)gGa>gAa	p.G86E	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	86					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GCAGGTATTTCCCATATTCTG	0.567000														67			5		0	0	0.001168	0	0
PDE4A	5141	broad.mit.edu	37	19	10568687	10568687	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:10568687G>A	uc002moj.2	+	7	1118	c.1010G>A	c.(1009-1011)gGg>gAg	p.G337E	PDE4A_uc021uow.1_Missense_Mutation_p.G315E|PDE4A_uc002mok.2_Missense_Mutation_p.G311E|PDE4A_uc002mol.2_Missense_Mutation_p.G276E|PDE4A_uc002mom.2_Missense_Mutation_p.G98E|PDE4A_uc002moo.2_5'Flank	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	337	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CAAATCACAGGGTTGAAAAAG	0.547000														74			15		0	0	0.004990	0	0
HTRA1	5654	broad.mit.edu	37	10	124248996	124248996	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:124248996G>A	uc001lgj.2	+	2	759	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA.	211	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				TATTGTGTCGGAAGATGGACT	0.493000														74			9		0	0	0.008291	0	0
TPR	7175	broad.mit.edu	37	1	186304568	186304568	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:186304568G>A	uc001grv.3	-	33	5110	c.4813C>T	c.(4813-4815)Caa>Taa	p.Q1605*	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	1605					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CCTTCATATTGGGACTTTAGC	0.423000			T	NTRK1	papillary thyroid									78			16		0	0	0.006122	0	0
PMFBP1	83449	broad.mit.edu	37	16	72164148	72164148	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:72164148C>T	uc002fcc.4	-	11	1933	c.1761G>A	c.(1759-1761)atG>atA	p.M587I	PMFBP1_uc002fcd.3_Missense_Mutation_p.M582I|PMFBP1_uc002fce.3_Intron|PMFBP1_uc002fcf.3_Missense_Mutation_p.M437I|PMFBP1_uc010cgo.1_5'Flank	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	587										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)				CATTCATTTTCATATCCTGCT	0.463000														66			13		0	0	0.013537	0	0
ZZEF1	23140	broad.mit.edu	37	17	3922983	3922983	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:3922983G>A	uc002fxe.3	-	45	7549	c.7485C>T	c.(7483-7485)ttC>ttT	p.F2495F	ZZEF1_uc002fxg.1_5'Flank	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	2495							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CCTCCAGGAAGAAATAATCGG	0.562000														57			22		0	0	0.014323	0	0
PEG3	5178	broad.mit.edu	37	19	57333105	57333105	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:57333105G>A	uc002qnu.2	-	3	934	c.583C>T	c.(583-585)Ctt>Ttt	p.L195F	PEG3_uc010ygr.1_5'UTR|PEG3_uc010ygq.1_5'UTR|PEG3_uc002qnr.2_Missense_Mutation_p.L70F|PEG3_uc010etp.2_Missense_Mutation_p.L70F|PEG3_uc010ygs.1_Missense_Mutation_p.L70F|PEG3_uc002qnq.2_Missense_Mutation_p.L70F|PEG3_uc002qnt.2_Missense_Mutation_p.L196F|PEG3_uc002qnv.2_Missense_Mutation_p.L195F|PEG3_uc002qnw.2_Missense_Mutation_p.L70F|PEG3_uc002qnx.2_Missense_Mutation_p.L69F|PEG3_uc010etr.2_Missense_Mutation_p.L195F	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	195					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGAAGGGAAAGATCCCGCGGA	0.537000														93			17		0	0	0.004990	0	0
DNMT1	1786	broad.mit.edu	37	19	10249161	10249161	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:10249161G>A	uc002mng.3	-	33	4201	c.4021C>T	c.(4021-4023)Ctg>Ttg	p.L1341L	DNMT1_uc002mnf.3_Silent_p.L265L|DNMT1_uc010xlc.2_Silent_p.L1357L|DNMT1_uc002mnh.3_Silent_p.L1236L|DNMT1_uc010xld.2_Silent_p.L1341L	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	1341	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	ACCACGCTCAGCTGGCAGGCC	0.637000														56			10		0	0	0.006214	0	0
GCN1L1	10985	broad.mit.edu	37	12	120575551	120575551	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:120575551T>A	uc001txo.3	-	48	6474	c.6461A>T	c.(6460-6462)gAg>gTg	p.E2154V		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	2154					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGCAGATACTCGATGATGAT	0.567000														22			4		0	0	0.009096	0	0
COL4A4	1286	broad.mit.edu	37	2	227945193	227945193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:227945193C>T	uc021vxr.1	-	22	1870	c.1769G>A	c.(1768-1770)gGa>gAa	p.G590E	COL4A4_uc021vxs.1_Missense_Mutation_p.G590E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	590	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCAGCATGTCCATCCCGACC	0.448000														81			20		0	0	0.003330	0	0
MALAT1	378938	broad.mit.edu	37	11	65266481	65266481	+	RNA	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:65266481C>T	uc010roh.2	+	0		c.1249C>T								Homo sapiens metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) (MALAT1), non-coding RNA.																		GAGTTGTTCTCCGTCTATAAA	0.537000														73			19		0	0	0.014323	0	0
LPO	4025	broad.mit.edu	37	17	56344874	56344874	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:56344874G>A	uc002ivt.3	+	11	2174	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	LPO_uc010wns.2_Missense_Mutation_p.E561K|LPO_uc010dcp.3_Missense_Mutation_p.E537K|LPO_uc010dcq.3_Missense_Mutation_p.E291K|LPO_uc010dcr.3_Missense_Mutation_p.E183K	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	620					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GCCGCTGGTGGAAAGGGGTCG	0.602000														33			5		0	0	0.000602	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58287308	58287308	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:58287308C>T	uc002aex.3	-	4	796	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	ALDH1A2_uc010ugv.2_Missense_Mutation_p.E154K|ALDH1A2_uc002aey.3_Missense_Mutation_p.E175K|ALDH1A2_uc010ugw.2_Missense_Mutation_p.E146K|ALDH1A2_uc002aew.3_Missense_Mutation_p.E79K	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	175					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CCAATGGGTTCATGTCTTGTA	0.383000														80			23		0	0	0.006320	0	0
LRTM2	654429	broad.mit.edu	37	12	1943561	1943561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:1943561G>A	uc001qjt.2	+	4	1593	c.787G>A	c.(787-789)Gat>Aat	p.D263N	CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.D263N|LRTM2_uc010sdx.1_Missense_Mutation_p.D263N|LRTM2_uc001qjv.2_Missense_Mutation_p.D25N	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.	263						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			AGCTGGGCTGGATATTCCTGG	0.637000														22			4		0	0	0.009096	0	0
ANKRD2	26287	broad.mit.edu	37	10	99343350	99343350	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:99343350G>A	uc001knw.3	+	8	1160	c.951G>A	c.(949-951)acG>acA	p.T317T	PI4K2A_uc001knx.2_5'Flank|PI4K2A_uc001kny.3_5'Flank|PI4K2A_uc001knz.3_5'Flank|PI4K2A_uc010qoy.1_5'Flank|ANKRD2_uc009xvu.3_Silent_p.T284T	NM_020349	NP_065082	Q9GZV1	ANKR2_HUMAN	Homo sapiens ankyrin repeat domain 2 (stretch responsive muscle) (ANKRD2), transcript variant 1, mRNA.	317					muscle contraction|muscle organ development		structural constituent of muscle			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		AGACCCCGACGGACCTGGTGC	0.627000														8			3		0	0	0.009096	0	0
MGAM	8972	broad.mit.edu	37	7	141708471	141708471	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:141708471G>A	uc003vwy.3	+	2	347	c.293G>A	c.(292-294)cGa>cAa	p.R98Q		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	98	P-type 1.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.R98Q(4)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAATTGGAACGAATTAATTGC	0.403000														50			4		0	0	0.009096	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102469317	102469317	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:102469317C>T	uc003kod.4	+	2	794	c.275C>T	c.(274-276)cCt>cTt	p.P92L	PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Missense_Mutation_p.P92L|PPIP5K2_uc010jbo.2_Intron	NM_015216	NP_056031	O43314	VIP2_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA.	92					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAAAACTGGCCTTTATGTGAT	0.333000														32			21		0	0	0.003954	0	0
ADARB2	105	broad.mit.edu	37	10	1313244	1313244	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:1313244G>A	uc009xhq.3	-	3	1424	c.1098C>T	c.(1096-1098)tcC>tcT	p.S366S		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	366					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	p.S366S(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TGACCAGCTGGGATATGGAGT	0.602000														13			11		0	0	0.008291	0	0
VANGL1	81839	broad.mit.edu	37	1	116228079	116228079	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:116228079G>A	uc001efv.1	+	6	1516	c.1245G>A	c.(1243-1245)caG>caA	p.Q415Q	VANGL1_uc009wgy.1_Silent_p.Q413Q|VANGL1_uc021ose.1_Silent_p.Q415Q	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN	Homo sapiens vang-like 1 (van gogh, Drosophila) (VANGL1), transcript variant 1, mRNA.	415					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CCCGGCAGCAGAACTACCACA	0.652000														35			5		0	0	0.001168	0	0
ALMS1	7840	broad.mit.edu	37	2	73680578	73680578	+	Silent	SNP	C	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:73680578C>A	uc002sje.1	+	7	7032	c.6921C>A	c.(6919-6921)tcC>tcA	p.S2307S	ALMS1_uc002sjf.1_Silent_p.S2265S|ALMS1_uc002sjg.3_Silent_p.S1695S|ALMS1_uc002sjh.1_Silent_p.S1695S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2307					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AACCCTCTTCCACGGGTGTAT	0.433000														36			21		2.37509e-13	2.5177e-13	0.010504	1	0
FLNB	2317	broad.mit.edu	37	3	58154354	58154354	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:58154354C>T	uc003djj.2	+	43	7551	c.7386C>T	c.(7384-7386)atC>atT	p.I2462I	FLNB_uc010hne.2_Silent_p.I2493I|FLNB_uc003djk.2_Silent_p.I2451I|FLNB_uc010hnf.2_Silent_p.I2438I|FLNB_uc003djl.2_Silent_p.I2282I|FLNB_uc003djm.2_Silent_p.I2269I|BC041347_uc003djn.3_Intron	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2462	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCAACCACATCGTGGGCAGTC	0.527000														47			6		0	0	0.001984	0	0
ZNF229	7772	broad.mit.edu	37	19	44934628	44934628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:44934628C>T	uc002oze.1	-	5	762	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.E104K	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GCCACCTCTTCCCAGATTTTG	0.438000														44			6		0	0	0.001168	0	0
SPRR3	6707	broad.mit.edu	37	1	152975896	152975896	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:152975896C>T	uc021ozo.1	+	0	400	c.400C>T	c.(400-402)Cct>Tct	p.P134S	SPRR3_uc001fax.4_Missense_Mutation_p.P134S|SPRR3_uc001faz.4_Missense_Mutation_p.P134S|SPRR3_uc001fay.2_Missense_Mutation_p.P126S	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA.	134	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATCAAAGTTCCTGAGCAAGG	0.552000														18			5		0	0	0.001168	0	0
KLKB1	3818	broad.mit.edu	37	4	187173248	187173248	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:187173248C>T	uc003iyy.3	+	10	1293	c.1222C>T	c.(1222-1224)Ctg>Ttg	p.L408L	KLKB1_uc011clc.2_Silent_p.L206L|KLKB1_uc011cld.2_Silent_p.L370L	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	408	Peptidase S1.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GCAGGTGAGCCTGCAGGTGAA	0.537000														62			6		0	0	0.001168	0	0
PKD1L1	168507	broad.mit.edu	37	7	47847981	47847981	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:47847981G>A	uc003tny.2	-	51	7725	c.7691C>T	c.(7690-7692)tCc>tTc	p.S2564F	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2564					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCCAACCACGGAGAGCTGGAA	0.527000														30			6		0	0	0.001984	0	0
PARK2	5071	broad.mit.edu	37	6	161807882	161807882	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:161807882C>T	uc021zhu.1	-	10	1343	c.1252G>A	c.(1252-1254)Gcg>Acg	p.A418T	PARK2_uc003qtv.4_Non-coding_Transcript|PARK2_uc003qtw.4_Missense_Mutation_p.A180T|PARK2_uc010kkd.3_Missense_Mutation_p.A180T|PARK2_uc003qtx.4_Missense_Mutation_p.A371T|PARK2_uc021zhs.1_Missense_Mutation_p.A293T|PARK2_uc021zht.1_Non-coding_Transcript|PARK2_uc003qty.4_Missense_Mutation_p.A343T|PARK2_uc003qtz.4_Missense_Mutation_p.A222T|PARK2_uc021zhv.1_Missense_Mutation_p.A292T|PARK2_uc021zhw.1_Missense_Mutation_p.A180T|PARK2_uc021zhx.1_Non-coding_Transcript|PARK2_uc021zhy.1_Missense_Mutation_p.A321T|PARK2_uc011egf.2_Missense_Mutation_p.A45T	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	371					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm	PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TCATGGTACGCTTCTTTACAT	0.458000														47			18		0	0	0.008871	0	0
ARL9	132946	broad.mit.edu	37	4	57389936	57389936	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:57389936A>G	uc003hby.1	+	3	714	c.266A>G	c.(265-267)aAg>aGg	p.K89R		NM_206919	NP_996802	Q6T311	ARL9_HUMAN	Homo sapiens ADP-ribosylation factor-like 9 (ARL9), mRNA.	153							GTP binding			lung(2)	2	Glioma(25;0.08)|all_neural(26;0.101)					AATGACAGGAAGATGTTCTTG	0.448000														31			8		0	0	0.004482	0	0
CCDC67	159989	broad.mit.edu	37	11	93141502	93141502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:93141502G>A	uc001pdq.3	+	11	1532	c.1432G>A	c.(1432-1434)Gga>Aga	p.G478R	CCDC67_uc001pdo.1_Missense_Mutation_p.G478R	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	478										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TCATGTCAATGGAAAATCAAC	0.373000														3			3		0	0	0.004672	0	0
PAPPA	5069	broad.mit.edu	37	9	118950283	118950283	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:118950283G>A	uc004bjn.3	+	1	1647	c.1266G>A	c.(1264-1266)gaG>gaA	p.E422E	PAPPA_uc011lxp.1_Silent_p.E215E|PAPPA_uc011lxq.2_Silent_p.E215E	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	422	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TTGGGGATGAGAACTGTGACC	0.632000														32			7		0	0	0.001984	0	0
LRRC7	57554	broad.mit.edu	37	1	70504702	70504702	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:70504702C>T	uc001dep.3	+	18	3111	c.3081C>T	c.(3079-3081)gtC>gtT	p.V1027V	LRRC7_uc009wbg.3_Silent_p.V311V|LRRC7_uc001deq.3_Silent_p.V268V	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1027						centrosome|focal adhesion|nucleolus	protein binding	p.V1027F(2)|p.V1027fs*5(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CAAAAAAAGTCTATCAGTTTG	0.458000														21			5		0	0	0.000602	0	0
GJA10	84694	broad.mit.edu	37	6	90604872	90604872	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:90604872G>A	uc011eaa.2	+	0	685	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	229					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CAATATACTGGAAATATTTCA	0.403000														50			16		0	0	0.004007	0	0
HERC4	26091	broad.mit.edu	37	10	69751987	69751987	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:69751987G>A	uc001jng.4	-	10	1551	c.1240C>T	c.(1240-1242)Cct>Tct	p.P414S	HERC4_uc009xpq.3_5'UTR|HERC4_uc001jnf.4_Non-coding_Transcript|HERC4_uc001jnh.4_Missense_Mutation_p.P414S|HERC4_uc009xpr.3_Missense_Mutation_p.P414S|HERC4_uc001jni.4_Missense_Mutation_p.P158S|HERC4_uc021prr.1_5'Flank	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	Homo sapiens hect domain and RLD 4 (HERC4), transcript variant 1, mRNA.	414					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						CTTCCAGAAGGATAGCTCAGC	0.483000														34			11		0	0	0.013537	0	0
OR4P4	81300	broad.mit.edu	37	11	55405836	55405836	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:55405836G>A	uc010rij.2	+	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						ACTGGACCATGGAAAAAAGCA	0.303000														74			34		0	0	0.003271	0	0
SLC14A2	8170	broad.mit.edu	37	18	43224002	43224002	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr18:43224002C>T	uc002lbe.3	+	9	2044	c.1228C>T	c.(1228-1230)Ctg>Ttg	p.L410L	SLC14A2_uc002lbb.3_Silent_p.L410L|SLC14A2_uc010dnj.3_Silent_p.L410L	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	410						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATCATCTTCCTGCTCCTGAC	0.547000														90			11		0	0	0.013537	0	0
FHIT	2272	broad.mit.edu	37	3	59737982	59737982	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:59737982T>G	uc003dkx.4	-	8	785	c.414A>C	c.(412-414)gaA>gaC	p.E138D	FHIT_uc003dky.3_Missense_Mutation_p.E138D|FHIT_uc010hnn.1_Missense_Mutation_p.E138D	NM_002012	NP_002003	P49789	FHIT_HUMAN	Homo sapiens fragile histidine triad gene (FHIT), transcript variant 1, mRNA.	138					nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding	p.A137A(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		GAGCTGCGGCTTCTGCTGCCA	0.512000			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3					35			11		0	0	0.013537	0	0
DGKK	139189	broad.mit.edu	37	X	50163469	50163469	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:50163469G>A	uc010njr.2	-	3	918	c.874C>T	c.(874-876)Ccc>Tcc	p.P292S		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	292	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTCCGGTTGGGTGCAGCCAGA	0.393000														32			30		0	0	0.012213	0	0
ANKRD5	63926	broad.mit.edu	37	20	10036195	10036195	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:10036195G>A	uc002wno.3	+	10	2611	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.E740K|ANKRD5_uc010gbz.3_Missense_Mutation_p.E551K	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	740							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						CAGGAAGAGGGAACTACGGCG	0.458000														22			7		0	0	0.001984	0	0
GCC1	79571	broad.mit.edu	37	7	127224625	127224625	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:127224625C>T	uc003vma.3	-	0	1030	c.612G>A	c.(610-612)gcG>gcA	p.A204A		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.	204						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCTCCTCCTCCGCCTTGTTAC	0.547000											OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		103			22		0	0	0.012319	0	0
QSOX1	5768	broad.mit.edu	37	1	180165587	180165588	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:180165587_180165588GG>AA	uc001gnz.3	+	11	1734_1735	c.1659_1660GG>AA	c.(1657-1662)agggat>agAAat	p.D554N	QSOX1_uc001gny.3_Missense_Mutation_p.D554N|FLJ23867_uc001god.4_5'Flank	NM_002826	NP_002817	O00391	QSOX1_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA.	554					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTGCCCGGAGGGATGTGCAGAA	0.609000														100			14		0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179455277	179455277	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:179455277C>T	uc021vsy.1	-	252	53696	c.53471G>A	c.(53470-53472)tGg>tAg	p.W17824*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.W11519*|TTN_uc021vta.1_Nonsense_Mutation_p.W11452*|TTN_uc021vtb.1_Nonsense_Mutation_p.W11327*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18751	Ig-like 104.						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)			AGGCTTTGTCCACACCAAATC	0.443000														107			30		0	0	0.012213	0	0
abParts	0	broad.mit.edu	37	14	107083466	107083466	+	RNA	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:107083466G>A	uc021ser.1	-	130		c.5704C>T								Parts of antibodies, mostly variable regions.																		TACTGATGGAGCCACCAGAGA	0.587000														40			16		0	0	0.014323	0	0
CDCP1	64866	broad.mit.edu	37	3	45134810	45134810	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:45134810G>A	uc003com.3	-	5	1721	c.1586C>T	c.(1585-1587)tCc>tTc	p.S529F		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	529	CUB.					extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		ACCCTGCCTGGAGGCCTCTTG	0.522000														40			15		0	0	0.006122	0	0
PIK3R2	5296	broad.mit.edu	37	19	18279570	18279570	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:18279570C>T	uc002nia.1	+	14	2355	c.1843C>T	c.(1843-1845)Ccg>Tcg	p.P615S	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.	615					T cell costimulation|T cell receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						GGACGATCTCCCGCACCACGA	0.667000											OREG0025359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			6		0	0	0.001984	0	0
GH2	2689	broad.mit.edu	37	17	61958244	61958244	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:61958244G>A	uc002jcl.1	-	3	406	c.344C>T	c.(343-345)cCc>cTc	p.P115L	GH2_uc002jcn.1_Missense_Mutation_p.P100L|GH2_uc002jco.1_Missense_Mutation_p.P115L|GH2_uc002jcm.1_Missense_Mutation_p.P115L	NM_022557	NP_072051	P01242	SOM2_HUMAN	Homo sapiens growth hormone 2 (GH2), transcript variant 2, mRNA.	115						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GAGCTGCACGGGCTCCAGCCA	0.632000														53			14		0	0	0.001855	0	0
UBA2	10054	broad.mit.edu	37	19	34929578	34929578	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:34929578C>T	uc002nvk.3	+	5	558	c.488C>T	c.(487-489)cCt>cTt	p.P163L	UBA2_uc010xrx.1_Missense_Mutation_p.P36L|UBA2_uc002nvl.3_Missense_Mutation_p.P67L	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 2 (UBA2), mRNA.	163					protein sumoylation	nucleus	ATP binding|SUMO activating enzyme activity|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GAGTGTCATCCTAAGCCGACC	0.403000														60			21		0	0	0.010504	0	0
RYR3	6263	broad.mit.edu	37	15	34130703	34130703	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:34130703G>A	uc001zhi.3	+	88	12592	c.12522G>A	c.(12520-12522)aaG>aaA	p.K4174K	RYR3_uc010bar.3_Silent_p.K4169K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	4174					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACGTGAAAAAGATGACTGCGA	0.502000														18			9		0	0	0.006214	0	0
RDH16	8608	broad.mit.edu	37	12	57351060	57351060	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:57351060C>T	uc001smi.4	-	0	359	c.187G>A	c.(187-189)Gag>Aag	p.E63K	RDH16_uc009zpa.3_Missense_Mutation_p.G4E	NM_003708	NP_003699	O75452	RDH16_HUMAN	Homo sapiens retinol dehydrogenase 16 (all-trans) (RDH16), mRNA.	63					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						GCTCCTTTCTCCGTCAGACAT	0.597000														31			8		0	0	0.003080	0	0
P2RY2	5029	broad.mit.edu	37	11	72946232	72946232	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:72946232G>A	uc021qna.1	+	0	1028	c.1028G>A	c.(1027-1029)aGa>aAa	p.R343K	P2RY2_uc001otk.3_Missense_Mutation_p.R343K|P2RY2_uc001otj.3_Missense_Mutation_p.R343K|P2RY2_uc001otl.3_Missense_Mutation_p.R343K	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	343					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	AGATCCGACAGAACTGACATG	0.637000														56			13		0	0	0.001855	0	0
TRPV5	56302	broad.mit.edu	37	7	142625268	142625268	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:142625268G>A	uc003wby.1	-	6	1088	c.824C>T	c.(823-825)tCc>tTc	p.S275F	TRPV5_uc003wbz.3_Missense_Mutation_p.S275F	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	275					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GTAGAGAATGGAGGTCAGGGG	0.567000														76			7		0	0	0.001984	0	0
abParts	0	broad.mit.edu	37	2	90077815	90077815	+	RNA	SNP	C	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:90077815C>G	uc010yts.2	+	22		c.2618C>G								Parts of antibodies, mostly variable regions.																		TCCTGCTACTCTGGCTCCCAG	0.512000														304			77		0	0	0.014410	0	0
ITGA1	3672	broad.mit.edu	37	5	52183650	52183650	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:52183650G>A	uc003jou.3	+	7	1191	c.777G>A	c.(775-777)aaG>aaA	p.K259K	ITGA1_uc003jov.3_Non-coding_Transcript	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	259	VWFA.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ACTTTAGAAAGGAGGCATTCA	0.408000														40			7		0	0	0.001984	0	0
N4BP2	55728	broad.mit.edu	37	4	40108641	40108641	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:40108641C>T	uc003guy.4	+	4	1833	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C	N4BP2_uc010ifq.3_Missense_Mutation_p.R419C|N4BP2_uc010ifr.3_Missense_Mutation_p.R419C	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	499						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GAACCAGAATCGTGGTAAGAA	0.313000														36			9		0	0	0.004482	0	0
CSF2RB	1439	broad.mit.edu	37	22	37322096	37322096	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr22:37322096C>T	uc003aqa.4	+	3	485	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	CSF2RB_uc003aqc.4_Missense_Mutation_p.R90C	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	90					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCCCCATCCCCGCTGCGTGCC	0.607000														41			7		0	0	0.004482	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711698	155711698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:155711698C>T	uc002tyv.1	+	2	1574	c.1379C>T	c.(1378-1380)tCt>tTt	p.S460F	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	460					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.S460Y(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AAGATGTTATCTGATCCCATG	0.468000														39			5		0	0	0.000602	0	0
GPC2	221914	broad.mit.edu	37	7	99773357	99773357	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:99773357G>A	uc003utv.3	-	2	654	c.486C>T	c.(484-486)acC>acT	p.T162T	GPC2_uc010lgr.3_Non-coding_Transcript|GPC2_uc003utw.1_Silent_p.T162T|STAG3_uc010lgs.1_5'Flank|STAG3_uc003utx.1_5'Flank|STAG3_uc011kjk.1_5'Flank	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	Homo sapiens glypican 2 (GPC2), mRNA.	162						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AATCCGCCAGGGTGTCATCCA	0.602000														45			13		0	0	0.002450	0	0
FCRL5	83416	broad.mit.edu	37	1	157514150	157514150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:157514150G>A	uc009wsm.3	-	4	904	c.746C>T	c.(745-747)gCc>gTc	p.A249V	FCRL5_uc001fqu.3_Missense_Mutation_p.A249V|FCRL5_uc010phv.1_Missense_Mutation_p.A249V|FCRL5_uc010phw.1_Missense_Mutation_p.A164V|FCRL5_uc001fqv.1_Missense_Mutation_p.A249V|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	249	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACTCCACATGGCAGTAATCTG	0.517000														173			27		0	0	0.005443	0	0
ANKRD5	63926	broad.mit.edu	37	20	10035229	10035229	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:10035229C>T	uc002wno.3	+	9	2547	c.2154C>T	c.(2152-2154)atC>atT	p.I718I	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Silent_p.I718I|ANKRD5_uc010gbz.3_Silent_p.I529I	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	718							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						AAGTGGATATCACATTTATTC	0.363000														40			4		0	0	0.001168	0	0
ZPLD1	131368	broad.mit.edu	37	3	102187820	102187820	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:102187820C>T	uc003dvt.1	+	7	922	c.822C>T	c.(820-822)gaC>gaT	p.D274D	ZPLD1_uc003dvs.1_Silent_p.D258D|ZPLD1_uc011bhg.1_Silent_p.D258D	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	258	ZP.					integral to membrane		p.D274E(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GTGACAAGGACCCTCAGACCA	0.438000														23			8		0	0	0.004482	0	0
ABCC12	94160	broad.mit.edu	37	16	48180277	48180277	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:48180277G>A	uc002efc.1	-	0	405	c.59C>T	c.(58-60)tCc>tTc	p.S20F	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Missense_Mutation_p.S20F|ABCC12_uc010vgj.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	20						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TTCTGCAAAGGATCTCCGCCG	0.587000														63			12		0	0	0.013537	0	0
HDAC9	9734	broad.mit.edu	37	7	18801793	18801793	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:18801793G>A	uc003sui.3	+	13	2098	c.2057G>A	c.(2056-2058)cGa>cAa	p.R686Q	HDAC9_uc003sue.3_Missense_Mutation_p.R683Q|HDAC9_uc011jyd.2_Missense_Mutation_p.R683Q|HDAC9_uc003suh.3_Missense_Mutation_p.R683Q|HDAC9_uc003suj.3_Missense_Mutation_p.R642Q|HDAC9_uc003sua.1_Missense_Mutation_p.R661Q	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	683	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATTCAAGGTCGAAAAGCCAGC	0.448000														21			9		0	0	0.008291	0	0
DNAH2	146754	broad.mit.edu	37	17	7721972	7721972	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:7721972C>T	uc002giu.1	+	68	10562	c.10548C>T	c.(10546-10548)gcC>gcT	p.A3516A	DNAH2_uc010cnm.1_Silent_p.A454A	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3516	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCCTGGAGGCCCAGCTGCTGG	0.592000														77			5		0	0	0.000602	0	0
FNDC7	163479	broad.mit.edu	37	1	109275946	109275946	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:109275946C>T	uc001dvx.3	+	9	1932	c.1932C>T	c.(1930-1932)atC>atT	p.I644I	FNDC7_uc010ova.2_Silent_p.I411I	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.	645	Fibronectin type-III 8.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CTAATGGCATCCGGATCTACT	0.498000														146			43		0	0	0.006999	0	0
SCRN1	9805	broad.mit.edu	37	7	29983621	29983621	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:29983621C>T	uc011kaa.2	-	3	625	c.576G>A	c.(574-576)ggG>ggA	p.G192G	SCRN1_uc011jzy.2_Silent_p.G104G|SCRN1_uc003tak.3_Silent_p.G172G|SCRN1_uc011jzz.2_Silent_p.G172G|SCRN1_uc011jzw.2_Silent_p.G104G|SCRN1_uc010kvp.3_Silent_p.G172G|SCRN1_uc011jzx.2_Intron	NM_001145514	NP_001138986	Q12765	SCRN1_HUMAN	Homo sapiens secernin 1 (SCRN1), transcript variant 3, mRNA.	172					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CCCAGTACTTCCCTATGGTCT	0.527000														90			13		0	0	0.003163	0	0
DPAGT1	1798	broad.mit.edu	37	11	118967749	118967749	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:118967749A>T	uc001pvi.3	-	8	1606	c.1186T>A	c.(1186-1188)Tcc>Acc	p.S396T	H2AFX_uc001pvg.3_5'Flank|DPAGT1_uc001pvj.3_Missense_Mutation_p.S289T|DPAGT1_uc001pvk.3_Missense_Mutation_p.S224T|DPAGT1_uc001pvm.1_3'UTR|DPAGT1_uc010rza.2_Missense_Mutation_p.S315T	NM_001382	NP_001373	Q9H3H5	GPT_HUMAN	Homo sapiens dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) (DPAGT1), mRNA.	396					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity|phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TATCGAATGGAGAAGGTGATG	0.488000														26			13		0	0	0.002450	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24908778	24908778	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:24908778G>A	uc001isb.2	-	8	2533	c.2046C>T	c.(2044-2046)tcC>tcT	p.S682S	ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Silent_p.S682S|ARHGAP21_uc010qdc.1_Silent_p.S517S|ARHGAP21_uc001isc.1_Silent_p.S672S	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	681					signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ATAAAGAGGGGGATTTCCCAG	0.483000														26			13		0	0	0.001855	0	0
SIX4	51804	broad.mit.edu	37	14	61180337	61180337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:61180337G>A	uc001xfc.3	-	2	2194	c.2134C>T	c.(2134-2136)Cgt>Tgt	p.R712C		NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	Homo sapiens SIX homeobox 4 (SIX4), mRNA.	712						nucleus		p.R712L(1)		breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		AGAACCAAACGATGTTCTTGG	0.443000														32			11		0	0	0.010729	0	0
DSCAML1	57453	broad.mit.edu	37	11	117376338	117376338	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:117376338C>T	uc001prh.1	-	8	2075	c.2073G>A	c.(2071-2073)agG>agA	p.R691R		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	631	Ig-like C2-type 8.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTCCGTCCTTCCTCCAGGTGA	0.587000														31			16		0	0	0.004007	0	0
KCNK18	338567	broad.mit.edu	37	10	118969539	118969539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:118969539C>T	uc010qsr.2	+	2	884	c.884C>T	c.(883-885)tCc>tTc	p.S295F		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	295						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		GCCTACATTTCCTGTGCAGCT	0.498000														76			22		0	0	0.003330	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895823	24895823	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:24895823G>T	uc001upj.3	+	3	980	c.919G>T	c.(919-921)Gga>Tga	p.G307*	SPATA13_uc001upe.3_Non-coding_Transcript	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA.	307	C1q.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GCAGGTGACAGGAGGAGAGAG	0.532000														54			7		0.00448238	0.00470021	0.004482	1	0
USP22	23326	broad.mit.edu	37	17	20921333	20921333	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:20921333G>A	uc002gym.4	-	4	816	c.612C>T	c.(610-612)ttC>ttT	p.F204F	USP22_uc002gyn.4_Silent_p.F192F|USP22_uc002gyl.4_Silent_p.F99F	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	Homo sapiens ubiquitin specific peptidase 22 (USP22), mRNA.	204					cell cycle|embryo development|histone H4 acetylation|histone deubiquitination|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						TGTCAGACAGGAAGAAGTCCC	0.572000														49			19		0	0	0.007413	0	0
TTN	7273	broad.mit.edu	37	2	179634647	179634647	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:179634647G>A	uc021vsy.1	-	36	8886	c.8661C>T	c.(8659-8661)acC>acT	p.T2887T	TTN_uc021vsz.1_Silent_p.T2841T|TTN_uc021vta.1_Silent_p.T2841T|TTN_uc021vtb.1_Silent_p.T2841T|TTN_uc002unb.2_Silent_p.T2887T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2887	Ig-like 16.						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)			TATTTTTCATGGTTTTTGTAA	0.373000														46			7		0	0	0.001984	0	0
SREBF2	6721	broad.mit.edu	37	22	42273334	42273334	+	Silent	SNP	C	T	T	rs146289041		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr22:42273334C>T	uc003bbi.3	+	7	1657	c.1488C>T	c.(1486-1488)ccC>ccT	p.P496P	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	496					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCTTTAACCCCCTGACTTCCC	0.597000														90			12		0	0	0.013537	0	0
NLRP2	55655	broad.mit.edu	37	19	55497556	55497556	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:55497556C>T	uc021vbq.1	+	7	2350	c.2239C>T	c.(2239-2241)Ctc>Ttc	p.L747F	NLRP2_uc010yfp.2_Missense_Mutation_p.L724F|NLRP2_uc002qij.3_Missense_Mutation_p.L747F|NLRP2_uc010esp.3_Missense_Mutation_p.L725F|NLRP2_uc010esn.3_Missense_Mutation_p.L723F|NLRP2_uc010eso.3_Missense_Mutation_p.L744F	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	747					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TCATCGGAACCTCTGCCTAGC	0.443000														23			7		0	0	0.001984	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834427	101834427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:101834427G>A	uc003knn.3	-	0	294	c.122C>T	c.(121-123)tCc>tTc	p.S41F	SLCO6A1_uc003kno.3_Missense_Mutation_p.S41F|SLCO6A1_uc003knp.3_Missense_Mutation_p.S41F|SLCO6A1_uc003knq.3_Missense_Mutation_p.S41F	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	41						integral to membrane|plasma membrane	transporter activity	p.S41F(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GGGCTTCGAGGACTTCGGGGT	0.577000														130			68		0	0	0.014410	0	0
CUX1	1523	broad.mit.edu	37	7	101918629	101918629	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:101918629C>T	uc003uyt.3	+	17	1690	c.1563_splice	c.e17+1	p.A521_splice	CUX1_uc003uyw.3_Splice_Site_p.A475_splice|CUX1_uc003uyv.3_Splice_Site_p.A505_splice|CUX1_uc003uyu.3_Splice_Site_p.A519_splice|CUX1_uc011kkn.2_Splice_Site_p.A482_splice	NM_001913	NP_001904	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 2, mRNA.	333					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAGCTTGAGGCCGTGAGTCAC	0.602000														27			10		0	0	0.006214	0	0
C9orf84	158401	broad.mit.edu	37	9	114449114	114449114	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:114449114C>T	uc004bfr.3	-	25	4406	c.4271G>A	c.(4270-4272)cGa>cAa	p.R1424Q	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Missense_Mutation_p.R1385Q|C9orf84_uc010mug.3_Missense_Mutation_p.R1335Q	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	1424										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGCTAGACGTCGTTTTTTGAA	0.373000														49			4		0	0	0.009096	0	0
FPR2	2358	broad.mit.edu	37	19	52272360	52272360	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:52272360G>A	uc002pxr.3	+	1	494	c.449G>A	c.(448-450)tGg>tAg	p.W150*	FPR2_uc002pxs.4_Nonsense_Mutation_p.W150*|FPR2_uc010epf.3_Nonsense_Mutation_p.W150*|FPR2_uc021uyp.1_Nonsense_Mutation_p.W150*	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	150					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GTCGGACCTTGGATTCTTGCT	0.493000														57			5		0	0	0.000602	0	0
DDX23	9416	broad.mit.edu	37	12	49225073	49225073	+	Silent	SNP	T	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:49225073T>A	uc001rsm.3	-	15	2182	c.2091A>T	c.(2089-2091)ggA>ggT	p.G697G		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA.	697	Helicase C-terminal.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	p.G697G(2)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CCTGGCCTTTTCCACCGTGCA	0.512000														78			18		0	0	0.008871	0	0
PLCB3	5331	broad.mit.edu	37	11	64023222	64023222	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:64023222C>T	uc009ypi.3	+	7	754	c.627C>T	c.(625-627)tcC>tcT	p.S209S	PLCB3_uc009ypg.2_Silent_p.S209S|PLCB3_uc009yph.2_Silent_p.S142S	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	209					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						ATGAGTTTTCCTTGGAAATCT	0.612000														90			15		0	0	0.006122	0	0
INSR	3643	broad.mit.edu	37	19	7143027	7143027	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:7143027G>A	uc002mgd.1	-	11	2451	c.2342C>T	c.(2341-2343)cCc>cTc	p.P781L	INSR_uc002mge.1_Missense_Mutation_p.P769L	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	781	Fibronectin type-III 2.				G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGAAGTGTTGGGGAAAGCTGC	0.597000														123			16		0	0	0.003163	0	0
ASTN1	460	broad.mit.edu	37	1	176852015	176852015	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:176852015C>T	uc001glc.3	-	19	3554	c.3342G>A	c.(3340-3342)ctG>ctA	p.L1114L	ASTN1_uc001glb.1_Silent_p.L1114L|ASTN1_uc001gld.1_Silent_p.L1114L	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1122	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGTCAGGTTCCAGGCATCGTA	0.493000														52			5		0	0	0.001168	0	0
HOXA3	3200	broad.mit.edu	37	7	27149901	27149901	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:27149901G>A	uc011jzl.2	-	1	559	c.359C>T	c.(358-360)cCg>cTg	p.P120L	HOXA3_uc003syk.3_Missense_Mutation_p.P120L	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	120	Pro-rich.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						AGAGggaggcgggggcgcggc	0.731000														16			6		0	0	0.001168	0	0
VCAN	1462	broad.mit.edu	37	5	82815862	82815862	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:82815862C>T	uc003kii.3	+	6	2093	c.1737C>T	c.(1735-1737)gtC>gtT	p.V579V	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.V579V|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	579	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTCCTGAAGTCATTACGGTGT	0.433000														43			33		0	0	0.013726	0	0
LEKR1	389170	broad.mit.edu	37	3	156745976	156745976	+	Missense_Mutation	SNP	C	T	T	rs137970825	byFrequency	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:156745976C>T	uc021xgh.1	+	11	1567	c.1453C>T	c.(1453-1455)Cgg>Tgg	p.R485W	LEKR1_uc003fba.1_Non-coding_Transcript	NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA.	77										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ATCCCATATTCGGTACACTGA	0.338000														29			4		0	0	0.000602	0	0
TMEM161A	54929	broad.mit.edu	37	19	19240968	19240968	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:19240968G>A	uc002nlg.3	-	5	622	c.592C>T	c.(592-594)Cct>Tct	p.P198S	TMEM161A_uc002nli.3_Intron	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	Homo sapiens transmembrane protein 161A (TMEM161A), mRNA.	198					cellular response to UV|cellular response to oxidative stress|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			CACTTACCAGGCTCCAGGCCC	0.617000														18			6		0	0	0.001168	0	0
NUPL2	11097	broad.mit.edu	37	7	23236306	23236306	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:23236306C>T	uc003svu.3	+	4	789	c.530C>T	c.(529-531)tCt>tTt	p.S177F	NUPL2_uc003svv.3_Non-coding_Transcript|NUPL2_uc011jyw.2_Non-coding_Transcript|NUPL2_uc011jyx.2_5'UTR	NM_007342	NP_031368	O15504	NUPL2_HUMAN	Homo sapiens nucleoporin like 2 (NUPL2), mRNA.	177					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGCTAAATTCTGTCCAACGT	0.308000														45			5		0	0	0.001168	0	0
GSG1	83445	broad.mit.edu	37	12	13243455	13243455	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:13243455C>T	uc001rbn.3	-	1	530	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	GSG1_uc001rbl.3_Missense_Mutation_p.E103K|GSG1_uc001rbj.3_Missense_Mutation_p.E103K|GSG1_uc001rbk.3_Missense_Mutation_p.E103K|GSG1_uc001rbm.3_Missense_Mutation_p.E103K|GSG1_uc001rbo.3_Missense_Mutation_p.E116K|GSG1_uc001rbp.3_Missense_Mutation_p.E116K|GSG1_uc001rbq.2_Missense_Mutation_p.E116K	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN	Homo sapiens germ cell associated 1 (GSG1), transcript variant 4, mRNA.	103						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TCCACAGTTTCCTCACAGGAT	0.552000														35			7		0	0	0.003080	0	0
TCF4	6925	broad.mit.edu	37	18	53070735	53070735	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr18:53070735C>T	uc002lga.3	-	6	685	c.625G>A	c.(625-627)Ggc>Agc	p.G209S	TCF4_uc010xdu.1_5'Flank|TCF4_uc010xdv.1_5'Flank|TCF4_uc021uki.1_Missense_Mutation_p.G37S|TCF4_uc002lfx.2_Missense_Mutation_p.G37S|TCF4_uc010xdw.1_5'UTR|TCF4_uc002lfy.2_Missense_Mutation_p.G65S|TCF4_uc010xdx.1_Missense_Mutation_p.G83S|TCF4_uc021ukj.1_Missense_Mutation_p.G107S|TCF4_uc021ukk.1_Missense_Mutation_p.G107S|TCF4_uc021ukl.1_Missense_Mutation_p.G105S|TCF4_uc002lfz.2_Missense_Mutation_p.G107S|TCF4_uc010dph.1_Missense_Mutation_p.G107S|TCF4_uc010dpi.3_Missense_Mutation_p.G107S|TCF4_uc010xdy.1_Missense_Mutation_p.G83S|TCF4_uc002lgc.4_Missense_Mutation_p.G28S|TCF4_uc021ukm.1_5'Flank	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	107					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GAGTATGAGCCCCTTTCTGTT	0.408000														107			13		0	0	0.013537	0	0
MAP7	9053	broad.mit.edu	37	6	136693712	136693712	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:136693712G>A	uc011edg.2	-	7	1142	c.893C>T	c.(892-894)tCg>tTg	p.S298L	MAP7_uc011edf.2_Missense_Mutation_p.S253L|MAP7_uc010kgu.3_Missense_Mutation_p.S290L|MAP7_uc011edh.2_Missense_Mutation_p.S253L|MAP7_uc010kgv.3_Missense_Mutation_p.S290L|MAP7_uc010kgs.3_Missense_Mutation_p.S122L|MAP7_uc011edi.2_Missense_Mutation_p.S122L|MAP7_uc010kgq.2_Missense_Mutation_p.S174L|MAP7_uc003qgz.3_Missense_Mutation_p.S268L|MAP7_uc003qha.2_Missense_Mutation_p.S231L|MAP7_uc010kgr.2_Missense_Mutation_p.S122L|MAP7_uc010kgt.2_Missense_Mutation_p.S290L|MAP7_uc003qhb.3_Non-coding_Transcript	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	268					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	p.S268L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TCGATCCATCGAATTTCTAGA	0.512000														35			13		0	0	0.013537	0	0
LIMD1	8994	broad.mit.edu	37	3	45636773	45636773	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:45636773C>T	uc003coq.3	+	0	451	c.402C>T	c.(400-402)tcC>tcT	p.S134S		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	Homo sapiens LIM domains containing 1 (LIMD1), mRNA.	134	Mediates nuclear export.				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|nucleus	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		AGCAGAGATCCAGGCCATACC	0.657000														55			8		0	0	0.004482	0	0
DRGX	644168	broad.mit.edu	37	10	50594752	50594752	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:50594752C>T	uc010qgq.2	-	3	402	c.402G>A	c.(400-402)aaG>aaA	p.K134K	DRGX_uc021pqd.1_Silent_p.K129K	NM_001080520	NP_001073989	C9JW76	C9JW76_HUMAN	Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA.	134					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GCGCCTCCTTCTTACTCCGGG	0.642000														31			5		0	0	0.003080	0	0
FAM50B	26240	broad.mit.edu	37	6	3850489	3850489	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:3850489G>A	uc003mvu.3	+	1	556	c.444G>A	c.(442-444)gtG>gtA	p.V148V	FAM50B_uc021ykt.1_Silent_p.V148V	NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	Homo sapiens family with sequence similarity 50, member B (FAM50B), mRNA.	148						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				ACCCCGACGTGGACACCAGCT	0.662000														45			8		0	0	0.003080	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172139	207172139	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:207172139C>T	uc002vbp.2	+	4	3137	c.2887C>T	c.(2887-2889)Cct>Tct	p.P963S		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	963							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						TTCTGATGTCCCTCTTCAGGC	0.383000														36			4		0	0	0.009096	0	0
SORL1	6653	broad.mit.edu	37	11	121476278	121476278	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:121476278G>A	uc001pxx.3	+	34	5075	c.4946G>A	c.(4945-4947)gGa>gAa	p.G1649E	SORL1_uc010rzp.1_Missense_Mutation_p.G495E|SORL1_uc010rzq.1_Missense_Mutation_p.G264E	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1649					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)		ACCCCAGAGGGATGTAAGTGT	0.458000														93			32		0	0	0.013726	0	0
TNXB	7148	broad.mit.edu	37	6	31977639	31977639	+	RNA	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:31977639C>T	uc021yvf.1	-	8		c.2173G>A						P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB-S, mRNA.						actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGAAGGGGATCCGCAGCCCAC	0.701000														70			10		0	0	0.010729	0	0
TOPBP1	11073	broad.mit.edu	37	3	133329853	133329853	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:133329853C>A	uc003eps.3	-	24	4300	c.4168G>T	c.(4168-4170)Gtt>Ttt	p.V1390F		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA.	1390	BRCT 8.				DNA repair|response to ionizing radiation	PML body|microtubule organizing center|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AATACCTCAACAATGCCAGAT	0.328000								Other conserved DNA damage response genes						129			10		3.07112e-06	3.24136e-06	0.010729	1	0
RNF122	79845	broad.mit.edu	37	8	33416159	33416159	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:33416159G>A	uc003xjo.1	-	1	558	c.156C>T	c.(154-156)agC>agT	p.S52S		NM_024787	NP_079063	Q9H9V4	RN122_HUMAN	Homo sapiens ring finger protein 122 (RNF122), mRNA.	52						Golgi apparatus|endoplasmic reticulum|integral to membrane	zinc ion binding			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		AGAAGATAAGGCTGAGCATGA	0.547000														18			4		0	0	0.009096	0	0
TSPAN12	23554	broad.mit.edu	37	7	120428845	120428845	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:120428845A>G	uc003vjk.3	-	7	1093	c.719T>C	c.(718-720)cTc>cCc	p.L240P	TSPAN12_uc010lkj.3_Missense_Mutation_p.L113P	NM_012338	NP_036470	O95859	TSN12_HUMAN	Homo sapiens tetraspanin 12 (TSPAN12), mRNA.	240					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					AGTAATGGTGAGAATCATGGC	0.468000														67			7		0	0	0.001984	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22972261	22972261	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:22972261C>T	uc003xcy.3	+	2	566	c.258C>T	c.(256-258)ttC>ttT	p.F86F	TNFRSF10C_uc011kzr.2_Non-coding_Transcript	NM_003841	NP_003832	O14798	TR10C_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain (TNFRSF10C), mRNA.	86					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CTTCTTGCTTCCCATGTACAG	0.502000														63			8		0	0	0.004482	0	0
ZPBP	11055	broad.mit.edu	37	7	50057911	50057911	+	Splice_Site	SNP	A	C	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:50057911A>C	uc003tou.3	-	6	777	c.707_splice	c.e6-1	p.V236_splice	ZPBP_uc010kyw.3_Splice_Site_p.V235_splice	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	236					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CTAGAGATGAAACTGAGAAAA	0.303000														43			4		0	0	0.009096	0	0
FMO3	2328	broad.mit.edu	37	1	171080000	171080000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:171080000C>T	uc001ghi.3	+	5	800	c.689C>T	c.(688-690)cCt>cTt	p.P230L	FMO3_uc001ghh.3_Missense_Mutation_p.P230L|FMO3_uc010pmb.2_Missense_Mutation_p.P210L|FMO3_uc010pmc.2_Missense_Mutation_p.P167L	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	230					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AATGGTTATCCTTGGGACATG	0.463000														126			19		0	0	0.012319	0	0
ZNF189	7743	broad.mit.edu	37	9	104171026	104171026	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:104171026C>T	uc004bbh.1	+	2	1252	c.976C>T	c.(976-978)Cga>Tga	p.R326*	ZNF189_uc004bbg.1_Nonsense_Mutation_p.R284*|ZNF189_uc004bbi.1_Nonsense_Mutation_p.R312*|ZNF189_uc011lvk.1_Nonsense_Mutation_p.R311*|ZNF189_uc022ble.1_Nonsense_Mutation_p.R231*	NM_003452	NP_932094	O75820	ZN189_HUMAN	Homo sapiens zinc finger protein 189 (ZNF189), transcript variant 1, mRNA.	326					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAAAGCCTTTCGATTAAGCAC	0.398000														59			7		0	0	0.003080	0	0
COL12A1	1303	broad.mit.edu	37	6	75898978	75898978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:75898978G>A	uc021zbv.1	-	5	813	c.778C>T	c.(778-780)Cca>Tca	p.P260S	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.P260S|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_5'Flank	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	260	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TCTCTTGCTGGAATTTCCACT	0.373000														35			17		0	0	0.006122	0	0
SCN7A	6332	broad.mit.edu	37	2	167304175	167304175	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:167304175G>A	uc002udu.2	-	10	1464	c.1334C>T	c.(1333-1335)tCc>tTc	p.S445F	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	445					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TGTGTCTGTGGAAATTGGTGA	0.383000														63			18		0	0	0.014323	0	0
ZBTB20	26137	broad.mit.edu	37	3	114070395	114070395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:114070395G>A	uc003ebi.3	-	3	710	c.530C>T	c.(529-531)gCc>gTc	p.A177V	ZBTB20_uc003ebj.3_Missense_Mutation_p.A104V|ZBTB20_uc010hqp.3_Missense_Mutation_p.A104V|ZBTB20_uc003ebk.3_Missense_Mutation_p.A104V|ZBTB20_uc003ebl.3_Missense_Mutation_p.A104V|ZBTB20_uc003ebm.3_Missense_Mutation_p.A104V|ZBTB20_uc003ebn.3_Missense_Mutation_p.A104V|ZBTB20-AS1_uc003ebo.2_5'Flank	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CAGGATGCTGGCGGCCGTGAG	0.592000														30			6		0	0	0.001168	0	0
C8orf80	389643	broad.mit.edu	37	8	27888814	27888814	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:27888814C>T	uc003xgm.4	-	14	1997	c.1854G>A	c.(1852-1854)ggG>ggA	p.G618G		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	618						nucleus	GTP binding|GTPase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		CACTTCTTATCCCAATTTCTG	0.463000														75			17		0	0	0.004007	0	0
FRYL	285527	broad.mit.edu	37	4	48566105	48566105	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:48566105G>A	uc003gyh.1	-	30	4061	c.3456C>T	c.(3454-3456)ggC>ggT	p.G1152G	FRYL_uc003gyk.3_Silent_p.G1152G|FRYL_uc003gyi.1_Silent_p.G41G	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	1152					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTGCTTCACAGCCCAGCTGGT	0.478000														42			5		0	0	0.001168	0	0
KIF26A	26153	broad.mit.edu	37	14	104624133	104624133	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:104624133C>T	uc001yos.4	+	3	777	c.777C>T	c.(775-777)gtC>gtT	p.V259V		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	259					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CAGACACGGTCCGAGAATGCC	0.701000														16			6		0	0	0.001984	0	0
PSMB1	5689	broad.mit.edu	37	6	170852708	170852708	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:170852708G>A	uc011ehe.2	-	3	501	c.414C>T	c.(412-414)atC>atT	p.I138I	PSMB1_uc003qxq.2_Non-coding_Transcript|PSMB1_uc003qxr.3_Silent_p.I37I	NM_002793	NP_002784	P20618	PSB1_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 1 (PSMB1), mRNA.	138					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)	CAAGTCCACCGATGATGTTGT	0.418000														35			13		0	0	0.001855	0	0
CA6	765	broad.mit.edu	37	1	9019055	9019055	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:9019055C>T	uc001apm.3	+	3	519	c.495C>T	c.(493-495)ttC>ttT	p.F165F	CA6_uc009vmn.3_Silent_p.F105F	NM_001215	NP_001206	P23280	CAH6_HUMAN	Homo sapiens carbonic anhydrase VI (CA6), mRNA.	165					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding	p.F165F(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCAGCCTTCGTTGAGGTAA	0.408000														120			16		0	0	0.004990	0	0
NUDT7	283927	broad.mit.edu	37	16	77759470	77759470	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:77759470C>T	uc010chd.3	+	1	269	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	NUDT7_uc002fff.3_Missense_Mutation_p.R60W|NUDT7_uc021tlp.1_Missense_Mutation_p.R60W|NUDT7_uc021tlq.1_Missense_Mutation_p.R60W|NUDT7_uc010vnj.2_Missense_Mutation_p.R60W	NM_001105663	NP_001099133	P0C024	NUDT7_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 7 (NUDT7), transcript variant 1, mRNA.	60	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						GTTCACCGTCCGGTCAGAGAA	0.428000														35			5		0	0	0.000602	0	0
ILVBL	10994	broad.mit.edu	37	19	15233527	15233527	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:15233527G>A	uc002nam.3	-	5	814	c.693C>T	c.(691-693)ggC>ggT	p.G231G		NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	Homo sapiens ilvB (bacterial acetolactate synthase)-like (ILVBL), mRNA.	231						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						GGCCCACGAGGCCCTTGGGTG	0.622000														49			10		0	0	0.010729	0	0
CHAF1A	10036	broad.mit.edu	37	19	4429574	4429574	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:4429574C>T	uc002mal.3	+	8	1844	c.1744C>T	c.(1744-1746)Cgc>Tgc	p.R582C		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	582					DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCACTCATCCGCGCGCGAGA	0.622000								Chromatin Structure						32			6		0	0	0.003080	0	0
ITK	3702	broad.mit.edu	37	5	156638340	156638340	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:156638340C>T	uc003lwo.1	+	2	368	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	96	PH.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.R96H(2)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCTCCAGATCGTGAGAGCCG	0.493000			T	SYK	peripheral T-cell lymphoma									270			139		0	0	0.014410	0	0
CPS1	1373	broad.mit.edu	37	2	211540556	211540556	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:211540556C>T	uc010fur.3	+	36	4366	c.4284C>T	c.(4282-4284)tcC>tcT	p.S1428S	CPS1_uc002vee.4_Silent_p.S1422S|CPS1_uc010fus.3_Silent_p.S971S	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1422					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GCCTCTCTTCCATCAGAAAGT	0.448000														38			6		0	0	0.001168	0	0
GLI2	2736	broad.mit.edu	37	2	121742241	121742241	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:121742241G>A	uc010flp.3	+	10	1908	c.1878G>A	c.(1876-1878)gaG>gaA	p.E626E	GLI2_uc002tmq.1_Silent_p.E298E|GLI2_uc002tmr.1_Silent_p.E281E|GLI2_uc002tmt.4_Silent_p.E298E|GLI2_uc002tmu.4_Silent_p.E281E|GLI2_uc002tmw.1_Silent_p.E609E	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	626					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCGGCCCAGAGAGCACCGAGG	0.667000														37			6		0	0	0.003080	0	0
COL5A1	1289	broad.mit.edu	37	9	137677874	137677874	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:137677874C>T	uc004cfe.3	+	30	3008	c.2626C>T	c.(2626-2628)Cca>Tca	p.P876S		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	876	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACCAGGGTATCCAGGAAGACA	0.592000														13			3		0	0	0.000602	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094890	139094890	+	Missense_Mutation	SNP	C	T	T	rs143573686		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:139094890C>T	uc003qie.3	+	0	234	c.79C>T	c.(79-81)Ctc>Ttc	p.L27F	LOC100507462_uc003qid.2_5'Flank	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	Homo sapiens coiled-coil domain containing 28A (CCDC28A), mRNA.	27										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GAGGCTGTACCTCTTACGTCA	0.632000														106			50		0	0	0.014410	0	0
SERPINE1	5054	broad.mit.edu	37	7	100771851	100771851	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:100771851C>T	uc003uxt.3	+	1	325	c.177C>T	c.(175-177)ccC>ccT	p.P59P	SERPINE1_uc011kkj.2_Silent_p.P44P|SERPINE1_uc003uxu.2_5'Flank	NM_000602	NP_000593	P05121	PAI1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1), transcript variant 1, mRNA.	59					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	TTTTCTCACCCTATGGGGTGG	0.587000														36			8		0	0	0.004482	0	0
PKHD1	5314	broad.mit.edu	37	6	51491840	51491840	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:51491840G>A	uc003pah.1	-	65	12016	c.11740C>T	c.(11740-11742)Cga>Tga	p.R3914*		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3914					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.R3913R(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGTGATTCTCGGCGTTTGGAT	0.438000														109			11		0	0	0.008291	0	0
FILIP1	27145	broad.mit.edu	37	6	76063340	76063340	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:76063340C>T	uc010kbe.3	-	4	1083	c.553G>A	c.(553-555)Gag>Aag	p.E185K	FILIP1_uc003phy.1_Missense_Mutation_p.E182K|FILIP1_uc003phz.3_Missense_Mutation_p.E83K|FILIP1_uc003pia.3_Missense_Mutation_p.E182K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	182										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						TTCTCTAACTCGTATACGGTG	0.507000														123			28		0	0	0.005443	0	0
OR2T12	127064	broad.mit.edu	37	1	248458608	248458608	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:248458608G>A	uc010pzj.2	-	0	273	c.273C>T	c.(271-273)tcC>tcT	p.S91S		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			AGCCAGCGCGGGAGATGGCCT	0.562000														92			9		0	0	0.010729	0	0
KCNG1	3755	broad.mit.edu	37	20	49626318	49626318	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:49626318G>T	uc002xwa.4	-	1	853	c.558C>A	c.(556-558)gaC>gaA	p.D186E	KCNG1_uc002xwb.3_Missense_Mutation_p.D186E	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	186						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E185E(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CCAGCGCGTCGTCCTCTTCCT	0.711000														45			14		0.00244969	0.00257152	0.002450	1	0
GPR179	440435	broad.mit.edu	37	17	36486212	36486212	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:36486212C>T	uc002hpz.3	-	10	3261	c.3240G>A	c.(3238-3240)caG>caA	p.Q1080Q		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1080						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGGAACCCTGCTGAACAGGGG	0.582000														42			12		0	0	0.002450	0	0
WFDC3	140686	broad.mit.edu	37	20	44416617	44416617	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:44416617C>T	uc002xpf.1	-	3	300	c.216G>A	c.(214-216)agG>agA	p.R72R	WFDC3_uc002xpj.1_Non-coding_Transcript|WFDC3_uc002xph.1_Non-coding_Transcript|WFDC3_uc010ghh.1_Non-coding_Transcript	NM_080614	NP_542181	Q8IUB2	WFDC3_HUMAN	Homo sapiens WAP four-disulfide core domain 3 (WFDC3), mRNA.	72	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				AATCTCTTTTCCTCCCTGTAG	0.493000														23			7		0	0	0.003080	0	0
OR10T2	128360	broad.mit.edu	37	1	158369054	158369054	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:158369054G>A	uc010pih.2	-	0	203	c.203C>T	c.(202-204)tCa>tTa	p.S68L		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CTCAGAAAATGAAAGGATGAA	0.502000														21			4		0	0	0.009096	0	0
SLC9B2	133308	broad.mit.edu	37	4	103952958	103952958	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:103952958A>G	uc003hwx.4	-	9	2026	c.1154T>C	c.(1153-1155)gTt>gCt	p.V385A	SLC9B2_uc010iln.2_Missense_Mutation_p.V237A|SLC9B2_uc003hwy.3_Missense_Mutation_p.V385A|SLC9B2_uc011cew.2_Missense_Mutation_p.V328A|SLC9B2_uc011cex.1_Missense_Mutation_p.V328A	NM_178833	NP_849155	Q86UD5	NHDC2_HUMAN	Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 2 (SLC9B2), nuclear gene encoding mitochondrial protein, mRNA.	385					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										TATCTTTTCAACCTCTGCCTA	0.343000														16			6		0	0	0.001168	0	0
OR2T11	127077	broad.mit.edu	37	1	248790161	248790161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:248790161G>A	uc001ier.1	-	0	269	c.269C>T	c.(268-270)tCc>tTc	p.S90F		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			GGCCACAAAGGAAATGATCTT	0.493000														53			9		0	0	0.004482	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54604085	54604085	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:54604085C>A	uc003dhf.3	+	7	890	c.842C>A	c.(841-843)tCc>tAc	p.S281Y	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.S187Y|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.S15Y	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	281	VWFA.					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)		ACAGTCTCATCCATTTTGGAT	0.453000														143			19		1.01871e-10	1.0787e-10	0.008871	1	0
TCRBV12S2	0	broad.mit.edu	37	7	142231779	142231779	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:142231779C>T	uc003vyh.2	-	1	236	c.138G>A	c.(136-138)tgG>tgA	p.W46*	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|TCRBV12S2_uc022anm.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		TGTTGTGGTTCCAAGTCTGGT	0.488000														87			7		0	0	0.003080	0	0
SLC9B1	150159	broad.mit.edu	37	4	103822377	103822377	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:103822377G>A	uc003hww.3	-	11	1587	c.1445C>T	c.(1444-1446)cCa>cTa	p.P482L	SLC9B1_uc003hwu.3_Intron|SLC9B1_uc010ilm.3_Intron|SLC9B1_uc003hwv.3_Intron|SLC9B1_uc011cev.2_Missense_Mutation_p.P255L	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 (SLC9B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	482						integral to membrane	solute:hydrogen antiporter activity	p.P482Q(1)									AGCTCCATTTGGAGCTGTGAT	0.443000														214			53		0	0	0.014410	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665960	19665960	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:19665960G>A	uc002wrl.3	+	11	1476	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	427	Poly-Glu.					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.D427N(2)|p.D427D(1)		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						ggaagaggaggacgaggatga	0.522000														48			14		0	0	0.004007	0	0
IMPA2	3613	broad.mit.edu	37	18	12030427	12030427	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr18:12030427G>A	uc002kqp.2	+	7	1079	c.837G>A	c.(835-837)acG>acA	p.T279T	IMPA2_uc021uhq.1_Silent_p.T90T	NM_014214	NP_055029	O14732	IMPA2_HUMAN	Homo sapiens inositol(myo)-1(or 4)-monophosphatase 2 (IMPA2), mRNA.	279					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	CCTTACAGACGATTAACTATG	0.627000														39			7		0	0	0.003080	0	0
PRKAA2	5563	broad.mit.edu	37	1	57171786	57171786	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:57171786C>T	uc001cyk.4	+	7	1386	c.1315C>T	c.(1315-1317)Cgt>Tgt	p.R439C		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	439					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	p.R439C(1)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						ATACCATCTTCGTGTAAGAAG	0.294000														38			7		0	0	0.003080	0	0
FANCE	2178	broad.mit.edu	37	6	35434023	35434023	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:35434023C>T	uc003oko.1	+	9	1697	c.1512C>T	c.(1510-1512)atC>atT	p.I504I	FANCE_uc010jvw.1_Silent_p.I497I|RPL10A_uc003okp.1_5'Flank|RPL10A_uc003oks.1_5'Flank	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Homo sapiens Fanconi anemia, complementation group E (FANCE), mRNA.	504					DNA repair	nucleoplasm	protein binding	p.N503N(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						CTCCCCAGATCACTGAGACCC	0.582000			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					66			6		0	0	0.004482	0	0
PTPRT	11122	broad.mit.edu	37	20	40733322	40733322	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:40733322C>T	uc002xkg.3	-	24	3611	c.3427G>A	c.(3427-3429)Gcg>Acg	p.A1143T	PTPRT_uc010ggj.3_Missense_Mutation_p.A1162T|PTPRT_uc010ggi.3_Missense_Mutation_p.A346T	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1143	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGAGGCACGCTTCCAGGATG	0.522000														44			11		0	0	0.010729	0	0
PAPPA2	60676	broad.mit.edu	37	1	176760600	176760600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:176760600G>A	uc001gkz.3	+	18	6166	c.5002G>A	c.(5002-5004)Gaa>Aaa	p.E1668K	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1668	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.E1668V(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTACAAATGTGAACAAGGATA	0.388000														29			5		0	0	0.000602	0	0
ABCC9	10060	broad.mit.edu	37	12	22059109	22059109	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:22059109C>T	uc001rfh.3	-	9	1589	c.1569G>A	c.(1567-1569)atG>atA	p.M523I	ABCC9_uc001rfi.1_Missense_Mutation_p.M523I	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	523	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATAGTTCTTTCATTCTTGTTT	0.368000														32			4		0	0	0.000602	0	0
FAM49A	81553	broad.mit.edu	37	2	16740730	16740730	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:16740730C>T	uc010exm.2	-	8	983	c.835G>A	c.(835-837)Gat>Aat	p.D279N	FAM49A_uc002rck.2_Missense_Mutation_p.D279N	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	279						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			ATTCTTACATCGATCTTGGAT	0.483000														83			6		0	0	0.001984	0	0
SLC28A1	9154	broad.mit.edu	37	15	85431019	85431019	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:85431019G>A	uc002blg.3	+	2	230	c.28G>A	c.(28-30)Gag>Aag	p.E10K	SLC28A1_uc010upd.1_5'UTR|SLC28A1_uc010bnb.3_Missense_Mutation_p.E10K|SLC28A1_uc010upe.2_Missense_Mutation_p.E10K|SLC28A1_uc010upf.1_Missense_Mutation_p.E10K|SLC28A1_uc010upg.1_Missense_Mutation_p.E10K|SLC28A1_uc002blf.3_Missense_Mutation_p.E10K	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	10					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GAGACGAAGAGAGTCCATCTC	0.582000														41			15		0	0	0.003163	0	0
ABI1	10006	broad.mit.edu	37	10	27149684	27149684	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:27149684A>G	uc001isx.3	-	0	333	c.109T>C	c.(109-111)Tac>Cac	p.Y37H	ABI1_uc001itb.3_Missense_Mutation_p.Y37H|ABI1_uc001ite.3_Missense_Mutation_p.Y37H|ABI1_uc010qdh.2_Missense_Mutation_p.Y37H|ABI1_uc010qdi.2_Missense_Mutation_p.Y37H|ABI1_uc001itc.3_Missense_Mutation_p.Y37H|ABI1_uc001isy.3_Missense_Mutation_p.Y37H|ABI1_uc001itd.3_Missense_Mutation_p.Y37H|ABI1_uc010qdj.2_Missense_Mutation_p.Y37H|ABI1_uc001ita.3_Missense_Mutation_p.Y37H|ABI1_uc010qdk.2_Missense_Mutation_p.Y37H|ABI1_uc001isz.3_Missense_Mutation_p.Y37H	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN	Homo sapiens abl-interactor 1 (ABI1), transcript variant 1, mRNA.	37	Required for binding to WASF1 (By similarity).				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACCTGTATGTAGTTGTTTTCA	0.642000														37			15		0	0	0.006122	0	0
AV2S1A1	0	broad.mit.edu	37	14	22356412	22356412	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:22356412G>A	uc021rph.1	+	1	175	c.73G>A	c.(73-75)Gag>Aag	p.E25K	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Missense_Mutation_p.E25K|AV2S1A1_uc021rpi.1_5'Flank					Homo sapiens mRNA for T cell receptor alpha variable 12, partial cds, clone: SEB 117-2.																		CCAACAGAAGGAGGTGGAGCA	0.498000														19			7		0	0	0.003080	0	0
FAM75A6	389730	broad.mit.edu	37	9	43627544	43627544	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:43627544G>A	uc011lrb.2	-	3	1172	c.1143C>T	c.(1141-1143)ccC>ccT	p.P381P		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	381						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						TGTTCCAGAAGGGTTTTGGGT	0.448000														172			24		0	0	0.003330	0	0
LPA	4018	broad.mit.edu	37	6	161007493	161007493	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:161007493G>A	uc003qtl.3	-	25	4237	c.4117C>T	c.(4117-4119)Cct>Tct	p.P1373S		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3881	Kringle 12.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TCTTCAGAAGGAAGCTCTGTG	0.478000														43			12		0	0	0.004007	0	0
HGD	3081	broad.mit.edu	37	3	120352073	120352073	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:120352073G>A	uc003edw.3	-	12	1569	c.1109C>T	c.(1108-1110)cCc>cTc	p.P370L	HGD_uc003edv.3_Missense_Mutation_p.P229L	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	370					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		AGGTCCATGGGGGGTCATTGT	0.542000														75			14		0	0	0.002450	0	0
HIST1H2BH	8345	broad.mit.edu	37	6	26252154	26252154	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:26252154C>T	uc003nhh.3	+	0	276	c.276C>T	c.(274-276)tcC>tcT	p.S92S	HIST1H3F_uc003nhg.1_5'Flank	NM_003524	NP_003515	Q93079	H2B1H_HUMAN	Homo sapiens histone cluster 1, H2bh (HIST1H2BH), mRNA.	92					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CCATCACCTCCAGGGAGATCC	0.602000														71			9		0	0	0.008291	0	0
METTL14	57721	broad.mit.edu	37	4	119631359	119631359	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:119631359C>T	uc003icf.3	+	10	1389	c.1273C>T	c.(1273-1275)Cgt>Tgt	p.R425C		NM_020961	NP_066012	Q9HCE5	MTL14_HUMAN	Homo sapiens methyltransferase like 14 (METTL14), mRNA.	425	Gly-rich.					nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						TTCTGCTGGCCGTGGACGAGA	0.522000														23			16		0	0	0.003163	0	0
ERBB4	2066	broad.mit.edu	37	2	212286791	212286791	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:212286791C>T	uc002veg.1	-	23	3003	c.2905G>A	c.(2905-2907)Gaa>Aaa	p.E969K	ERBB4_uc002veh.1_Missense_Mutation_p.E969K|ERBB4_uc010zji.1_Missense_Mutation_p.E959K|ERBB4_uc010zjj.1_Missense_Mutation_p.E959K	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	969	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GCAGCCAGTTCCTTAAATTTA	0.383000										TSP Lung(8;0.080)				24			10		0	0	0.013537	0	0
HENMT1	113802	broad.mit.edu	37	1	109191189	109191189	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:109191189C>T	uc001dvt.4	-	7	1419	c.1181G>A	c.(1180-1182)tGa>tAa	p.*394*	HENMT1_uc001dvu.4_Silent_p.*394*|HENMT1_uc009wer.3_3'UTR	NM_001102592	NP_653185	Q5T8I9	HENMT_HUMAN	Homo sapiens HEN1 methyltransferase homolog 1 (Arabidopsis) (HENMT1), transcript variant 2, mRNA.	0					gene silencing by RNA|piRNA metabolic process	P granule	O-methyltransferase activity|RNA binding|RNA methyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						AAACATGGTTCAAAACTCAAA	0.363000														18			5		0	0	0.001168	0	0
TMCC1	23023	broad.mit.edu	37	3	129547218	129547219	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:129547218_129547219CC>TT	uc021xdy.1	-	2	437_438	c.3_4GG>AA	c.(1-6)atggag>atAAag	p.1_2ME>IK	TMCC1_uc010htg.3_Intron	NM_001017395	NP_001121696	O94876	TMCC1_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA.	1						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CCCGAAGGCTCCATCAGTAGAC	0.411000														40			21		0	0	0.004672	0	0
REPS2	9185	broad.mit.edu	37	X	17151948	17151948	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:17151948C>T	uc004cxv.1	+	15	1750	c.1579_splice	c.e15-1	p.S527_splice	REPS2_uc004cxw.1_Splice_Site_p.S526_splice|REPS2_uc011miw.1_Splice_Site_p.S325_splice	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 2 (REPS2), transcript variant 1, mRNA.	527	Interaction with RALBP1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					TTGCTACAGTCTGAACAAGTG	0.478000														91			20		0	0	0.004656	0	0
TBC1D9	23158	broad.mit.edu	37	4	141555210	141555210	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:141555210G>A	uc010ioj.3	-	15	2910	c.2638C>T	c.(2638-2640)Cct>Tct	p.P880S		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	880						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CATGCCCAAGGAAAGAGAAGA	0.512000														13			4		0	0	0.009096	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066664	18066664	+	Silent	SNP	A	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:18066664A>G	uc003stz.3	-	0	823	c.742T>C	c.(742-744)Ttg>Ctg	p.L248L		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	248					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CCATGAGTCAAGATAGCATAA	0.458000														50			12		0	0	0.013537	0	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130648991	130648991	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:130648991G>A	uc004bsp.1	-	6	1004	c.885C>T	c.(883-885)tcC>tcT	p.S295S	ST6GALNAC6_uc004bsn.1_Nonsense_Mutation_p.Q263*|ST6GALNAC6_uc011man.1_Nonsense_Mutation_p.Q97*|ST6GALNAC6_uc004bso.1_Nonsense_Mutation_p.Q297*|ST6GALNAC6_uc004bsq.1_Nonsense_Mutation_p.Q263*|ST6GALNAC6_uc004bsr.2_Nonsense_Mutation_p.Q263*|ST6GALNAC6_uc010mxp.1_Non-coding_Transcript			Q969X2	SIA7F_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 (ST6GALNAC6), mRNA.	291					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGCTCATTCTGGATGTAGGTG	0.617000														55			15		0	0	0.003163	0	0
ODZ1	10178	broad.mit.edu	37	X	123654524	123654524	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:123654524C>T	uc010nqy.3	-	17	3208	c.3144G>A	c.(3142-3144)acG>acA	p.T1048T	ODZ1_uc011muj.2_Silent_p.T1047T|ODZ1_uc004euj.3_Silent_p.T1048T	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1048					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CTACAGGAATCGTTGAATGTG	0.493000														34			13		0	0	0.001855	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537042	5537042	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:5537042T>G	uc001maz.4	-	0	915	c.630A>C	c.(628-630)gaA>gaC	p.E210D	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	210										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GGCGGGAAACTTCTGGGTTCT	0.463000														100			18		0	0	0.004990	0	0
BTBD8	284697	broad.mit.edu	37	1	92573483	92573483	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:92573483T>A	uc001doo.3	+	3	854	c.587T>A	c.(586-588)tTa>tAa	p.L196*	BTBD8_uc010otc.2_Non-coding_Transcript	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	Homo sapiens BTB (POZ) domain containing 8 (BTBD8), mRNA.	196						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		GGAGAAGATTTATTGAAGCTT	0.303000														45			7		0	0	0.003080	0	0
LAIR1	3903	broad.mit.edu	37	19	54871657	54871657	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:54871657G>A	uc002qfk.1	-	3	697	c.387C>T	c.(385-387)tcC>tcT	p.S129S	LAIR1_uc002qfl.1_Intron|LAIR1_uc002qfm.1_Silent_p.S128S|LAIR1_uc002qfn.1_Intron|LAIR1_uc010yex.2_Silent_p.S122S|LAIR1_uc002qfo.3_Silent_p.S111S	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	129						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CTGTGTCCGGGGAGTCCGGGC	0.622000														39			10		0	0	0.004007	0	0
COL12A1	1303	broad.mit.edu	37	6	75893246	75893246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:75893246C>T	uc021zbv.1	-	8	1446	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.E471K|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.E129K	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	471	VWFA 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGTGAAATTTCAAAACTTTTT	0.353000														55			33		0	0	0.010818	0	0
MYF5	4617	broad.mit.edu	37	12	81111089	81111089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:81111089G>A	uc001szg.2	+	0	382	c.247G>A	c.(247-249)Gat>Aat	p.D83N		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	83					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CACCACCATGGATCGGCGGAA	0.617000														18			4		0	0	0.000602	0	0
HK1	3098	broad.mit.edu	37	10	71142522	71142522	+	Silent	SNP	C	T	T	rs61751207		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:71142522C>T	uc001jpl.4	+	9	1646	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F	HK1_uc001jpg.4_Silent_p.F503F|HK1_uc001jph.4_Silent_p.F519F|HK1_uc001jpi.4_Silent_p.F519F|HK1_uc001jpj.4_Silent_p.F550F|HK1_uc001jpk.4_Silent_p.F514F|HK1_uc009xqd.3_Silent_p.F393F	NM_000188	NP_000179	P19367	HXK1_HUMAN	Homo sapiens hexokinase 1 (HK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	515	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						TGCCCTCCTTCGTCCGGAGAA	0.627000														38			4		0	0	0.009096	0	0
OR5A2	219981	broad.mit.edu	37	11	59189494	59189494	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:59189494C>T	uc010rkt.2	-	0	933	c.933G>A	c.(931-933)ggG>ggA	p.G311G		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 2 (OR5A2), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P310H(1)		large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CGTGAGAAATCCCGGGGTCCC	0.418000														47			8		0	0	0.004482	0	0
SCN9A	6335	broad.mit.edu	37	2	167162325	167162325	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:167162325C>T	uc010fpl.3	-	4	914	c.573G>A	c.(571-573)ctG>ctA	p.L191L	SCN9A_uc002udr.1_Silent_p.L62L|SCN9A_uc002uds.1_Silent_p.L62L|SCN9A_uc002udt.1_Silent_p.L62L	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	191						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)	CGACAAAATCCAGCCAGTTCC	0.383000														28			13		0	0	0.013537	0	0
FMO1	2326	broad.mit.edu	37	1	171251361	171251361	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:171251361C>T	uc009wvz.3	+	6	1208	c.1072C>T	c.(1072-1074)Cct>Tct	p.P358S	FMO1_uc010pme.2_Missense_Mutation_p.P295S|FMO1_uc001ghl.3_Missense_Mutation_p.P358S|FMO1_uc001ghm.3_Missense_Mutation_p.P358S	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	358					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTATATCTTCCCTGCACATCT	0.488000														68			8		0	0	0.003080	0	0
ABCC9	10060	broad.mit.edu	37	12	22063888	22063888	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:22063888C>T	uc001rfh.3	-	6	1056	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K	ABCC9_uc001rfi.1_Missense_Mutation_p.E346K	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	346	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCAAGAAATTCCTTTGATGAG	0.368000														39			8		0	0	0.006214	0	0
TOX4	9878	broad.mit.edu	37	14	21961098	21961098	+	Silent	SNP	C	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:21961098C>G	uc001waz.3	+	6	1426	c.1323C>G	c.(1321-1323)ccC>ccG	p.P441P	TOX4_uc001way.3_Silent_p.P311P|TOX4_uc010tlu.2_Silent_p.P418P|TOX4_uc010tlv.2_Silent_p.P311P	NM_014828	NP_055643	O94842	TOX4_HUMAN	Homo sapiens TOX high mobility group box family member 4 (TOX4), mRNA.	441	Gln/Pro-rich.					PTW/PP1 phosphatase complex|chromatin|nucleus	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TGCCTCCACCCCGACTACAGC	0.582000														96			18		0	0	0.007413	0	0
NOX3	50508	broad.mit.edu	37	6	155718019	155718019	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:155718019G>A	uc003qqm.3	-	12	1761	c.1658C>T	c.(1657-1659)tCa>tTa	p.S553L		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	553							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GGGGTCAGCTGATGAATACAA	0.463000														54			19		0	0	0.006122	0	0
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:7577141C>T	uc002gim.2	-	7	991	c.797G>A	c.(796-798)gGa>gAa	p.G266E	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.G266E|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G134E|TP53_uc010cnf.1_Missense_Mutation_p.G134E|TP53_uc002gii.1_Missense_Mutation_p.G134E|TP53_uc010cni.1_Missense_Mutation_p.G266E|TP53_uc010cnh.1_Missense_Mutation_p.G266E|TP53_uc002gij.2_Missense_Mutation_p.G266E|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G266E(99)|p.G266V(78)|p.G266R(45)|p.L265P(15)|p.G266*(13)|p.G266fs*79(8)|p.0?(8)|p.G262_F270delGNLLGRNSF(4)|p.G266A(4)|p.L265R(4)|p.G262_S269delGNLLGRNS(4)|p.G266_E271delGRNSFE(4)|p.L265M(4)|p.L265fs*80(3)|p.?(3)|p.L265L(3)|p.G266T(2)|p.G266_N268delGRN(2)|p.G266G(2)|p.L265_R267delLGR(2)|p.L265_K305del41(2)|p.G266fs*4(2)|p.L265del(2)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265fs*81(1)|p.264_265insSSGNL(1)|p.G262fs*2(1)|p.L265Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCTGTTCCGTCCCAGTAGATT	0.517000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				8			5		0	0	0.000602	0	0
TAF1L	138474	broad.mit.edu	37	9	32630351	32630351	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:32630351C>T	uc003zrg.1	-	0	5317	c.5227G>A	c.(5227-5229)Gat>Aat	p.D1743N		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1743					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity	p.D1743Y(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTGCAAGATCACCATCTCCC	0.488000														104			20		0	0	0.010504	0	0
NALCN	259232	broad.mit.edu	37	13	101776979	101776979	+	Silent	SNP	G	A	A	rs79766279	byFrequency	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:101776979G>A	uc001vox.1	-	17	2361	c.2172C>T	c.(2170-2172)acC>acT	p.T724T		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	724						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAGTGACTGCGGTCTCCTTTT	0.328000														56			9		0	0	0.002450	0	0
SMOC2	64094	broad.mit.edu	37	6	168927053	168927053	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:168927053A>C	uc003qwr.2	+	2	504	c.284A>C	c.(283-285)aAg>aCg	p.K95T	SMOC2_uc003qws.2_Missense_Mutation_p.K95T	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	Homo sapiens SPARC related modular calcium binding 2 (SMOC2), transcript variant 1, mRNA.	95	Thyroglobulin type-1 1.				signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		GCCGAAAGGAAGTATACCCAG	0.507000														28			4		0	0	0.009096	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107449069	107449069	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:107449069G>A	uc002tdq.3	-	3	1214	c.1095C>T	c.(1093-1095)gtC>gtT	p.V365V	ST6GAL2_uc002tdr.3_Silent_p.V365V|ST6GAL2_uc002tds.3_Silent_p.V365V	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	365					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CCACCAAAATGACGTCTTTAT	0.468000														68			6		0	0	0.003080	0	0
PDE3B	5140	broad.mit.edu	37	11	14865471	14865471	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:14865471C>T	uc001mln.3	+	11	2772	c.2419C>T	c.(2419-2421)Cct>Tct	p.P807S	PDE3B_uc010rcr.2_Missense_Mutation_p.P756S	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.	807	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	Golgi apparatus|cytosol|endoplasmic reticulum|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTCAAACATTCCTGCATTAGA	0.438000														61			32		0	0	0.013726	0	0
HIVEP3	59269	broad.mit.edu	37	1	42046639	42046639	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:42046639G>A	uc001cgz.4	-	3	5043	c.3830C>T	c.(3829-3831)cCc>cTc	p.P1277L	HIVEP3_uc001cha.4_Missense_Mutation_p.P1277L|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.	1277					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)				CTCTGTGCTGGGGGAGAGGCC	0.617000														34			6		0	0	0.001984	0	0
CCDC73	493860	broad.mit.edu	37	11	32635300	32635300	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:32635300C>T	uc001mtv.3	-	15	2608	c.2564G>A	c.(2563-2565)gGa>gAa	p.G855E		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	855										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GAACATTTTTCCTGAAACAAT	0.348000														78			12		0	0	0.010729	0	0
ADAM18	8749	broad.mit.edu	37	8	39537695	39537695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:39537695G>A	uc003xni.3	+	15	1826	c.1771G>A	c.(1771-1773)Gga>Aga	p.G591R	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.G567R	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	591	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	p.G591E(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GAGATCAGATGGAACAGACAA	0.353000														15			6		0	0	0.001168	0	0
PTPRT	11122	broad.mit.edu	37	20	40714415	40714415	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:40714415C>T	uc002xkg.3	-	27	4109	c.3925G>A	c.(3925-3927)Gac>Aac	p.D1309N	PTPRT_uc010ggj.3_Missense_Mutation_p.D1328N|PTPRT_uc010ggi.3_Missense_Mutation_p.D512N	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1309	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.Q1308H(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATGTCCTCGTCGATGTCTGCG	0.557000														81			7		0	0	0.003080	0	0
FBXO15	201456	broad.mit.edu	37	18	71797881	71797881	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr18:71797881G>A	uc002llf.2	-	3	425	c.345C>T	c.(343-345)atC>atT	p.I115I	FBXO15_uc002lle.2_Silent_p.I39I	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	39										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		AGTAGATTCCGATCCAAATAA	0.338000														18			4		0	0	0.000602	0	0
PCLO	27445	broad.mit.edu	37	7	82545510	82545510	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:82545510A>T	uc003uhx.2	-	6	12081	c.11792T>A	c.(11791-11793)gTg>gAg	p.V3931E	PCLO_uc003uhv.2_Missense_Mutation_p.V3931E|PCLO_uc010lec.3_Missense_Mutation_p.V896E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3862					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						CATTGTTGCCACAGCTTGGAA	0.458000														277			29		0	0	0.008361	0	0
RNF219	79596	broad.mit.edu	37	13	79191089	79191089	+	Silent	SNP	G	A	A	rs149298632		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:79191089G>A	uc001vkw.1	-	5	866	c.807C>T	c.(805-807)tcC>tcT	p.S269S	BX647243_uc001vku.1_Non-coding_Transcript|RNF219_uc010afb.1_Silent_p.S79S	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	Homo sapiens ring finger protein 219 (RNF219), mRNA.	269							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TCTGGCAAATGGAATTCATAG	0.438000														56			9		0	0	0.004482	0	0
TMEM62	80021	broad.mit.edu	37	15	43452952	43452952	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:43452952C>T	uc001zqr.3	+	9	1535	c.1256C>T	c.(1255-1257)cCc>cTc	p.P419L	TMEM62_uc010bda.3_Missense_Mutation_p.P289L	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN	Homo sapiens transmembrane protein 62 (TMEM62), mRNA.	419						integral to membrane		p.P419H(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		AGTTTTGATCCCCTGGCATCA	0.328000														34			10		0	0	0.013537	0	0
SUSD1	64420	broad.mit.edu	37	9	114905786	114905786	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:114905786G>A	uc010mui.3	-	3	532	c.491C>T	c.(490-492)cCt>cTt	p.P164L	MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Missense_Mutation_p.P164L|SUSD1_uc010muj.3_Missense_Mutation_p.P164L			Q6UWL2	SUSD1_HUMAN	Homo sapiens sushi domain containing 1 (SUSD1), mRNA.	164						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CGGGTGGAAAGGTTCAGGTCC	0.507000														56			7		0	0	0.001984	0	0
HEATR8	374977	broad.mit.edu	37	1	55175713	55175713	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:55175713C>T	uc010ooe.1	+	23	4149	c.3825C>T	c.(3823-3825)tcC>tcT	p.S1275S	HEATR8_uc001cxq.3_Intron|HEATR8_uc010ood.1_Silent_p.S793S|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Silent_p.S476S	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	1275						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGCAGAACTCCTGGCTGCCGC	0.617000														35			4		0	0	0.009096	0	0
OR2L13	284521	broad.mit.edu	37	1	248262733	248262733	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:248262733C>T	uc001ids.3	+	2	393	c.56C>T	c.(55-57)cCa>cTa	p.P19L	OR2L13_uc021pmc.1_Missense_Mutation_p.P19L	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.P18P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CTGCTTCCCCCAAATCAAACT	0.408000														81			20		0	0	0.008871	0	0
CSMD2	114784	broad.mit.edu	37	1	34158602	34158602	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:34158602C>T	uc001bxm.1	-	24	4157	c.3980G>A	c.(3979-3981)gGg>gAg	p.G1327E	CSMD2_uc001bxn.1_Missense_Mutation_p.G1287E|CSMD2_uc001bxo.1_Missense_Mutation_p.G200E	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1287	CUB 8.					integral to membrane|plasma membrane	protein binding	p.R1327H(1)		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)				AGCTGGATACCCGGGTGACAG	0.552000														142			17		0	0	0.007413	0	0
MOV10L1	54456	broad.mit.edu	37	22	50537973	50537973	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr22:50537973G>A	uc003bjj.3	+	2	467	c.384G>A	c.(382-384)gtG>gtA	p.V128V	MOV10L1_uc003bjk.4_Silent_p.V128V|MOV10L1_uc011arp.2_Silent_p.V108V|MOV10L1_uc010han.3_Silent_p.V108V	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	128					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CTTCCCTGGTGGAGGGCGCAG	0.527000														45			8		0	0	0.004482	0	0
RERE	473	broad.mit.edu	37	1	8416241	8416241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:8416241G>A	uc001ape.3	-	21	5215	c.4405C>T	c.(4405-4407)Ccc>Tcc	p.P1469S	RERE_uc001apf.3_Missense_Mutation_p.P1469S|RERE_uc001apd.3_Missense_Mutation_p.P915S	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1469	Pro-rich.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGCGGGTAGGGGAAGCGAGCC	0.642000														60			5		0	0	0.003080	0	0
PKD1L2	114780	broad.mit.edu	37	16	81181855	81181855	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:81181855G>A	uc002fgh.1	-	28	4861	c.4861C>T	c.(4861-4863)Cgg>Tgg	p.R1621W	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.	1621					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						TTCGCGACCCGGGGACGGGTG	0.587000														42			6		0	0	0.003080	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94539924	94539924	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:94539924G>A	uc003unp.3	+	1	781	c.499G>A	c.(499-501)Gga>Aga	p.G167R	PPP1R9A_uc010lfj.3_Missense_Mutation_p.G167R|PPP1R9A_uc011kif.2_Missense_Mutation_p.G167R|PPP1R9A_uc003unq.3_Missense_Mutation_p.G167R|PPP1R9A_uc011kig.2_Missense_Mutation_p.G167R	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	167						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AGAGAAAGCTGGAGGGAGTGA	0.498000										HNSCC(28;0.073)				52			11		0	0	0.010729	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540481	133540481	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:133540481G>A	uc002ttp.3	-	13	4277	c.3903C>T	c.(3901-3903)atC>atT	p.I1301I	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1301							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TATTGGTAATGATCTGAGTGC	0.562000														72			6		0	0	0.001984	0	0
HYDIN	54768	broad.mit.edu	37	16	71015351	71015351	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:71015351G>A	uc002ezr.3	-	28	4601	c.4450C>T	c.(4450-4452)Ctg>Ttg	p.L1484L		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1485										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)				TCTCCGCTCAGAGTGATATTT	0.483000														35			8		0	0	0.002450	0	0
XKR3	150165	broad.mit.edu	37	22	17288747	17288747	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr22:17288747A>C	uc002zlv.3	-	1	315	c.217T>G	c.(217-219)Ttt>Gtt	p.F73V	XKR3_uc011agf.2_Missense_Mutation_p.F73V	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	73						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ACAATAATAAAGCTGATGGTA	0.358000														42			9		0	0	0.004482	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716319	13716319	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:13716319G>A	uc001rbt.2	-	12	4032	c.3853C>T	c.(3853-3855)Ccg>Tcg	p.P1285S		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1285					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			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)	GAATTAGTCGGGCTCTGAGGG	0.597000														68			11		0	0	0.010729	0	0
abParts	0	broad.mit.edu	37	2	90008072	90008072	+	RNA	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:90008072G>A	uc010yts.2	+	14		c.2360G>A								Parts of antibodies, mostly variable regions.																		AGTGGATCTGGGACAGATTTC	0.502000														128			10		0	0	0.010729	0	0
DSCAM	1826	broad.mit.edu	37	21	42080488	42080488	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr21:42080488G>A	uc002yyq.1	-	1	705	c.253C>T	c.(253-255)Ccc>Tcc	p.P85S	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	85	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGAGGGAAGGGGAAAATTTGG	0.498000														52			8		0	0	0.003080	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125521687	125521687	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:125521687T>G	uc010flu.3	+	15	2860	c.2496T>G	c.(2494-2496)aaT>aaG	p.N832K	CNTNAP5_uc002tno.3_Missense_Mutation_p.N831K	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	831	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCCTAGAAAATCTTGGCATTA	0.363000														78			7		0	0	0.006214	0	0
ATG2B	55102	broad.mit.edu	37	14	96800178	96800178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:96800178C>T	uc001yfi.3	-	7	1419	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	352										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTTTTCCTATCTTTATTAGCT	0.343000														55			4		0	0	0.000602	0	0
OPRL1	4987	broad.mit.edu	37	20	62724142	62724142	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:62724142C>T	uc002yic.3	+	2	488	c.69C>T	c.(67-69)tcC>tcT	p.S23S	OPRL1_uc002yid.3_Silent_p.S23S|OPRL1_uc021wgs.1_Silent_p.S23S|OPRL1_uc002yif.4_Silent_p.S23S	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	23					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	X-opioid receptor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GCAACCTGTCCCTCCTGAGCC	0.647000														65			24		0	0	0.004656	0	0
FTSJD2	23070	broad.mit.edu	37	6	37443964	37443964	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:37443964C>T	uc003ons.3	+	19	2352	c.2099C>T	c.(2098-2100)cCc>cTc	p.P700L		NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA.	700					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						GACATGAATCCCATCAGGTGA	0.547000														72			24		0	0	0.005443	0	0
MAGI2	9863	broad.mit.edu	37	7	78130895	78130895	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:78130895C>T	uc003ugx.3	-	5	1219	c.965_splice	c.e5+1	p.D322_splice	MAGI2_uc003ugy.3_Splice_Site_p.D322_splice|MAGI2_uc011kgr.1_Splice_Site_p.D154_splice|MAGI2_uc011kgs.1_Splice_Site_p.D159_splice	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	322	Interaction with DDN.|WW 1.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GAAACTCACTCAATGAAGTAG	0.388000														67			15		0	0	0.004990	0	0
KIAA0319	9856	broad.mit.edu	37	6	24547428	24547428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:24547428C>T	uc011djo.2	-	20	3684	c.3184G>A	c.(3184-3186)Gga>Aga	p.G1062R	KIAA0319_uc011djp.2_Missense_Mutation_p.G1017R|KIAA0319_uc003neh.1_Missense_Mutation_p.G1062R|KIAA0319_uc011djq.1_Missense_Mutation_p.G1053R|KIAA0319_uc011djr.1_Missense_Mutation_p.G1001R|KIAA0319_uc010jpt.1_Missense_Mutation_p.G473R	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	1062					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AAGGAAGCTCCATTTCTGATG	0.463000														91			14		0	0	0.003163	0	0
CSMD2	114784	broad.mit.edu	37	1	34112404	34112404	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:34112404G>A	uc001bxm.1	-	28	4795	c.4618C>T	c.(4618-4620)Cat>Tat	p.H1540Y	CSMD2_uc001bxn.1_Missense_Mutation_p.H1500Y|CSMD2_uc001bxo.1_Missense_Mutation_p.H413Y	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1500	CUB 9.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCGTAGATATGGAGGAAGTCA	0.547000														18			5		0	0	0.000602	0	0
EXOC2	55770	broad.mit.edu	37	6	599156	599156	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:599156C>T	uc003mtd.3	-	7	946	c.812G>A	c.(811-813)aGa>aAa	p.R271K	EXOC2_uc003mte.3_Missense_Mutation_p.R271K|EXOC2_uc011dho.2_Intron	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Homo sapiens exocyst complex component 2 (EXOC2), mRNA.	271					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GAGTGCATTTCTAGTGGAATC	0.333000														138			18		0	0	0.010504	0	0
MASP1	5648	broad.mit.edu	37	3	186938832	186938832	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:186938832C>T	uc003frh.2	-	14	2290	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K		NM_001879	NP_001870	P48740	MASP1_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA.	634	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CCTTCCTTCTCCCCAGCACAG	0.567000														17			7		0	0	0.003080	0	0
SPRR1B	6699	broad.mit.edu	37	1	153004923	153004923	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:153004923C>T	uc001fba.3	+	1	166	c.102C>T	c.(100-102)atC>atT	p.I34I	SPRR1B_uc021ozp.1_Silent_p.I34I	NM_003125	NP_003116	P22528	SPR1B_HUMAN	Homo sapiens small proline-rich protein 1B (SPRR1B), mRNA.	34	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACCATGCATCCCCAAAACCA	0.637000														101			18		0	0	0.012319	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059262	152059262	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:152059262G>A	uc001ezo.1	-	2	961	c.896C>T	c.(895-897)cCc>cTc	p.P299L		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	299							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTGTGAACTGGGCTCATCTTC	0.433000														171			22		0	0	0.004656	0	0
TRHDE	29953	broad.mit.edu	37	12	72866856	72866856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:72866856G>A	uc001sxa.3	+	4	1375	c.1345G>A	c.(1345-1347)Gac>Aac	p.D449N		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	449					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GTGGTTTGGTGACCTTGTGAC	0.373000														114			18		0	0	0.006122	0	0
PKLR	5313	broad.mit.edu	37	1	155264143	155264143	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:155264143G>A	uc001fkb.4	-	6	1038	c.999C>T	c.(997-999)atC>atT	p.I333I	PKLR_uc001fka.4_Silent_p.I302I	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	333					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	p.G332V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GTGCCACCATGATGCCGTCGC	0.567000														22			6		0	0	0.001168	0	0
FREM2	341640	broad.mit.edu	37	13	39422804	39422804	+	Missense_Mutation	SNP	G	A	A	rs143509403		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:39422804G>A	uc001uwv.3	+	7	6685	c.6376G>A	c.(6376-6378)Gat>Aat	p.D2126N	FREM2_uc001uww.3_Missense_Mutation_p.D212N	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2126	Calx-beta 4.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTCTGTCTCCGATTGTGAGTG	0.358000														10			3		0	0	0.009096	0	0
FCRL1	115350	broad.mit.edu	37	1	157773774	157773774	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:157773774G>A	uc001frg.3	-	2	293	c.180C>T	c.(178-180)gcC>gcT	p.A60A	FCRL1_uc001frf.3_5'Flank|FCRL1_uc001frh.3_Silent_p.A60A|FCRL1_uc001fri.3_Silent_p.A60A|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	60	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity	p.A60A(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTGGGCCCAAGGCCCGGGTGT	0.577000														85			25		0	0	0.004656	0	0
DNAH9	1770	broad.mit.edu	37	17	11622765	11622765	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:11622765C>T	uc002gne.3	+	26	5735	c.5667C>T	c.(5665-5667)atC>atT	p.I1889I	DNAH9_uc010coo.3_Silent_p.I1183I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1889	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CACTGGGCATCCTGGTCTATG	0.627000														43			8		0	0	0.004482	0	0
NBEAL1	65065	broad.mit.edu	37	2	203948235	203948235	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:203948235G>T	uc002uzt.3	+	8	1311	c.978G>T	c.(976-978)caG>caT	p.Q326H		NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	326							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTGCTCTACAGATCAAAATGC	0.323000														176			62		3.7469e-33	3.99368e-33	0.014410	1	0
DENND3	22898	broad.mit.edu	37	8	142188236	142188236	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:142188236C>A	uc003yvy.3	+	15	2815	c.2537C>A	c.(2536-2538)tCa>tAa	p.S846*	DENND3_uc010mep.3_Nonsense_Mutation_p.S807*	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	846										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			ACACTGCAGTCACCAGGCGCC	0.507000														18			4		0.00024832	0.000260951	0.009096	1	0
MUC6	4588	broad.mit.edu	37	11	1029567	1029567	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:1029567G>A	uc001lsw.2	-	8	1115	c.1064C>T	c.(1063-1065)aCc>aTc	p.T355I		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	355	TIL.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGGCACTGGGTGACGGGCAC	0.642000														28			9		0	0	0.006214	0	0
MYO1A	4640	broad.mit.edu	37	12	57430593	57430593	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:57430593G>A	uc001smw.4	-	20	2477	c.2237C>T	c.(2236-2238)tCc>tTc	p.S746F	MYO1A_uc010sqz.2_Missense_Mutation_p.S584F|MYO1A_uc009zpd.3_Missense_Mutation_p.S746F	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	746	IQ 3.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CAATAACACGGATGCCTTTAT	0.453000														87			18		0	0	0.010504	0	0
KLK7	5650	broad.mit.edu	37	19	51483667	51483667	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:51483667G>A	uc002puo.3	-	3	400	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	KLK7_uc002pup.3_Missense_Mutation_p.R100C|KLK7_uc021uyj.1_Missense_Mutation_p.R93C|KLK7_uc010eok.3_Missense_Mutation_p.R28C	NM_139277	NP_001193982	P49862	KLK7_HUMAN	Homo sapiens kallikrein-related peptidase 7 (KLK7), transcript variant 2, mRNA.	100	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		CCGGGGTGGCGGAATGACTTC	0.557000														35			4		0	0	0.009096	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999065	112999065	+	Silent	SNP	T	C	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:112999065T>C	uc001ebx.3	+	5	1179	c.951T>C	c.(949-951)ttT>ttC	p.F317F	CTTNBP2NL_uc001ebz.3_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	Homo sapiens CTTNBP2 N-terminal like (CTTNBP2NL), mRNA.	317						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGAGAGTTTTCCAGCAGAAA	0.483000														102			36		0	0	0.003271	0	0
KCNU1	157855	broad.mit.edu	37	8	36766833	36766833	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:36766833G>A	uc010lvw.3	+	20	2198	c.2111G>A	c.(2110-2112)cGa>cAa	p.R704Q	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	704						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCTTAGAAACGAACTGGCAAG	0.468000														127			20		0	0	0.012319	0	0
DMBT1	1755	broad.mit.edu	37	10	124390709	124390709	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:124390709G>A	uc001lgk.1	+	45	5977	c.5871G>A	c.(5869-5871)ggG>ggA	p.G1957G	DMBT1_uc001lgl.1_Silent_p.G1947G|DMBT1_uc001lgm.1_Silent_p.G1329G|DMBT1_uc021qaf.1_Silent_p.G1957G|DMBT1_uc021qag.1_Silent_p.G1947G|DMBT1_uc021qah.1_Silent_p.G1329G|DMBT1_uc009xzz.1_Silent_p.G1957G|DMBT1_uc010qtx.1_Silent_p.G677G|DMBT1_uc009yab.1_Silent_p.G660G|DMBT1_uc009yac.1_Silent_p.G251G	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1957	SRCR 14.				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)				AGTGCTCAGGGACGGAATCCA	0.552000														79			8		0	0	0.003080	0	0
OR2D3	120775	broad.mit.edu	37	11	6942379	6942379	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:6942379C>T	uc010rav.2	+	0	147	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 3 (OR2D3), mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTTTCCTCATCATTTATCTGC	0.423000														54			6		0	0	0.003080	0	0
PKD1L1	168507	broad.mit.edu	37	7	47898329	47898329	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:47898329G>A	uc003tny.2	-	26	4338	c.4304C>T	c.(4303-4305)tCg>tTg	p.S1435L		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1435	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTCCTCCTTCGAGTTTTCTTG	0.433000														60			24		0	0	0.004656	0	0
MYOM3	127294	broad.mit.edu	37	1	24388476	24388476	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:24388476C>T	uc001bin.4	-	32	4057	c.3894G>A	c.(3892-3894)ggG>ggA	p.G1298G	MYOM3_uc001bil.4_Silent_p.G191G|MYOM3_uc001bim.4_Silent_p.G955G	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	1298										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGACTTCCTTCCCTGCAGCTA	0.532000														156			24		0	0	0.005443	0	0
NR1I3	9970	broad.mit.edu	37	1	161201215	161201215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:161201215C>T	uc001fzx.3	-	5	801	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	TOMM40L_uc009wuf.2_Intron|NR1I3_uc021pbw.1_Missense_Mutation_p.E200K|NR1I3_uc001fzm.3_Missense_Mutation_p.E125K|NR1I3_uc001fzn.3_Missense_Mutation_p.E33K|NR1I3_uc001fzf.3_Missense_Mutation_p.E200K|NR1I3_uc009wug.3_Missense_Mutation_p.E33K|NR1I3_uc001fzo.3_Missense_Mutation_p.E33K|NR1I3_uc001fzt.3_Missense_Mutation_p.E33K|NR1I3_uc001fzs.3_Missense_Mutation_p.E33K|NR1I3_uc001fzr.3_Nonsense_Mutation_p.W96*|NR1I3_uc001fzq.3_Nonsense_Mutation_p.W96*|NR1I3_uc001fzv.3_Nonsense_Mutation_p.W67*|NR1I3_uc001fzu.3_Nonsense_Mutation_p.W67*|NR1I3_uc001fzy.3_Missense_Mutation_p.E200K|NR1I3_uc001fzw.3_Missense_Mutation_p.E200K|NR1I3_uc001fzz.3_Missense_Mutation_p.E200K|NR1I3_uc001fzh.3_Missense_Mutation_p.E171K|NR1I3_uc001gab.3_Missense_Mutation_p.E200K|NR1I3_uc001gac.3_Missense_Mutation_p.E171K|NR1I3_uc001fzp.3_Missense_Mutation_p.E200K|NR1I3_uc001fzg.3_Missense_Mutation_p.E171K|NR1I3_uc001gaa.3_Missense_Mutation_p.E200K|NR1I3_uc001fzj.3_Missense_Mutation_p.E171K|NR1I3_uc001fzi.3_Missense_Mutation_p.E171K|NR1I3_uc001fzl.3_Missense_Mutation_p.E171K|NR1I3_uc001fzk.3_Missense_Mutation_p.E171K|NR1I3_uc010pkm.2_Missense_Mutation_p.E171K|NR1I3_uc010pkn.1_Missense_Mutation_p.E200K	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 3 (NR1I3), transcript variant 2, mRNA.	200					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGACAGATTTCCACAGCTGCT	0.463000														59			21		0	0	0.003954	0	0
TNRC6C	57690	broad.mit.edu	37	17	76045228	76045228	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:76045228C>T	uc002jud.2	+	3	685	c.85C>T	c.(85-87)Caa>Taa	p.Q29*	TNRC6C_uc002juf.2_Nonsense_Mutation_p.Q29*|TNRC6C_uc002jue.2_Nonsense_Mutation_p.Q29*	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	29	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CGCACTCGTCCAAAGCCCTTC	0.557000														30			8		0	0	0.003080	0	0
DCC	1630	broad.mit.edu	37	18	50734142	50734142	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr18:50734142C>T	uc002lfe.2	+	10	2432	c.1816C>T	c.(1816-1818)Ccg>Tcg	p.P606S	DCC_uc010xdr.1_Missense_Mutation_p.P454S|DCC_uc010dpf.2_Missense_Mutation_p.P261S	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	606	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.P606P(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCGCTATGGTCCGGGCGTCTC	0.353000														100			12		0	0	0.013537	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35130006	35130006	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:35130006T>G	uc003teq.1	-	20	2286	c.1179A>C	c.(1177-1179)gaA>gaC	p.E393D	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		TCTCTCCTACTTCTTTGGCAG	0.299000														112			9		0	0	0.006214	0	0
SCN11A	11280	broad.mit.edu	37	3	38938483	38938483	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:38938483C>T	uc021wvy.1	-	13	2455	c.2256G>A	c.(2254-2256)ggG>ggA	p.G752G	SCN11A_uc010hhn.1_5'Flank	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	752					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)	GCCAGAAATCCCCCATGTGCC	0.493000														32			10		0	0	0.008291	0	0
RHBDL3	162494	broad.mit.edu	37	17	30616032	30616032	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:30616032G>A	uc010csx.1	+	3	530	c.516G>A	c.(514-516)ctG>ctA	p.L172L	RHBDL3_uc002hhe.1_Silent_p.L172L|RHBDL3_uc010csw.1_Silent_p.L164L|RHBDL3_uc010csy.1_Silent_p.L74L|RHBDL3_uc002hhf.1_Silent_p.L74L			P58872	RHBL3_HUMAN	Homo sapiens rhomboid, veinlet-like 3 (Drosophila) (RHBDL3), mRNA.	172					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				TCACGCTGCTGGAGGCAAGGA	0.602000														24			5		0	0	0.000602	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94697070	94697070	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:94697070G>A	uc001dqj.4	-	1	467	c.98C>T	c.(97-99)tCc>tTc	p.S33F	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Missense_Mutation_p.S33F	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	33					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GGAACTTAAGGACTTGAGCCC	0.383000														74			14		0	0	0.002450	0	0
TOP3A	7156	broad.mit.edu	37	17	18181278	18181278	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:18181278G>A	uc002gsx.1	-	17	2767	c.2538C>T	c.(2536-2538)ttC>ttT	p.F846F	TOP3A_uc010cpz.1_Silent_p.F298F|TOP3A_uc010vxr.1_Silent_p.F376F|TOP3A_uc002gsw.1_Silent_p.F298F|TOP3A_uc010vxs.1_Silent_p.F744F	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA.	846	2 X 27 AA approximate repeats.				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						CTGCCCACAGGAAGAAGTTGC	0.647000														39			16		0	0	0.004007	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919635	12919635	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:12919635C>T	uc001aum.1	+	2	462	c.375C>T	c.(373-375)ttC>ttT	p.F125F		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	125										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCCTGCTTCCCAGAGGCCA	0.537000														243			60		0	0	0.014410	0	0
ABCC12	94160	broad.mit.edu	37	16	48167618	48167618	+	Missense_Mutation	SNP	G	A	A	rs145682279		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:48167618G>A	uc002efc.1	-	6	1454	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Missense_Mutation_p.R370C|ABCC12_uc010vgj.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	370	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GTGAGTTTGCGTCTCAGGAGG	0.577000														47			5		0	0	0.001168	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449518	105449518	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:105449518G>A	uc022cca.1	+	0	93	c.93G>A	c.(91-93)agG>agA	p.R31R	MUM1L1_uc004emg.2_Silent_p.R31R|MUM1L1_uc004emf.2_Silent_p.R31R	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	31										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACAGTAAGAGGAAAAAGGCAT	0.353000														6			3		0	0	0.009096	0	0
NIPAL2	79815	broad.mit.edu	37	8	99205236	99205236	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:99205236C>T	uc003yim.1	-	10	1378	c.1122G>A	c.(1120-1122)aaG>aaA	p.K374K	NIPAL2_uc011lgw.1_Silent_p.K170K|NIPAL2_uc003yil.1_3'UTR			Q9H841	NPAL2_HUMAN	Homo sapiens NIPA-like domain containing 2 (NIPAL2), mRNA.	0						integral to membrane				cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						CACTTTGGCTCTTTGTTGAGT	0.383000														53			5		0	0	0.001168	0	0
TGM2	7052	broad.mit.edu	37	20	36789988	36789988	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:36789988C>T	uc002xhr.3	-	1	124	c.24G>A	c.(22-24)gaG>gaA	p.E8E	TGM2_uc010zvx.2_Silent_p.E8E|TGM2_uc010zvy.2_Intron|TGM2_uc002xhs.1_Silent_p.E8E|TGM2_uc002xht.3_Silent_p.E8E|TGM2_uc002xhu.3_Silent_p.E8E	NM_004613	NP_004604	P21980	TGM2_HUMAN	Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	8					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	GATCACACCTCTCTAAGACCA	0.622000														63			19		0	0	0.010504	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820810	35820810	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:35820810T>G	uc010ngt.1	+	1	776	c.497T>G	c.(496-498)tTt>tGt	p.F166C	MAGEB16_uc022bus.1_Missense_Mutation_p.F166C	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	166	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GAGATGATATTTGGCCTTGAT	0.478000														24			10		0	0	0.013537	0	0
APOL3	80833	broad.mit.edu	37	22	36538042	36538042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr22:36538042C>T	uc003aot.3	-	2	453	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	APOL3_uc003aoq.3_Missense_Mutation_p.E68K|APOL3_uc003aor.3_Missense_Mutation_p.E68K|APOL3_uc003aos.3_Missense_Mutation_p.E68K|APOL3_uc003aou.3_5'UTR|APOL3_uc003aov.3_5'UTR|APOL3_uc021wol.1_5'Flank	NM_145640	NP_663617	O95236	APOL3_HUMAN	Homo sapiens apolipoprotein L, 3 (APOL3), transcript variant alpha/d, mRNA.	139					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TGCACATATTCGTCCTCAATA	0.438000														38			11		0	0	0.008291	0	0
ZNF667	63934	broad.mit.edu	37	19	56953336	56953336	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:56953336G>A	uc002qne.3	-	6	1819	c.1028C>T	c.(1027-1029)tCa>tTa	p.S343L	ZNF667_uc010etl.3_Missense_Mutation_p.S125L|ZNF667_uc002qnd.3_Missense_Mutation_p.S343L|ZNF667_uc010etm.3_Missense_Mutation_p.S286L	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CATCAGGGGTGAAATCCTATT	0.388000														68			9		0	0	0.004482	0	0
MYLK4	340156	broad.mit.edu	37	6	2685565	2685565	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:2685565G>A	uc003mty.4	-	5	807	c.510C>T	c.(508-510)ttC>ttT	p.F170F		NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	Homo sapiens myosin light chain kinase family, member 4 (MYLK4), mRNA.	170	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TCTTAGACTCGAAGGCATCGT	0.562000														93			32		0	0	0.004289	0	0
DCDC5	100506627	broad.mit.edu	37	11	30938460	30938460	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:30938460C>T	uc009yjk.1	-	13	1822	c.1753G>A	c.(1753-1755)Gaa>Aaa	p.E585K	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Missense_Mutation_p.E244K	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	216					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						AGCCCTTTTTCCGTTTTCTTT	0.413000														30			17		0	0	0.004007	0	0
ZIM3	114026	broad.mit.edu	37	19	57646515	57646515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:57646515C>T	uc002qnz.1	-	4	1576	c.1190G>A	c.(1189-1191)gGa>gAa	p.G397E		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAAGGCTTTTCCACATCTGTT	0.393000														110			18		0	0	0.004990	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939049	2939049	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:2939049C>T	uc001ajz.3	+	0	1004	c.799C>T	c.(799-801)Cag>Tag	p.Q267*		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	267						cytoplasm|cytoskeleton		p.Q267E(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GTTCGTGCCCCAGCAGCTGGG	0.632000														88			5		0	0	0.000602	0	0
SYTL1	84958	broad.mit.edu	37	1	27673962	27673962	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:27673962G>A	uc001bnw.2	+	2	439	c.242G>A	c.(241-243)gGg>gAg	p.G81E	SYTL1_uc001bnv.2_Missense_Mutation_p.G81E|SYTL1_uc001bnx.2_Missense_Mutation_p.G81E|SYTL1_uc009vsv.2_Missense_Mutation_p.G81E	NM_001193308	NP_001180237	Q8IYJ3	SYTL1_HUMAN	Homo sapiens synaptotagmin-like 1 (SYTL1), transcript variant 1, mRNA.	81	RabBD.				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	Rab GTPase binding|neurexin binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ATCCTGACAGGGGACTGGTTC	0.617000														52			12		0	0	0.010729	0	0
RCOR1	23186	broad.mit.edu	37	14	103167667	103167667	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:103167667G>A	uc001ymb.3	+	4	726	c.489_splice	c.e4+1	p.Q163_splice		NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN	Homo sapiens REST corepressor 1 (RCOR1), mRNA.	163	ELM2.|Interaction with HDAC1.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|protein binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						ACATGGAACAGGTAATATCAT	0.323000														48			4		0	0	0.000602	0	0
TMEM67	91147	broad.mit.edu	37	8	94809390	94809390	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:94809390C>T	uc011lgk.2	+	18	1960	c.1889C>T	c.(1888-1890)tCc>tTc	p.S630F	TMEM67_uc010maw.2_Missense_Mutation_p.S336F|TMEM67_uc003yga.4_Missense_Mutation_p.S549F|TMEM67_uc011lgl.2_Missense_Mutation_p.S29F	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.	630					ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AAGCTCATATCCCAGATTACA	0.323000														31			8		0	0	0.004482	0	0
CD200R1L	344807	broad.mit.edu	37	3	112548169	112548169	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:112548169C>T	uc003dzi.1	-	1	335	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	CD200R1L_uc010hqf.1_Missense_Mutation_p.E16K|CD200R1L_uc011bhw.1_Missense_Mutation_p.E16K	NM_001008784	NP_001186144	Q6Q8B3	MO2R2_HUMAN	Homo sapiens CD200 receptor 1-like (CD200R1L), transcript variant 1, mRNA.	37						integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						ATATTACCTTCTGCAAAAATT	0.423000														20			6		0	0	0.001168	0	0
OR10K2	391107	broad.mit.edu	37	1	158390454	158390454	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:158390454C>T	uc010pii.2	-	0	203	c.203G>A	c.(202-204)tGc>tAc	p.C68Y		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C68F(4)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AATCTCAGAGCAAGAGAGGAT	0.488000														125			8		0	0	0.003080	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145474217	145474217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:145474217G>A	uc021ouy.1	+	0	889	c.889G>A	c.(889-891)Gac>Aac	p.D297N	LIX1L_uc001enr.3_5'Flank|ANKRD34A_uc001enq.1_Missense_Mutation_p.D297N	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	Homo sapiens ankyrin repeat domain 34A (ANKRD34A), mRNA.	297	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGGCCCTGAGGACCCGCCCCC	0.642000														22			11		0	0	0.010729	0	0
GRIP1	23426	broad.mit.edu	37	12	66923614	66923614	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:66923614G>A	uc001stk.3	-	4	740	c.499C>T	c.(499-501)Cga>Tga	p.R167*	GRIP1_uc010sta.1_Nonsense_Mutation_p.R111*|GRIP1_uc001stm.3_Nonsense_Mutation_p.R167*|GRIP1_uc001stl.1_Nonsense_Mutation_p.R111*	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	167	PDZ 2.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CACCTACCTCGAATTACAAAA	0.343000														48			11		0	0	0.013537	0	0
FANK1	92565	broad.mit.edu	37	10	127697113	127697113	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:127697113C>T	uc009yan.3	+	8	1025	c.921C>T	c.(919-921)ccC>ccT	p.P307P	FANK1_uc001ljh.4_Silent_p.P281P|FANK1_uc001lji.3_Silent_p.P275P	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	Homo sapiens fibronectin type III and ankyrin repeat domains 1 (FANK1), mRNA.	281						cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GAAAGACGCCCCTTATGGTAG	0.468000														50			9		0	0	0.006214	0	0
ZNF699	374879	broad.mit.edu	37	19	9407285	9407285	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:9407285G>A	uc002mlc.1	-	4	795	c.795C>T	c.(793-795)ttC>ttT	p.F265F		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	Homo sapiens zinc finger protein 699 (ZNF699), mRNA.	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTGCCCTAAAGAATGAGGAAC	0.393000														44			5		0	0	0.000602	0	0
PRKCB	5579	broad.mit.edu	37	16	24046747	24046747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:24046747G>A	uc002dmd.3	+	4	605	c.408G>A	c.(406-408)atG>atA	p.M136I	PRKCB_uc002dme.3_Missense_Mutation_p.M136I	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	136					B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CAGCCTGCATGATGAATGTGC	0.632000														49			8		0	0	0.008291	0	0
TAAR9	134860	broad.mit.edu	37	6	132859895	132859895	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:132859895C>T	uc011eci.2	+	1	466	c.464C>T	c.(463-465)tCc>tTc	p.S155F		NM_175057	NP_778227	Q96RI9	TAAR9_HUMAN	Homo sapiens trace amine associated receptor 9 (gene/pseudogene) (TAAR9), mRNA.	156						plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		ATTGTTCTTTCCTGGTTCTTT	0.413000														51			19		0	0	0.006122	0	0
GABRA1	2554	broad.mit.edu	37	5	161302609	161302609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:161302609C>T	uc010jiw.3	+	6	988	c.520C>T	c.(520-522)Cct>Tct	p.P174S	GABRA1_uc010jix.3_Missense_Mutation_p.P174S|GABRA1_uc010jiy.3_Missense_Mutation_p.P174S|GABRA1_uc003lyx.4_Missense_Mutation_p.P174S|GABRA1_uc010jiz.3_Missense_Mutation_p.P174S|GABRA1_uc010jja.3_Missense_Mutation_p.P174S|GABRA1_uc010jjb.3_Missense_Mutation_p.P174S	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	174					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	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;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GGAGGACTTCCCTATGGATGC	0.378000														61			19		0	0	0.012319	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153270486	153270486	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:153270486G>A	uc001fbn.1	-	6	1025	c.972C>T	c.(970-972)tcC>tcT	p.S324S		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	324					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.L323L(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTGCCCAGGGGACAGGATGT	0.592000														162			61		0	0	0.014410	0	0
METTL9	51108	broad.mit.edu	37	16	21629267	21629267	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:21629267C>T	uc002dje.3	+	2	637	c.438C>T	c.(436-438)acC>acT	p.T146T	LOC23117_uc021tel.1_Intron|METTL9_uc002djf.3_Silent_p.T146T	NM_016025	NP_057109	Q9H1A3	METL9_HUMAN	Homo sapiens methyltransferase like 9 (METTL9), transcript variant 1, mRNA.	146										endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		ACTGGAAAACCCACAGACTTC	0.393000														74			14		0	0	0.001855	0	0
MARCH4	57574	broad.mit.edu	37	2	217142513	217142513	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:217142513G>A	uc002vgb.3	-	2	2514	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 4 (MARCH4), mRNA.	249						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		AAATACTGGCGATGAGGAAGA	0.562000														60			6		0	0	0.001168	0	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768587	31768587	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr21:31768587G>A	uc002yoa.3	+	0	196	c.183G>A	c.(181-183)tgG>tgA	p.W61*		NM_181599	NP_853630	Q8IUC0	KR131_HUMAN	Homo sapiens keratin associated protein 13-1 (KRTAP13-1), mRNA.	61	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGACCTGCTGGGAGCCCACCA	0.607000														29			4		0	0	0.000602	0	0
OR2A5	393046	broad.mit.edu	37	7	143748223	143748223	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:143748223C>T	uc011ktw.2	+	0	729	c.729C>T	c.(727-729)tcC>tcT	p.S243S		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CCTGCTCCTCCCACCTTTGCA	0.617000														84			20		0	0	0.014323	0	0
RAB19	401409	broad.mit.edu	37	7	140107535	140107535	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:140107535A>G	uc010lni.2	+	1	287	c.89A>G	c.(88-90)aAg>aGg	p.K30R	RAB19_uc011krc.1_Missense_Mutation_p.K30R	NM_001008749	NP_001008749	A4D1S5	RAB19_HUMAN	Homo sapiens RAB19, member RAS oncogene family (RAB19), mRNA.	30					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					AATGTGGGGAAGACGTGTGTG	0.493000														51			10		0	0	0.008291	0	0
PECR	55825	broad.mit.edu	37	2	216908654	216908654	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:216908654G>A	uc002vft.3	-	6	874	c.799C>T	c.(799-801)Ctc>Ttc	p.L267F	PECR_uc010zjq.2_Non-coding_Transcript	NM_018441	NP_060911	Q9BY49	PECR_HUMAN	Homo sapiens peroxisomal trans-2-enoyl-CoA reductase (PECR), mRNA.	267					fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	TGAGTATAGAGACTCCGGCCC	0.493000														50			8		0	0	0.004482	0	0
DNAH5	1767	broad.mit.edu	37	5	13913929	13913929	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:13913929A>C	uc003jfd.2	-	10	1501	c.1459T>G	c.(1459-1461)Ttt>Gtt	p.F487V	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	487	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGGGTTGTAAAGATGTCTATT	0.358000									Kartagener syndrome					58			9		0	0	0.004482	0	0
FAM221B	392307	broad.mit.edu	37	9	35819900	35819901	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:35819900_35819901GT>AA	uc010mlc.2	-	3	1124_1125	c.839_840AC>TT	c.(838-840)cac>cTT	p.H280L	FAM221B_uc003zyj.2_Non-coding_Transcript|FAM221B_uc011lpg.1_Missense_Mutation_p.H280L	NM_001012446	NP_001012448	A6H8Z2	CI128_HUMAN	Homo sapiens chromosome 9 open reading frame 128 (C9orf128), mRNA.	280										endometrium(2)|kidney(1)|lung(4)	7						AGATGATCCGGTGCTCTCTCAA	0.525000														34			5		0	0	0.004672	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72498716	72498716	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:72498716G>A	uc001jrg.3	+	10	1727	c.1727G>A	c.(1726-1728)cGa>cAa	p.R576Q	ADAMTS14_uc001jrh.3_Missense_Mutation_p.R573Q|ADAMTS14_uc001jri.1_Missense_Mutation_p.R96Q	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	573	TSP type-1 1.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GGCGGGGTGCGATCCCGCAGC	0.657000														32			4		0	0	0.000602	0	0
OR2A5	393046	broad.mit.edu	37	7	143748185	143748186	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:143748185_143748186GG>AA	uc011ktw.2	+	0	691_692	c.691_692GG>AA	c.(691-693)ggg>AAg	p.G231K		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S230Y(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GATCCAGTCTGGGGAGGGCCGC	0.604000														90			26		0	0	0.004672	0	0
C6orf15	29113	broad.mit.edu	37	6	31079814	31079814	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:31079814C>T	uc003nsk.1	-	1	322	c.322G>A	c.(322-324)Gat>Aat	p.D108N	PSORS1C1_uc003nsl.2_5'Flank|PSORS1C1_uc010jsj.2_5'Flank	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.	108										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						GGCCAGGAATCCATGGCAGGC	0.627000														39			12		0	0	0.013537	0	0
OR8I2	120586	broad.mit.edu	37	11	55861147	55861147	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:55861147C>T	uc010rix.2	+	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122H(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GGCCTACAATCGCTACATAGC	0.433000														51			22		0	0	0.010504	0	0
PCLO	27445	broad.mit.edu	37	7	82764634	82764634	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:82764634C>T	uc003uhx.2	-	2	2521	c.2232G>A	c.(2230-2232)caG>caA	p.Q744Q	PCLO_uc003uhv.2_Silent_p.Q744Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	690	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGCCTTGTCCTGCTCAGATG	0.517000														50			6		0	0	0.001984	0	0
OR2T2	401992	broad.mit.edu	37	1	248616379	248616379	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:248616379C>T	uc001iek.1	+	0	281	c.281C>T	c.(280-282)tCc>tTc	p.S94F		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAGACCATTTCCTTCCTGGGC	0.522000														339			15		0	0	0.004990	0	0
SPG11	80208	broad.mit.edu	37	15	44944342	44944342	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:44944342G>A	uc001ztx.3	-	4	1023	c.992C>T	c.(991-993)tCc>tTc	p.S331F	SPG11_uc010ueh.2_Missense_Mutation_p.S331F|SPG11_uc010uei.2_Missense_Mutation_p.S331F|SPG11_uc001zua.1_Missense_Mutation_p.S331F	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	331					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AATTTGGAAGGAAAACTTGGC	0.358000														37			16		0	0	0.006122	0	0
TRIM51	84767	broad.mit.edu	37	11	55653274	55653274	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:55653274C>T	uc010rip.2	+	1	462	c.370C>T	c.(370-372)Cac>Tac	p.H124Y	TRIM51_uc010riq.2_5'Flank	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	124						intracellular	zinc ion binding										GCACCGGAATCACATACACTG	0.478000														19			7		0	0	0.004482	0	0
ZNF212	7988	broad.mit.edu	37	7	148947455	148947455	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:148947455C>T	uc003wfp.3	+	1	358	c.230C>T	c.(229-231)gCt>gTt	p.A77V		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	Homo sapiens zinc finger protein 212 (ZNF212), mRNA.	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			AAGAAGCTGGCTGACTGCGAG	0.652000														63			12		0	0	0.013537	0	0
SPON1	10418	broad.mit.edu	37	11	14063082	14063082	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:14063082A>C	uc001mle.3	+	2	628	c.360A>C	c.(358-360)gaA>gaC	p.E120D		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	120	Reelin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		TAGACGAAGAAGAAACTCAGT	0.453000														115			10		0	0	0.008291	0	0
ARIH2	10425	broad.mit.edu	37	3	48965197	48965197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:48965197C>T	uc003cvb.3	+	2	518	c.206C>T	c.(205-207)tCt>tTt	p.S69F	ARIH2_uc003cvc.3_Missense_Mutation_p.S69F|ARIH2_uc003cvf.3_5'UTR|ARIH2_uc010hkl.3_Missense_Mutation_p.S69F|ARIH2_uc003cvd.1_Missense_Mutation_p.S69F|ARIH2_uc003cve.1_Missense_Mutation_p.S69F	NM_006321	NP_006312	O95376	ARI2_HUMAN	Homo sapiens ariadne homolog 2 (Drosophila) (ARIH2), mRNA.	69	Asp/Glu-rich (acidic).				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TACAAGGAATCTGAGGGTGCC	0.512000														44			11		0	0	0.013537	0	0
ZNF214	7761	broad.mit.edu	37	11	7021272	7021272	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:7021272G>A	uc009yfh.1	-	2	1941	c.1642C>T	c.(1642-1644)Cat>Tat	p.H548Y	ZNF214_uc001mfa.2_Missense_Mutation_p.H548Y|ZNF214_uc010ray.1_Missense_Mutation_p.H548Y	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	Homo sapiens zinc finger protein 214 (ZNF214), mRNA.	548					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TCTCCTGTATGGACCCTCTGA	0.418000														64			10		0	0	0.008291	0	0
ABI3BP	25890	broad.mit.edu	37	3	100595388	100595388	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:100595388C>T	uc003dun.3	-	6	819	c.734G>A	c.(733-735)aGg>aAg	p.R245K	ABI3BP_uc003duo.2_Missense_Mutation_p.R238K|ABI3BP_uc003dup.4_Missense_Mutation_p.R238K	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	245						extracellular space		p.R245T(3)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GATTAGTTTCCTTGGGACATA	0.363000														51			7		0	0	0.003080	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91386649	91386649	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:91386649A>G	uc001xys.2	-	6	922	c.707T>C	c.(706-708)gTt>gCt	p.V236A	RPS6KA5_uc010twi.1_Missense_Mutation_p.V157A|RPS6KA5_uc001xyt.3_Missense_Mutation_p.V236A|RPS6KA5_uc010att.1_Non-coding_Transcript	NM_004755	NP_004746	O75582	KS6A5_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 5 (RPS6KA5), transcript variant 1, mRNA.	236	Protein kinase 1.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CCACCAGTCAACTGCCTATAA	0.294000														80			24		0	0	0.004656	0	0
GP2	2813	broad.mit.edu	37	16	20329667	20329667	+	Missense_Mutation	SNP	C	T	T	rs17853083		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:20329667C>T	uc002dgv.3	-	7	1185	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	GP2_uc002dgw.3_Missense_Mutation_p.E365K|GP2_uc002dgx.3_Missense_Mutation_p.E221K|GP2_uc002dgy.3_Missense_Mutation_p.E218K	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	368	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GCATCCCCTTCGTAAGGATTC	0.507000														102			15		0	0	0.006122	0	0
CSMD1	64478	broad.mit.edu	37	8	2857554	2857554	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:2857554A>G	uc022aqr.1	-	52	8519	c.8129T>C	c.(8128-8130)tTc>tCc	p.F2710S	CSMD1_uc011kwj.2_Missense_Mutation_p.F2040S|CSMD1_uc010lrg.3_Missense_Mutation_p.F721S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2711	Sushi 18.					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)		CACAAGCCGGAAACCAGGATT	0.532000														69			9		0	0	0.004482	0	0
BDKRB1	623	broad.mit.edu	37	14	96730842	96730842	+	Silent	SNP	T	C	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:96730842T>C	uc021sbj.1	+	0	823	c.823T>C	c.(823-825)Tta>Cta	p.L275L	BDKRB1_uc001yfh.3_Silent_p.L275L	NM_000710	NP_000701	P46663	BKRB1_HUMAN	Homo sapiens bradykinin receptor B1 (BDKRB1), mRNA.	275					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		CCTGGAATTCTTATTCCAGGT	0.552000														61			11		0	0	0.010729	0	0
FAM83B	222584	broad.mit.edu	37	6	54735063	54735063	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:54735063C>T	uc003pck.3	+	1	135	c.19C>T	c.(19-21)Ctt>Ttt	p.L7F		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	7										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTCATCAATGCTTTCCTCATT	0.398000														44			8		0	0	0.003080	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125856685	125856685	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:125856685C>T	uc003eim.1	-	9	1385	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Missense_Mutation_p.D298N|ALDH1L1_uc003eio.3_Missense_Mutation_p.D101N|ALDH1L1_uc010hsf.1_Missense_Mutation_p.D425N	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	399					10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.D399N(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCCTCCTCATCGTCCCCTCGC	0.557000														32			11		0	0	0.008291	0	0
FAM135B	51059	broad.mit.edu	37	8	139277969	139277969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:139277969G>A	uc003yuy.3	-	3	445	c.274C>T	c.(274-276)Cat>Tat	p.H92Y	FAM135B_uc003yux.3_5'UTR|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	92										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AAGAGTAAATGAACTCGGAAG	0.473000										HNSCC(54;0.14)				30			7		0	0	0.001984	0	0
MYLK	4638	broad.mit.edu	37	3	123428636	123428636	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:123428636C>T	uc003ego.3	-	13	2191	c.1909G>A	c.(1909-1911)Gga>Aga	p.G637R	MYLK_uc011bjw.2_Missense_Mutation_p.G637R|MYLK_uc003egp.3_Missense_Mutation_p.G568R|MYLK_uc003egq.3_Missense_Mutation_p.G637R|MYLK_uc003egr.3_Missense_Mutation_p.G568R|MYLK_uc003egs.3_Missense_Mutation_p.G461R	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	637	Ig-like C2-type 5.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ACCTGGCTTCCATCCATGACT	0.517000														215			78		0	0	0.014410	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144864155	144864155	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:144864155G>A	uc021ouh.1	-	35	6242	c.5940C>T	c.(5938-5940)tcC>tcT	p.S1980S	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.S1980S|PDE4DIP_uc001elx.4_Silent_p.S1874S|PDE4DIP_uc001elv.4_Silent_p.S987S|PDE4DIP_uc001ema.3_Silent_p.S167S	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1980					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.S1980S(3)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTTCCTGGAGGGAAAGACGTT	0.468000			T	PDGFRB	MPD									446			38		0	0	0.008740	0	0
MARK1	4139	broad.mit.edu	37	1	220792035	220792035	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:220792035G>A	uc009xdw.3	+	8	1444	c.847G>A	c.(847-849)Gac>Aac	p.D283N	MARK1_uc001hmn.4_Missense_Mutation_p.D283N|MARK1_uc010pun.2_Missense_Mutation_p.D283N|MARK1_uc001hmm.4_Missense_Mutation_p.D261N	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	283	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TATGTCCACAGACTGTGAAAA	0.343000														48			11		0	0	0.010729	0	0
SLC5A7	60482	broad.mit.edu	37	2	108614294	108614294	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:108614294G>A	uc002tdv.3	+	5	725	c.449_splice	c.e5-1	p.G150_splice	SLC5A7_uc010ywm.2_Splice_Site|SLC5A7_uc010fjj.3_Splice_Site_p.G150_splice|SLC5A7_uc010ywn.2_Splice_Site_p.G37_splice	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	150					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTTGTTTCAGGAGCCACCATC	0.438000														226			67		0	0	0.014410	0	0
EFHB	151651	broad.mit.edu	37	3	19959793	19959793	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:19959793C>T	uc003cbl.4	-	3	1304	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N	EFHB_uc003cbm.3_Missense_Mutation_p.D240N	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	370					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						GGTGCTTGATCGTGAGATTTT	0.378000														230			77		0	0	0.014410	0	0
PLCL1	5334	broad.mit.edu	37	2	198949102	198949102	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:198949102C>T	uc010fsp.3	+	1	1259	c.861C>T	c.(859-861)atC>atT	p.I287I	PLCL1_uc002uuv.4_Silent_p.I208I	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	287					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TTAAAGAAATCCAGAAGAGCA	0.408000														43			18		0	0	0.006122	0	0
GABRP	2568	broad.mit.edu	37	5	170232762	170232762	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:170232762G>A	uc003mau.3	+	6	782	c.584G>A	c.(583-585)gGg>gAg	p.G195E	GABRP_uc011dev.2_Missense_Mutation_p.G195E	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	195						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGCTGAGAGGGAACGACTCT	0.527000														24			15		0	0	0.003163	0	0
COL6A6	131873	broad.mit.edu	37	3	130300724	130300724	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:130300724G>A	uc010htl.3	+	7	3898	c.3867G>A	c.(3865-3867)caG>caA	p.Q1289Q	COL6A6_uc003eni.4_5'Flank	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1289	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATACATTTCAGAATAAATCAG	0.328000														135			26		0	0	0.007291	0	0
PAK7	57144	broad.mit.edu	37	20	9624876	9624876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:9624876C>T	uc002wnl.2	-	3	646	c.101G>A	c.(100-102)gGc>gAc	p.G34D	PAK7_uc002wnk.2_Missense_Mutation_p.G34D|PAK7_uc002wnj.2_Missense_Mutation_p.G34D|PAK7_uc010gby.1_Missense_Mutation_p.G34D	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	34	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTGGGGAAGGCCGGTAAACTT	0.498000														47			21		0	0	0.008871	0	0
BCL9L	283149	broad.mit.edu	37	11	118773223	118773223	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:118773223G>A	uc001pug.3	-	5	2194	c.1229C>T	c.(1228-1230)tCc>tTc	p.S410F	BCL9L_uc009zal.3_Missense_Mutation_p.S405F	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	410	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CGTCTGGAGGGACCGTTCCCG	0.687000														29			7		0	0	0.003080	0	0
NOS3	4846	broad.mit.edu	37	7	150698495	150698495	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:150698495C>T	uc003wif.3	+	10	1706	c.1410C>T	c.(1408-1410)tcC>tcT	p.S470S	NOS3_uc011kuy.2_Silent_p.S264S|NOS3_uc011kva.2_Silent_p.S470S|NOS3_uc011kuz.2_Silent_p.S470S|NOS3_uc011kvb.2_Silent_p.S470S	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	470	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	ATTTCCTGTCCCCGGCCTTCC	0.617000														46			7		0	0	0.004482	0	0
CACNA1E	777	broad.mit.edu	37	1	181620515	181620515	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:181620515C>T	uc009wxt.3	+	6	1188	c.993C>T	c.(991-993)ttC>ttT	p.F331F	CACNA1E_uc001gow.3_Silent_p.F331F|CACNA1E_uc009wxs.3_Silent_p.F331F|CACNA1E_uc009wxr.3_Silent_p.F238F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	331					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCTGTACTTCATCCCCCTCA	0.428000														78			5		0	0	0.001984	0	0
PCNXL2	80003	broad.mit.edu	37	1	233231501	233231501	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:233231501G>A	uc001hvl.2	-	22	4181	c.3946_splice	c.e22+1	p.H1316_splice	PCNXL2_uc001hvm.1_Splice_Site|PCNXL2_uc009xfu.3_Intron|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Splice_Site	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1316						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GAAAGGATACGAGGAATGGCA	0.443000														5			4		0	0	0.009096	0	0
DNAH7	56171	broad.mit.edu	37	2	196681503	196681503	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:196681503G>A	uc002utj.4	-	50	9711	c.9610C>T	c.(9610-9612)Cgt>Tgt	p.R3204C		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3204					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCAATAGGACGATAGCCCATG	0.433000														51			11		0	0	0.010729	0	0
PRAMEF18	391003	broad.mit.edu	37	1	13695911	13695911	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:13695911G>A	uc009vny.1	-	2	1101	c.1054C>T	c.(1054-1056)Cag>Tag	p.Q352*		NM_001099850	NP_001093260	Q5VWM3	PRA18_HUMAN	Homo sapiens PRAME family member 18 (PRAMEF18), mRNA.	352										lung(2)|ovary(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAGAGGGTCTGAAGAGTGGCA	0.537000														199			44		0	0	0.014410	0	0
IMPG1	3617	broad.mit.edu	37	6	76720925	76720925	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:76720925T>G	uc003pik.1	-	7	954	c.824A>C	c.(823-825)aAg>aCg	p.K275T		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	275	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TGGAAGTTTCTTAAATATCTT	0.323000														60			4		0	0	0.009096	0	0
SMPD4	55627	broad.mit.edu	37	2	130930247	130930247	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:130930247G>A	uc002tqq.2	-	6	1724	c.575C>T	c.(574-576)cCg>cTg	p.P192L	SMPD4_uc002tqp.2_5'UTR|SMPD4_uc010yzy.2_Intron|SMPD4_uc010yzz.2_Intron|SMPD4_uc002tqs.2_Missense_Mutation_p.P60L|SMPD4_uc002tqr.2_Missense_Mutation_p.P192L|SMPD4_uc010zaa.2_Missense_Mutation_p.P79L|SMPD4_uc010zab.2_Missense_Mutation_p.P119L|SMPD4_uc002tqt.2_Missense_Mutation_p.P70L|SMPD4_uc010zac.2_Intron|SMPD4_uc010zad.2_Intron	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA.	153					sphingomyelin catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	atactcGAACGGATCTGAGAG	0.587000														67			20		0	0	0.003330	0	0
ITGA5	3678	broad.mit.edu	37	12	54799683	54799683	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:54799683G>A	uc001sga.3	-	9	1002	c.934C>T	c.(934-936)Cga>Tga	p.R312*	ITGA5_uc010sow.1_Non-coding_Transcript|ITGA5_uc009znp.1_Non-coding_Transcript	NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	312					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TAGAGGGATCGAATGTCTGAG	0.512000														66			5		0	0	0.000602	0	0
PRKACG	5568	broad.mit.edu	37	9	71628337	71628337	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:71628337G>A	uc004agy.3	-	0	703	c.672C>T	c.(670-672)gcC>gcT	p.A224A		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	224	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCACCCCTAGGGCCCACCAGT	0.622000														34			6		0	0	0.004482	0	0
C7	730	broad.mit.edu	37	5	40945392	40945392	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:40945392G>A	uc003jmh.3	+	6	774	c.660G>A	c.(658-660)cgG>cgA	p.R220R	C7_uc011cpn.1_Intron	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	220	MACPF.		R -> Q (in C7D).		complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CATCTAGTCGGAAGCGCTCCT	0.313000														15			9		0	0	0.006214	0	0
THSD7B	80731	broad.mit.edu	37	2	138330046	138330046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:138330046C>T	uc002tva.1	+	15	3253	c.3253C>T	c.(3253-3255)Cca>Tca	p.P1085S	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGAAATTCCCCCAGAAACCCA	0.463000														21			4		0	0	0.000602	0	0
abParts	0	broad.mit.edu	37	14	107178856	107178856	+	RNA	SNP	G	A	A	rs145906311	by1000genomes	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:107178856G>A	uc021ser.1	-	37		c.2482C>T								Parts of antibodies, mostly variable regions.																		TGTCCACAGGGTCCATGTTGG	0.512000														160			10		0	0	0.013537	0	0
DAB1	1600	broad.mit.edu	37	1	57491658	57491658	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:57491658G>A	uc009vzx.1	-	9	1102	c.782C>T	c.(781-783)cCc>cTc	p.P261L	DAB1_uc001cyt.1_Missense_Mutation_p.P259L|DAB1_uc001cyq.1_Missense_Mutation_p.P259L|DAB1_uc001cyr.1_Missense_Mutation_p.P175L|DAB1_uc009vzw.1_Missense_Mutation_p.P243L|DAB1_uc001cys.1_Missense_Mutation_p.P261L	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	294					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ACTTACGGGGGGAGAGGTTAT	0.458000														110			12		0	0	0.002450	0	0
ADAM21	8747	broad.mit.edu	37	14	70924646	70924646	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:70924646G>A	uc021rvq.1	+	0	430	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	ADAM21_uc001xmd.3_Missense_Mutation_p.E144K	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	144					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCTCACTTATGAAATTGAACC	0.438000														58			10		0	0	0.008291	0	0
SZT2	23334	broad.mit.edu	37	1	43905375	43905375	+	Missense_Mutation	SNP	G	A	A	rs146140125	byFrequency	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:43905375G>A	uc001cjk.2	+	48	6890	c.4280G>A	c.(4279-4281)cGa>cAa	p.R1427Q		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	2326						peroxisome		p.R1427L(3)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GACCCACTGCGAGAGGAGGAA	0.607000														83			11		0	0	0.010729	0	0
TRANK1	9881	broad.mit.edu	37	3	36873885	36873885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:36873885C>T	uc003cgj.3	-	20	7305	c.7057G>A	c.(7057-7059)Gaa>Aaa	p.E2353K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2353					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						TCCATATTTTCATCATCCCTG	0.478000														65			25		0	0	0.003954	0	0
TET1	80312	broad.mit.edu	37	10	70333230	70333230	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:70333230C>T	uc001jok.4	+	1	1640	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	379					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ATGGGAACTTCCTGGTGCTGA	0.507000														117			14		0	0	0.002450	0	0
ARID4A	5926	broad.mit.edu	37	14	58813764	58813764	+	Silent	SNP	A	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:58813764A>G	uc001xdp.3	+	13	1355	c.1101A>G	c.(1099-1101)caA>caG	p.Q367Q	ARID4A_uc001xdo.3_Silent_p.Q367Q|ARID4A_uc001xdq.3_Silent_p.Q367Q|ARID4A_uc010apg.1_Silent_p.Q45Q	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	367	ARID.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TATGGAAGCAAATTTATATGG	0.264000														28			7		0	0	0.006214	0	0
FAT3	120114	broad.mit.edu	37	11	92086811	92086811	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:92086811C>T	uc001pdj.4	+	0	1550	c.1533C>T	c.(1531-1533)atC>atT	p.I511I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	511	Cadherin 5.				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)				CCTATAGTATCGCTAGCCTGA	0.383000										TCGA Ovarian(4;0.039)				271			106		0	0	0.014410	0	0
NCOA5	57727	broad.mit.edu	37	20	44699170	44699171	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:44699170_44699171GG>AA	uc002xrd.3	-	1	571_572	c.43_44CC>TT	c.(43-45)cca>TTa	p.P15L	NCOA5_uc002xrc.3_5'UTR|NCOA5_uc002xre.3_Missense_Mutation_p.P15L	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	15	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	ATP binding|aminoacyl-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AAAGCCATATGGATCCCTGTGG	0.505000														70			10		0	0	0.004672	0	0
DDX49	54555	broad.mit.edu	37	19	19035781	19035781	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:19035781C>T	uc002nkq.2	+	8	1087	c.1020C>T	c.(1018-1020)gcC>gcT	p.A340A	HOMER3_uc002nkp.1_Intron|HOMER3_uc002nko.1_Intron|DDX49_uc002nks.2_Silent_p.A233A|DDX49_uc002nkr.2_Non-coding_Transcript|DDX49_uc002nkt.1_3'UTR	NM_019070	NP_061943	Q9Y6V7	DDX49_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 (DDX49), transcript variant 1, mRNA.	340	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding	p.T339M(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			GCCGGACGGCCCGTGCAGGTG	0.662000														8			4		0	0	0.009096	0	0
TCL6	27004	broad.mit.edu	37	14	96135887	96135887	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:96135887G>A	uc001yep.1	+	7		c.1511_splice	c.e7-1		TCL6_uc021sbf.1_Splice_Site|TCL6_uc021sbg.1_Splice_Site|TCL6_uc021sbh.1_Non-coding_Transcript|TCL6_uc001yet.1_Splice_Site|TCL6_uc001yeu.2_Splice_Site|TCL6_uc001yev.2_Non-coding_Transcript|TCL1B_uc021sbi.1_Splice_Site|TCL1B_uc001yew.3_Splice_Site|TCL1B_uc001yex.3_Splice_Site|TCL1B_uc010avj.3_Intron					Homo sapiens T-cell leukemia/lymphoma 6 (non-protein coding) (TCL6), non-coding RNA.											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		gttttctacaggttagaagca	0.522000			T	TRA@	T-ALL									30			4		0	0	0.000602	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	A	A	rs77484671		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:145367767G>A	uc021oul.1	+	82	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3455								p.E3455K(10)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000														31			5		0	0	0.001168	0	0
ZNF536	9745	broad.mit.edu	37	19	31039293	31039293	+	Missense_Mutation	SNP	G	A	A	rs140654011		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:31039293G>A	uc002nsu.1	+	3	2905	c.2767G>A	c.(2767-2769)Gac>Aac	p.D923N	ZNF536_uc010edd.1_Missense_Mutation_p.D923N	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	923					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.D923N(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGCTTTCATGGACAGTTTTGT	0.498000														155			25		0	0	0.005443	0	0
OOEP	441161	broad.mit.edu	37	6	74079101	74079101	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:74079101G>A	uc003pgu.4	-	1	198	c.198C>T	c.(196-198)gaC>gaT	p.D66D	OOEP_uc003pgv.4_Silent_p.D11D	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN	Homo sapiens oocyte expressed protein homolog (dog) (OOEP), mRNA.	66	KH; atypical.					cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						TTATGGCTCGGTCTGGGCCTA	0.537000														9			8		0	0	0.003080	0	0
PTPRK	5796	broad.mit.edu	37	6	128505770	128505770	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:128505770G>A	uc003qbk.3	-	6	1336	c.969C>T	c.(967-969)atC>atT	p.I323I	PTPRK_uc010kfc.3_Silent_p.I323I|PTPRK_uc003qbj.3_Silent_p.I323I|PTPRK_uc011ebu.2_Silent_p.I323I|PTPRK_uc003qbl.1_Silent_p.I193I|PTPRK_uc011ebv.1_Silent_p.I323I	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	323	Fibronectin type-III 1.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CTTTCAGGATGATAGGACCAT	0.453000														66			32		0	0	0.010818	0	0
FAM47B	170062	broad.mit.edu	37	X	34961230	34961230	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:34961230G>A	uc004ddi.2	+	0	318	c.282G>A	c.(280-282)aaG>aaA	p.K94K		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	94										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AAAGCAGGAAGAAAAAGCTGC	0.527000														26			18		0	0	0.006122	0	0
HESX1	8820	broad.mit.edu	37	3	57233859	57233859	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:57233859C>T	uc003din.4	-	0	422	c.88G>A	c.(88-90)Gac>Aac	p.D30N		NM_003865	NP_003856	Q9UBX0	HESX1_HUMAN	Homo sapiens HESX homeobox 1 (HESX1), mRNA.	30						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		TTCTTCTGGTCCAGTCCTAAG	0.488000														111			15		0	0	0.004007	0	0
TPPP	11076	broad.mit.edu	37	5	677984	677985	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:677984_677985GG>AA	uc003jbg.4	-	0	909_910	c.191_192CC>TT	c.(190-192)gcc>gTT	p.A64V	TPPP_uc003jbh.4_Missense_Mutation_p.A64V	NM_007030	NP_008961	O94811	TPPP_HUMAN	Homo sapiens tubulin polymerization promoting protein (TPPP), mRNA.	64	Mediates interaction with LIMK1.				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CGGTGGCCCTGGCGTCCCCGTG	0.663000														22			5		0	0	0.004672	0	0
NWD1	284434	broad.mit.edu	37	19	16860357	16860357	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:16860357C>T	uc002neu.4	+	5	1326	c.904C>T	c.(904-906)Ctt>Ttt	p.L302F	NWD1_uc002net.4_Missense_Mutation_p.L167F|NWD1_uc002nev.4_Missense_Mutation_p.L96F|NWD1_uc021uqg.1_Missense_Mutation_p.L167F	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	302							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCGCCACCACCTTTGGCAGAG	0.622000														24			6		0	0	0.001984	0	0
PCLO	27445	broad.mit.edu	37	7	82582033	82582033	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:82582033C>T	uc003uhx.2	-	4	8525	c.8236G>A	c.(8236-8238)Gat>Aat	p.D2746N	PCLO_uc003uhv.2_Missense_Mutation_p.D2746N|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2677					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						GCAGAAAGATCAATACATTTA	0.348000														23			8		0	0	0.004482	0	0
MCTP2	55784	broad.mit.edu	37	15	95022241	95022241	+	Missense_Mutation	SNP	G	A	A	rs141407505	byFrequency	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:95022241G>A	uc002btj.3	+	21	2680	c.2615G>A	c.(2614-2616)cGg>cAg	p.R872Q	MCTP2_uc010boj.3_Missense_Mutation_p.R601Q|MCTP2_uc010bok.3_Missense_Mutation_p.R817Q|MCTP2_uc002btl.3_Missense_Mutation_p.R460Q	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	872					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.R872W(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AGCCCCCTGCGGAAGAAGCGC	0.522000														14			4		0	0	0.001168	0	0
TCIRG1	10312	broad.mit.edu	37	11	67816682	67816682	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:67816682C>T	uc001one.3	+	14	1937	c.1808C>T	c.(1807-1809)gCc>gTc	p.A603V	TCIRG1_uc001ong.3_Missense_Mutation_p.A387V|TCIRG1_uc009ysd.3_5'Flank	NM_006019	NP_006044	Q13488	VPP3_HUMAN	Homo sapiens T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 (TCIRG1), transcript variant 1, mRNA.	603				Missing (in Ref. 1; AAA97878).	ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GCCGCCTCGGCCCCCAGCATC	0.632000														77			28		0	0	0.009535	0	0
TRANK1	9881	broad.mit.edu	37	3	36873917	36873917	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:36873917T>G	uc003cgj.3	-	20	7273	c.7025A>C	c.(7024-7026)aAa>aCa	p.K2342T		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2342					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						CATGCCAAATTTCCCTTCTAT	0.483000														68			25		0	0	0.004656	0	0
GCM2	9247	broad.mit.edu	37	6	10874463	10874463	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:10874463G>A	uc003mzn.4	-	4	1358	c.1286C>T	c.(1285-1287)cCc>cTc	p.P429L	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	429					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				AGGACCCCAGGGTTCTGGATA	0.552000														31			12		0	0	0.001855	0	0
DNAH11	8701	broad.mit.edu	37	7	21747388	21747388	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:21747388A>C	uc003svc.3	+	40	6670	c.6639A>C	c.(6637-6639)aaA>aaC	p.K2213N		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2213	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TAAACCCTAAAGCTGTGACAA	0.393000									Kartagener syndrome					31			7		0	0	0.001984	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008823	142008824	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:142008823_142008824CC>TT	uc003vxf.3	+	1	345_346	c.296_297CC>TT	c.(295-297)tcc>tTT	p.S99F	TRBV2_uc011kro.1_Intron|TRBV3-1_uc022amz.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		CACATCAATTCCCTGGAGCTTG	0.455000														45			7		0	0	0.004672	0	0
CORO2B	10391	broad.mit.edu	37	15	69011843	69011843	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:69011843C>T	uc002arj.4	+	10	1557	c.1263C>T	c.(1261-1263)gtC>gtT	p.V421V	CORO2B_uc021spj.1_Silent_p.V416V|CORO2B_uc010bic.3_Silent_p.V416V|CORO2B_uc002ark.3_Silent_p.V188V	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	Homo sapiens coronin, actin binding protein, 2B (CORO2B), transcript variant 1, mRNA.	421					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GTGTTGTGGTCAACGGAATAG	0.408000														34			17		0	0	0.004007	0	0
ANKRD45	339416	broad.mit.edu	37	1	173628333	173628333	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:173628333G>A	uc001gja.1	-	1	286	c.225C>T	c.(223-225)atC>atT	p.I75I	ANKRD45_uc001gjb.4_Silent_p.I75I	NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	91										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TTCTCCCAACGATGTCTTCTT	0.443000														55			27		0	0	0.004656	0	0
SEMA4G	57715	broad.mit.edu	37	10	102740344	102740344	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:102740344G>A	uc001krw.2	+	10	1745	c.1361G>A	c.(1360-1362)tGg>tAg	p.W454*	SEMA4G_uc001krv.3_Non-coding_Transcript|SEMA4G_uc010qpt.1_Nonsense_Mutation_p.W454*|SEMA4G_uc001krx.3_Nonsense_Mutation_p.W454*|MRPL43_uc001kry.1_Intron|MRPL43_uc010qpu.1_Intron	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G (SEMA4G), transcript variant 1, mRNA.	454	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GCTGATGGCTGGATCCACAAG	0.512000														51			8		0	0	0.006214	0	0
HMCN1	83872	broad.mit.edu	37	1	185986189	185986189	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:185986189C>T	uc001grq.1	+	32	5515	c.5286C>T	c.(5284-5286)ccC>ccT	p.P1762P		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1762	Ig-like C2-type 15.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGGCTCTCCCCCACCAACTA	0.393000														56			7		0	0	0.001984	0	0
NUP210	23225	broad.mit.edu	37	3	13401897	13401897	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:13401897G>A	uc003bxv.1	-	14	2110	c.2027C>T	c.(2026-2028)tCc>tTc	p.S676F	NUP210_uc003bxx.3_Missense_Mutation_p.S348F	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	676					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GAAGAATTTGGACGGCTCGAG	0.567000														28			7		0	0	0.003080	0	0
ATP13A5	344905	broad.mit.edu	37	3	193036884	193036884	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:193036884G>A	uc011bsq.2	-	16	1929	c.1929C>T	c.(1927-1929)ttC>ttT	p.F643F		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	643					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.F643L(2)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GTTCCTGTGGGAAATTCTTGG	0.483000														90			35		0	0	0.004878	0	0
GPR112	139378	broad.mit.edu	37	X	135430517	135430517	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:135430517C>T	uc004ezu.1	+	5	4943	c.4652C>T	c.(4651-4653)cCc>cTc	p.P1551L	GPR112_uc010nsb.1_Missense_Mutation_p.P1346L|GPR112_uc010nsc.1_Missense_Mutation_p.P1318L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1551					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTGAAAAGTCCCTGTACAGCC	0.418000														34			9		0	0	0.004482	0	0
abParts	0	broad.mit.edu	37	14	106757778	106757778	+	RNA	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:106757778C>T	uc021ser.1	-	749		c.19600G>A								Parts of antibodies, mostly variable regions.																		TAGGATTTTTCGTCATTCGAA	0.532000														40			11		0	0	0.010729	0	0
MUC3A	4584	broad.mit.edu	37	7	100552043	100552043	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:100552043C>T	uc003uxl.1	+	0	1294	c.494C>T	c.(493-495)tCt>tTt	p.S165F	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCTGTTCCTTCTTCACCATAC	0.458000														502			15		0	0	0.014410	0	0
KRT74	121391	broad.mit.edu	37	12	52963682	52963682	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:52963682G>A	uc001sap.1	-	5	1143	c.1095C>T	c.(1093-1095)atC>atT	p.I365I		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	365	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GGATCCTCTGGATGAGCCGGT	0.592000														42			12		0	0	0.003163	0	0
OR10A5	144124	broad.mit.edu	37	11	6867376	6867376	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:6867376C>T	uc001met.1	+	0	463	c.463C>T	c.(463-465)Cct>Tct	p.P155S		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCCAGGCTTTCCTGTAGCTAC	0.542000														71			11		0	0	0.008291	0	0
FOXP3	50943	broad.mit.edu	37	X	49113391	49113391	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:49113391C>T	uc004dnf.4	-	4	721	c.533G>A	c.(532-534)aGg>aAg	p.R178K	FOXP3_uc011mnb.2_Missense_Mutation_p.R178K|FOXP3_uc011mnc.2_Missense_Mutation_p.R178K|FOXP3_uc004dne.4_Missense_Mutation_p.R143K|FOXP3_uc022bwa.1_Missense_Mutation_p.R128K	NM_014009	NP_054728	Q9BZS1	FOXP3_HUMAN	Homo sapiens forkhead box P3 (FOXP3), transcript variant 1, mRNA.	178					B cell homeostasis|T cell homeostasis|T cell receptor signaling pathway|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of CREB transcription factor activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of T cell anergy|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	DNA bending activity|NF-kappaB binding|NFAT protein binding|chromatin binding|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					CCTGTCCTTCCTGGGTGCACT	0.657000														11			11		0	0	0.013537	0	0
PRRG2	5639	broad.mit.edu	37	19	50086932	50086932	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:50086932C>T	uc002pon.3	+	2	384	c.219C>T	c.(217-219)tcC>tcT	p.S73S	PRRG2_uc010yaz.1_Silent_p.S50S	NM_000951	NP_000942	O14669	TMG2_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 2 (PRRG2), mRNA.	73	Gla.					extracellular region|integral to plasma membrane	calcium ion binding			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		AGAGGTGTTCCTGGGAAGAGG	0.577000														78			29		0	0	0.010818	0	0
EBF3	253738	broad.mit.edu	37	10	131640528	131640528	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:131640528G>A	uc021qav.1	-	12	1256	c.1155C>T	c.(1153-1155)atC>atT	p.I385I	EBF3_uc001lki.2_Silent_p.I399I	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	408					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GCGCCTCGGCGATGTCCGCCG	0.662000														59			9		0	0	0.006214	0	0
PAIP1	10605	broad.mit.edu	37	5	43529889	43529889	+	Splice_Site	SNP	G	A	A	rs149920694		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:43529889G>A	uc003job.3	-	10	1593	c.1346_splice	c.e10+1	p.P449_splice	PAIP1_uc003joa.3_Splice_Site_p.P370_splice|PAIP1_uc003joc.3_Splice_Site_p.P337_splice	NM_006451	NP_899152	Q9H074	PAIP1_HUMAN	Homo sapiens poly(A) binding protein interacting protein 1 (PAIP1), transcript variant 1, mRNA.	449	PABPC1-interacting motif-1 (PAM1).				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	RNA binding|protein binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					AAAACTTACGGATCACCAGCC	0.373000														43			9		0	0	0.008291	0	0
HTT	3064	broad.mit.edu	37	4	3134345	3134345	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:3134345C>T	uc021xkv.1	+	16	2438	c.2293C>T	c.(2293-2295)Cga>Tga	p.R765*		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	765					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CCCACAGGTTCGAGGAGCCAC	0.517000														33			10		0	0	0.008291	0	0
CROT	54677	broad.mit.edu	37	7	86978460	86978460	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:86978460C>T	uc003uiu.3	+	2	321	c.76C>T	c.(76-78)Cct>Tct	p.P26S	CROT_uc003uis.3_Missense_Mutation_p.P26S|CROT_uc003uit.3_Missense_Mutation_p.P26S	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	26					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	ACTGCCTGTTCCTTCACTTGA	0.294000														68			7		0	0	0.003080	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135883819	135883819	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:135883819C>T	uc010fnf.3	+	10	942	c.899_splice	c.e10+1	p.S300_splice	RAB3GAP1_uc002tuj.3_Splice_Site_p.S300_splice|RAB3GAP1_uc010fng.3_Splice_Site_p.S125_splice|RAB3GAP1_uc010fnh.1_Splice_Site	NM_001172435	NP_001165906	Q15042	RB3GP_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic) (RAB3GAP1), transcript variant 1, mRNA.	300						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		GATGTTTATTCGTAAGTATGT	0.294000														39			7		0	0	0.003080	0	0
OR56A3	390083	broad.mit.edu	37	11	5968788	5968788	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:5968788C>T	uc010qzt.2	+	0	212	c.212C>T	c.(211-213)tCc>tTc	p.S71F		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCCTCCTCTCCCTGCTGGAC	0.602000														76			24		0	0	0.002780	0	0
SPERT	220082	broad.mit.edu	37	13	46287544	46287544	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:46287544C>T	uc001van.1	+	2	464	c.384C>T	c.(382-384)ttC>ttT	p.F128F	SPERT_uc001vao.2_Silent_p.F92F	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	128						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		ACGAGATGTTCGTGTTCCAGG	0.632000														44			8		0	0	0.004482	0	0
PTPRT	11122	broad.mit.edu	37	20	40743942	40743942	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:40743942C>T	uc002xkg.3	-	21	3180	c.2996G>A	c.(2995-2997)cGa>cAa	p.R999Q	PTPRT_uc010ggj.3_Missense_Mutation_p.R1018Q|PTPRT_uc010ggi.3_Missense_Mutation_p.R202Q	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	999	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGCCAGTATCGCACACATTT	0.507000														46			15		0	0	0.004007	0	0
ACSM1	116285	broad.mit.edu	37	16	20673121	20673121	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:20673121G>A	uc002dhm.1	-	5	1055	c.987C>T	c.(985-987)ttC>ttT	p.F329F	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.F329F	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	329					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CATACCTGGTGAAATCCTGCT	0.388000														34			6		0	0	0.004482	0	0
CRB1	23418	broad.mit.edu	37	1	197313472	197313472	+	Silent	SNP	T	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:197313472T>G	uc001gtz.3	+	2	923	c.714T>G	c.(712-714)acT>acG	p.T238T	CRB1_uc010poz.2_Silent_p.T169T|CRB1_uc001gty.2_Silent_p.T238T|CRB1_uc009wza.3_Intron|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.T238T|CRB1_uc010ppc.1_Non-coding_Transcript	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	238	EGF-like 6; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATGGTGCAACTTGTCAGGATG	0.448000														136			23		0	0	0.003954	0	0
KCNT2	343450	broad.mit.edu	37	1	196227408	196227408	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:196227408G>A	uc001gtd.1	-	25	3187	c.3127C>T	c.(3127-3129)Ctc>Ttc	p.L1043F	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.L976F|KCNT2_uc001gtf.1_Missense_Mutation_p.L1019F|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc001gth.1_Missense_Mutation_p.L547F	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	1043						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CTCCTGTAGAGGTTCAGTCGC	0.443000														45			19		0	0	0.006122	0	0
MBD3L1	85509	broad.mit.edu	37	19	8953934	8953934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:8953934C>T	uc002mko.2	+	0	666	c.580C>T	c.(580-582)Cgc>Tgc	p.R194C		NM_145208	NP_660209	Q8WWY6	MB3L1_HUMAN	Homo sapiens methyl-CpG binding domain protein 3-like 1 (MBD3L1), mRNA.	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.K193Q(1)		NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						TCCTGAAAAACGCTAAGAAAA	0.423000														17			4		0	0	0.001168	0	0
SPOCD1	90853	broad.mit.edu	37	1	32256610	32256610	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:32256610C>T	uc001bts.1	-	15	3303	c.3245G>A	c.(3244-3246)gGa>gAa	p.G1082E	SPOCD1_uc001btr.1_3'UTR|SPOCD1_uc001btu.3_Missense_Mutation_p.G1069E|SPOCD1_uc001btv.3_Missense_Mutation_p.G562E	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	1082					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AGCAGAGATTCCCCTTGGAGC	0.672000														37			16		0	0	0.004990	0	0
RPH3A	22895	broad.mit.edu	37	12	113314621	113314621	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:113314621C>T	uc010syl.2	+	12	1483	c.1121C>T	c.(1120-1122)cCc>cTc	p.P374L	RPH3A_uc001ttz.3_Missense_Mutation_p.P374L|RPH3A_uc001tty.3_Missense_Mutation_p.P370L|RPH3A_uc009zwe.1_Missense_Mutation_p.P370L|RPH3A_uc010sym.2_Missense_Mutation_p.P325L|RPH3A_uc001tua.3_Missense_Mutation_p.P134L	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	374	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	p.E374E(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CAGCCACCACCCCCAGAGGAG	0.597000														32			5		0	0	0.001168	0	0
CPO	130749	broad.mit.edu	37	2	207833919	207833919	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:207833919G>A	uc002vby.2	+	8	930	c.884G>A	c.(883-885)aGa>aAa	p.R295K		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	Homo sapiens carboxypeptidase O (CPO), mRNA.	295					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		GGGTCTTCAAGAGATTGGGCC	0.458000														75			24		0	0	0.005443	0	0
OR6B3	150681	broad.mit.edu	37	2	240985478	240985478	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:240985478C>T	uc010zoe.2	-	0	12	c.12G>A	c.(10-12)gaG>gaA	p.E4E		NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 3 (OR6B3), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		TGGTGACATTCTCCCCACTCA	0.597000														37			5		0	0	0.000602	0	0
KCNH5	27133	broad.mit.edu	37	14	63175152	63175152	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:63175152C>T	uc001xfx.3	-	10	2092	c.2041G>A	c.(2041-2043)Gat>Aat	p.D681N	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	681					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTCTTCACATCACTGATCTTA	0.463000														43			13		0	0	0.013537	0	0
FAM210A	125228	broad.mit.edu	37	18	13681760	13681760	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr18:13681760G>A	uc010dlh.3	-	2	749	c.317C>T	c.(316-318)cCg>cTg	p.P106L	FAM210A_uc010dlg.3_Missense_Mutation_p.P106L|FAM210A_uc010dli.3_Missense_Mutation_p.P106L|FAM210A_uc002ksj.4_Missense_Mutation_p.P106L|FAM210A_uc010dlj.3_Intron	NM_001098801	NP_689565	Q96ND0	CR019_HUMAN	Homo sapiens family with sequence similarity 210, member A (FAM210A), transcript variant 1, mRNA.	106						integral to membrane											CTTTTTTTCCGGAGTTCCCTG	0.438000														110			25		0	0	0.006320	0	0
GALNT14	79623	broad.mit.edu	37	2	31133827	31133827	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:31133827G>A	uc002rns.3	-	15	2254	c.1614C>T	c.(1612-1614)atC>atT	p.I538I	GALNT14_uc002rnq.3_Silent_p.I513I|GALNT14_uc010ymr.2_Silent_p.I498I|GALNT14_uc002rnr.3_Silent_p.I533I	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	533	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGTTGACGACGATTTCCTTGC	0.557000														53			6		0	0	0.001168	0	0
EGFR	1956	broad.mit.edu	37	7	55240685	55240685	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:55240685C>T	uc003tqk.3	+	16	2175	c.1929C>T	c.(1927-1929)atC>atT	p.I643I	EGFR_uc022adm.1_Silent_p.I643I|EGFR_uc010kzg.2_Silent_p.I598I|EGFR_uc022adn.1_Silent_p.I598I|EGFR_uc011kco.2_Silent_p.I590I	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	643					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.I643V(1)		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)	GGCCTAAGATCCCGTCCATCG	0.607000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				61			4		0	0	0.000602	0	0
MLKL	197259	broad.mit.edu	37	16	74708878	74708878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:74708878G>A	uc002fdb.2	-	9	1802	c.1361C>T	c.(1360-1362)tCt>tTt	p.S454F	MLKL_uc002fdc.2_Missense_Mutation_p.S246F	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA.	454	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						GGGCCGCACAGAGGGATCATG	0.552000														33			4		0	0	0.009096	0	0
PLCB4	5332	broad.mit.edu	37	20	9364892	9364892	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:9364892G>A	uc021wam.1	+	10	913	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	PLCB4_uc010gbw.1_Missense_Mutation_p.E300K|PLCB4_uc010gbx.3_Missense_Mutation_p.E300K|PLCB4_uc021wal.1_Missense_Mutation_p.E300K|PLCB4_uc002wnh.3_Missense_Mutation_p.E147K	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	300					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.D299N(1)		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						GATGTCAGATGAAAACGCCCC	0.413000														64			8		0	0	0.008291	0	0
COL5A2	1290	broad.mit.edu	37	2	189927950	189927950	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:189927950C>T	uc002uqk.3	-	26	2092	c.1817G>A	c.(1816-1818)gGa>gAa	p.G606E	COL5A2_uc010frx.3_Missense_Mutation_p.G182E	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	606					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCCTCTGATTCCTATGGAGCC	0.507000														89			20		0	0	0.008871	0	0
CCDC60	160777	broad.mit.edu	37	12	119978426	119978426	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:119978426G>A	uc001txe.3	+	13	2024	c.1559G>A	c.(1558-1560)cGa>cAa	p.R520Q	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	520								p.R520*(1)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CAGTTTGTGCGAGAACACATC	0.512000														80			8		0	0	0.003080	0	0
SVEP1	79987	broad.mit.edu	37	9	113170131	113170131	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:113170131G>A	uc010mtz.3	-	37	8086	c.7749C>T	c.(7747-7749)ttC>ttT	p.F2583F	SVEP1_uc010mty.3_Silent_p.F509F	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2583	Sushi 20.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAAACCCAGGGAAGCAACTGT	0.488000														66			14		0	0	0.002450	0	0
RRP9	9136	broad.mit.edu	37	3	51969657	51969657	+	Missense_Mutation	SNP	G	A	A	rs140029162	byFrequency	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:51969657G>A	uc003dbw.1	-	8	826	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C		NM_004704	NP_004695	O43818	U3IP2_HUMAN	Homo sapiens ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) (RRP9), mRNA.	263					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		TTCACGGAGCGATCGTGGGAT	0.602000														32			13		0	0	0.002450	0	0
LRP1B	53353	broad.mit.edu	37	2	141819819	141819819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:141819819C>T	uc002tvj.1	-	7	2009	c.1037G>A	c.(1036-1038)gGg>gAg	p.G346E	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	346					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G346W(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGCGACATTCCCGTAGTCAGT	0.443000										TSP Lung(27;0.18)				35			12		0	0	0.013537	0	0
CES1	1066	broad.mit.edu	37	16	55857487	55857487	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:55857487G>A	uc002eim.3	-	3	619	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	CES1_uc002eil.3_Missense_Mutation_p.R172C|CES1_uc002ein.3_Missense_Mutation_p.R171C	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	171					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	ATGCCCAGGCGATATTGAATG	0.572000														51			5		0	0	0.000602	0	0
PUS3	83480	broad.mit.edu	37	11	125766075	125766075	+	Silent	SNP	A	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:125766075A>G	uc001qcy.2	-	1	203	c.105T>C	c.(103-105)aaT>aaC	p.N35N	HYLS1_uc009zbv.3_Intron|HYLS1_uc001qcx.4_Intron	NM_031307	NP_112597	Q9BZE2	PUS3_HUMAN	Homo sapiens pseudouridylate synthase 3 (PUS3), mRNA.	35						nucleus	RNA binding			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		AGTCCTCCTTATTTTTGGCCT	0.423000														92			16		0	0	0.004990	0	0
RRAD	6236	broad.mit.edu	37	16	66956094	66956094	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:66956094C>T	uc002eqn.2	-	4	964	c.812G>A	c.(811-813)cGa>cAa	p.R271Q	RRAD_uc002eqo.2_Missense_Mutation_p.R271Q	NM_001128850	NP_004156	P55042	RAD_HUMAN	Homo sapiens Ras-related associated with diabetes (RRAD), transcript variant 1, mRNA.	271					small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|calmodulin binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		AAGGCTCTCTCGCCTCCGGGT	0.607000														45			4		0	0	0.009096	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10525283	10525283	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:10525283G>A	uc002czw.3	+	1	965	c.806G>A	c.(805-807)tGg>tAg	p.W269*	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Nonsense_Mutation_p.W269*|ATF7IP2_uc002czv.3_Nonsense_Mutation_p.W269*|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						GACTCAACATGGCAGTCATCA	0.328000														30			5		0	0	0.000602	0	0
KCNMB2	10242	broad.mit.edu	37	3	178546140	178546140	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:178546140G>A	uc003fjd.3	+	3	745	c.402G>A	c.(400-402)gaG>gaA	p.E134E	AF279780_uc003fjb.1_Intron|AF279780_uc003fjc.1_Intron|KCNMB2_uc003fje.3_Silent_p.E134E|KCNMB2_uc003fjf.3_Silent_p.E134E|KCNMB2_uc011bqa.2_Intron|KCNMB2_uc011bqb.2_Intron	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 2 (KCNMB2), transcript variant 1, mRNA.	134					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	p.E134A(1)		NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			ACACAGAAGAGACAATAAAAA	0.502000														16			5		0	0	0.001168	0	0
LCN10	414332	broad.mit.edu	37	9	139635770	139635770	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:139635770C>T	uc004civ.3	-	2	360	c.301G>A	c.(301-303)Ggg>Agg	p.G101R	LCN10_uc010nbq.3_Intron|LCN10_uc011mee.2_Missense_Mutation_p.G101R|LCN10_uc011mef.2_Intron|LCN10_uc011med.2_Intron|LCN10_uc004ciw.3_Intron|LCN10_uc022bpt.1_5'Flank	NM_001001712	NP_001001712	Q6JVE6	LCN10_HUMAN	Homo sapiens lipocalin 10 (LCN10), mRNA.	95					transport	extracellular region	binding			breast(2)|cervix(1)|large_intestine(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		GGCTTCTTCCCGTCTTTCCTC	0.682000														28			4		0	0	0.000602	0	0
ITGA4	3676	broad.mit.edu	37	2	182374525	182374525	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:182374525G>A	uc002unu.3	+	15	2599	c.1836G>A	c.(1834-1836)atG>atA	p.M612I	ITGA4_uc010frj.1_Missense_Mutation_p.M94I	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	612					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AAGACATAATGAAAAAAACAG	0.328000														38			6		0	0	0.001168	0	0
TLCD1	116238	broad.mit.edu	37	17	27052510	27052510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:27052510C>T	uc002hco.3	-	1	381	c.266G>A	c.(265-267)tGc>tAc	p.C89Y	TLCD1_uc010waw.2_Missense_Mutation_p.C42Y	NM_138463	NP_612472	Q96CP7	TLCD1_HUMAN	Homo sapiens TLC domain containing 1 (TLCD1), transcript variant 1, mRNA.	89	TLC.					integral to membrane				breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					CGCAGAGAAGCAAACGAGCAA	0.542000														47			20		0	0	0.010504	0	0
EGFL8	80864	broad.mit.edu	37	6	32135728	32135728	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:32135728C>T	uc003oab.1	+	8	984	c.877C>T	c.(877-879)Cga>Tga	p.R293*	EGFL8_uc003nzy.2_Non-coding_Transcript|EGFL8_uc003oac.1_Nonsense_Mutation_p.R293*	NM_030652	NP_085155	Q99944	EGFL8_HUMAN	Homo sapiens EGF-like-domain, multiple 8 (EGFL8), transcript variant 1, mRNA.	293						extracellular region|integral to membrane	calcium ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CGTCAATCATCGATAAGAAGC	0.547000														232			36		0	0	0.004878	0	0
ZFP112	7771	broad.mit.edu	37	19	44891413	44891413	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:44891413G>A	uc010xxa.2	-	3	1058	c.1015C>T	c.(1015-1017)Cac>Tac	p.H339Y	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Missense_Mutation_p.H332Y	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	625					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						TGATGGTTGTGAAGGGAAGAG	0.478000														56			24		0	0	0.003954	0	0
FSTL4	23105	broad.mit.edu	37	5	132736636	132736636	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:132736636T>G	uc003kyn.1	-	3	421	c.203A>C	c.(202-204)aAg>aCg	p.K68T		NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	68						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)			GCTGCAGAACTTCTTCCCGCA	0.627000														41			7		0	0	0.001984	0	0
MMP1	4312	broad.mit.edu	37	11	102662226	102662226	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:102662226C>T	uc001phi.2	-	8	1177	c.1034_splice	c.e8-1	p.G345_splice	LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Splice_Site_p.G279_splice	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	345	Hemopexin-like 2.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GTACTTATTCCCTGCCAATCA	0.433000														76			35		0	0	0.013726	0	0
ZBBX	79740	broad.mit.edu	37	3	167031881	167031881	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:167031881T>G	uc011bpc.2	-	15	1635	c.1298A>C	c.(1297-1299)aAg>aCg	p.K433T	ZBBX_uc003feq.3_Missense_Mutation_p.K404T|ZBBX_uc003fep.3_Missense_Mutation_p.K433T	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	433						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AAAGCTATTCTTCTGACAATC	0.308000														40			9		0	0	0.008291	0	0
CREB3L3	84699	broad.mit.edu	37	19	4159755	4159755	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:4159755C>T	uc002lzl.3	+	3	668	c.552C>T	c.(550-552)ctC>ctT	p.L184L	CREB3L3_uc002lzm.3_Silent_p.L174L|CREB3L3_uc010xib.2_Silent_p.L175L|CREB3L3_uc010xic.2_Silent_p.L175L	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	184					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGACCTCCTCCTTTCGGGCA	0.622000														56			7		0	0	0.003080	0	0
GRM7	2917	broad.mit.edu	37	3	7620939	7620939	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:7620939G>A	uc003bqm.2	+	7	2620	c.2346G>A	c.(2344-2346)gaG>gaA	p.E782E	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.E782E|GRM7_uc003bql.2_Silent_p.E782E|GRM7_uc003bqn.1_Silent_p.E365E|GRM7_uc010hch.1_Silent_p.E293E	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	782					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding	p.P781P(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GTGTACCCGAGAATTTTAACG	0.438000														32			8		0	0	0.004482	0	0
DDX60L	91351	broad.mit.edu	37	4	169341442	169341442	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:169341442T>G	uc021xuh.1	-	16	2594	c.2484A>C	c.(2482-2484)agA>agC	p.R828S	DDX60L_uc003irq.4_Missense_Mutation_p.R828S|DDX60L_uc003irr.1_Missense_Mutation_p.R828S|DDX60L_uc003irs.1_Missense_Mutation_p.R555S	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	828	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GACAATAATCTCTTGTAAAAG	0.368000														15			3		0	0	0.004672	0	0
MRVI1	10335	broad.mit.edu	37	11	10615060	10615060	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:10615060G>A	uc010rcc.1	-	16	2540	c.2154C>T	c.(2152-2154)tcC>tcT	p.S718S	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|MRVI1_uc010rcb.1_Silent_p.S710S|MRVI1_uc001miw.2_Silent_p.S709S|MRVI1_uc001mix.3_Silent_p.S403S|MRVI1_uc001miz.2_Silent_p.S627S|MRVI1_uc010rcd.1_Silent_p.S512S|MRVI1_uc009ygd.1_Silent_p.S403S|MRVI1_uc010rce.1_Non-coding_Transcript	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	691					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		AGGAGGGAATGGATGATGAGC	0.517000														34			16		0	0	0.007413	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644055	20644055	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:20644055G>A	uc001ytg.3	-	22	3424	c.2715C>T	c.(2713-2715)ttC>ttT	p.F905F	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Silent_p.F905F					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CGGAATCAGGGAAGTAGTCCT	0.592000														12			5		0	0	0.001168	0	0
PSD4	23550	broad.mit.edu	37	2	113950850	113950850	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:113950850C>T	uc002tjc.3	+	7	2118	c.1935C>T	c.(1933-1935)gcC>gcT	p.A645A	PSD4_uc002tjd.3_Silent_p.A266A|PSD4_uc002tje.3_Silent_p.A616A|PSD4_uc002tjf.3_Silent_p.A266A	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	645	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCTCCAGGCCTTGGTGCTCA	0.607000														43			4		0	0	0.000602	0	0
MCTP1	79772	broad.mit.edu	37	5	94275830	94275830	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:94275830G>A	uc003kkx.2	-	4	1131	c.1131C>T	c.(1129-1131)ctC>ctT	p.L377L	MCTP1_uc003kkv.2_Silent_p.L156L|MCTP1_uc003kkw.2_Silent_p.L156L|MCTP1_uc003kkz.2_Silent_p.L38L	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	377					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GGATGACTGAGAGCAAAATGA	0.433000														115			45		0	0	0.014410	0	0
ENPEP	2028	broad.mit.edu	37	4	111431408	111431408	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:111431408G>A	uc003iab.4	+	5	1544	c.1202G>A	c.(1201-1203)gGa>gAa	p.G401E		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	401					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CAGTGGTTTGGAAATATTGTG	0.378000														31			13		0	0	0.002450	0	0
PRKG1	5592	broad.mit.edu	37	10	54042050	54042050	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:54042050C>T	uc001jjm.3	+	13	1866	c.1638C>T	c.(1636-1638)atC>atT	p.I546I	PRKG1_uc001jjo.3_Silent_p.I561I|PRKG1_uc009xow.2_Silent_p.I264I|LOC100506939_uc021pqu.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	546	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)		CACTGGGAATCCTAATGTATG	0.453000														15			7		0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179547564	179547564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:179547564C>T	uc021vsy.1	-	131	29447	c.29222G>A	c.(29221-29223)cGg>cAg	p.R9741Q	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R6402Q|TTN_uc010fre.1_Missense_Mutation_p.R588Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10668	Ig-like 78.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R9741Q(1)|p.R9741L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTTCTTCCCGTTGTACTGA	0.353000														49			7		0	0	0.001984	0	0
SLC35F5	80255	broad.mit.edu	37	2	114500402	114500402	+	Missense_Mutation	SNP	G	C	C	rs149790536		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:114500402G>C	uc002tku.1	-	6	1031	c.617C>G	c.(616-618)cCg>cGg	p.P206R	SLC35F5_uc002tkt.3_Non-coding_Transcript|SLC35F5_uc002tkv.3_Missense_Mutation_p.P200R	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA.	206					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						ATGACTTGACGGAAGCTGTCG	0.393000														46			9		0	0	0.004482	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51645996	51645996	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:51645996C>T	uc002pvv.1	+	0	439	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C	SIGLEC7_uc002pvw.1_Missense_Mutation_p.R124C|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_Missense_Mutation_p.R124C	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	124					cell adhesion	integral to plasma membrane	receptor activity|sugar binding	p.R124C(2)|p.R124H(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		ATACTTCTTTCGTATGGAGAA	0.478000														51			9		0	0	0.004482	0	0
LRRK2	120892	broad.mit.edu	37	12	40702473	40702473	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:40702473C>T	uc001rmg.4	+	28	4285	c.4164C>T	c.(4162-4164)ctC>ctT	p.L1388L	LRRK2_uc009zjw.3_Silent_p.L226L|LRRK2_uc001rmi.3_Silent_p.L221L	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1388	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.L1388L(3)		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)				AGAGAGATCTCGTCCTAAATG	0.358000														22			4		0	0	0.009096	0	0
SLC15A1	6564	broad.mit.edu	37	13	99364143	99364143	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:99364143G>A	uc001vno.3	-	10	942	c.865C>T	c.(865-867)Cca>Tca	p.P289S		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	289					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	ATTGGGAGTGGAATATACAGG	0.517000														66			10		0	0	0.013537	0	0
DRD1	1812	broad.mit.edu	37	5	174868996	174868996	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:174868996C>T	uc003mcz.3	-	1	2052	c.1107G>A	c.(1105-1107)gcG>gcA	p.A369A	DRD1_uc021yia.1_Silent_p.A369A	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	369					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	TGGAAAACATCGCGGCCCCAT	0.498000														101			14		0	0	0.002450	0	0
NPC1L1	29881	broad.mit.edu	37	7	44561362	44561362	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:44561362G>A	uc003tlb.3	-	11	2958	c.2902C>T	c.(2902-2904)Cgc>Tgc	p.R968C	NPC1L1_uc011kbw.2_Missense_Mutation_p.R922C|NPC1L1_uc003tlc.3_Missense_Mutation_p.R968C|NPC1L1_uc003tla.3_5'Flank	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	968					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ATATAAAGGCGGCAGCAGGAG	0.597000														60			6		0	0	0.001168	0	0
CCP110	9738	broad.mit.edu	37	16	19547897	19547897	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:19547897C>T	uc002dgl.4	+	3	1153	c.906C>T	c.(904-906)ctC>ctT	p.L302L	CCP110_uc002dgk.4_Silent_p.L302L	NM_001199022	NP_001185951	O43303	CP110_HUMAN	Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA.	302					G2/M transition of mitotic cell cycle|centriole replication|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						ATGTTCTTCTCCAAGGTGCTT	0.438000														37			11		0	0	0.001855	0	0
NUP210L	91181	broad.mit.edu	37	1	154031059	154031059	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:154031059C>T	uc001fdw.3	-	20	3033	c.2961G>A	c.(2959-2961)gaG>gaA	p.E987E	NUP210L_uc009woq.3_Intron|NUP210L_uc010peh.2_Silent_p.E987E	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	987						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TCAGATCAAGCTCCAGCTCTT	0.418000														45			8		0	0	0.006214	0	0
LRRC66	339977	broad.mit.edu	37	4	52860739	52860739	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:52860739C>T	uc003gzi.3	-	3	2456	c.2449G>A	c.(2449-2451)Gag>Aag	p.E817K		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	817						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CCCGGAAACTCATCCCCTAAG	0.473000														42			7		0	0	0.004482	0	0
EPHA4	2043	broad.mit.edu	37	2	222428586	222428586	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:222428586G>A	uc002vmq.3	-	2	730	c.688C>T	c.(688-690)Cga>Tga	p.R230*	EPHA4_uc002vmr.2_Nonsense_Mutation_p.R230*|EPHA4_uc010zlm.1_Nonsense_Mutation_p.R171*	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	230	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CAGGAGCCTCGAACTTCCACC	0.502000														72			11		0	0	0.010729	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4455771	4455771	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:4455771G>A	uc002fxz.4	-	5	774	c.712C>T	c.(712-714)Cta>Tta	p.L238L	MYBBP1A_uc002fyb.4_Silent_p.L238L	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	238	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TCTGAGAATAGGTTCACGGAT	0.557000														42			12		0	0	0.002450	0	0
PCSK1	5122	broad.mit.edu	37	5	95735866	95735866	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:95735866C>A	uc003kls.2	-	9	1460	c.1221G>T	c.(1219-1221)atG>atT	p.M407I	PCSK1_uc010jbi.2_Missense_Mutation_p.M97I|PCSK1_uc021ybq.1_Missense_Mutation_p.M360I	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	407	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCAGGTGCTGCATATCTCGCC	0.473000														62			14		2.31682e-05	2.43995e-05	0.003163	1	0
ZFP2	80108	broad.mit.edu	37	5	178359314	178359314	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:178359314G>A	uc003mjn.1	+	4	1509	c.1000G>A	c.(1000-1002)Gct>Act	p.A334T	ZFP2_uc010jky.2_Missense_Mutation_p.A334T|ZFP2_uc010jkx.1_Missense_Mutation_p.A334T|ZFP2_uc021yjb.1_Missense_Mutation_p.A334T	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	Homo sapiens zinc finger protein 2 homolog (mouse) (ZFP2), mRNA.	334					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)		GTGTGGAAAAGCTTTCAGTAA	0.378000														21			10		0	0	0.006214	0	0
FAM71D	161142	broad.mit.edu	37	14	67671581	67671581	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:67671581G>A	uc001xja.2	+	4	977	c.687G>A	c.(685-687)agG>agA	p.R229R	FAM71D_uc010aqn.2_Non-coding_Transcript	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	Homo sapiens family with sequence similarity 71, member D (FAM71D), mRNA.	229										breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		AACATGTCAGGGACAGCATAG	0.507000														51			9		0	0	0.006214	0	0
CFI	3426	broad.mit.edu	37	4	110667386	110667386	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:110667386C>T	uc011cft.2	-	11	1653	c.1445G>A	c.(1444-1446)cGa>cAa	p.R482Q	CFI_uc003hzq.3_Missense_Mutation_p.R271Q|CFI_uc003hzr.4_Missense_Mutation_p.R474Q	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	474	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		ACCTTTTTCTCGTCCCCAGCC	0.418000														24			12		0	0	0.010729	0	0
KIF13B	23303	broad.mit.edu	37	8	29043814	29043814	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:29043814G>A	uc003xhh.4	-	5	551	c.492C>T	c.(490-492)ccC>ccT	p.P164P	KIF13B_uc003xhj.2_Silent_p.P61P|KIF13B_uc010lvf.1_Silent_p.P100P	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	164	Kinesin-motor.				T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TTTACCCTTTGGGATCAAGAA	0.343000														106			28		0	0	0.009535	0	0
PTPN14	5784	broad.mit.edu	37	1	214557398	214557398	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:214557398C>T	uc001hkk.2	-	12	2453	c.1800G>A	c.(1798-1800)cgG>cgA	p.R600R	PTPN14_uc021piy.1_Silent_p.R364R|PTPN14_uc010pty.2_Silent_p.R501R	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	600					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GCTGCACCTTCCGGGTCACCA	0.672000														41			9		0	0	0.004482	0	0
PDPK1	5170	broad.mit.edu	37	16	2607941	2607941	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:2607941C>T	uc002cqs.3	+	1	406	c.262C>T	c.(262-264)Ctt>Ttt	p.L88F	PDPK1_uc002cqt.3_Missense_Mutation_p.L88F|PDPK1_uc010bsn.3_Missense_Mutation_p.L88F|PDPK1_uc002cqu.3_Missense_Mutation_p.L61F|PDPK1_uc002cqv.1_Missense_Mutation_p.L61F|PDPK1_uc010uwe.1_Missense_Mutation_p.L88F	NM_002613	NP_002604	O15530	PDPK1_HUMAN	Homo sapiens 3-phosphoinositide dependent protein kinase-1 (PDPK1), transcript variant 1, mRNA.	88	Protein kinase.				T cell costimulation|T cell receptor signaling pathway|actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	TGGGAAAATCCTTGGGGAAGG	0.617000														57			7		0	0	0.001984	0	0
TAB2	23118	broad.mit.edu	37	6	149700528	149700528	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:149700528C>T	uc003qmj.3	+	2	1655	c.1477C>T	c.(1477-1479)Cat>Tat	p.H493Y	TAB2_uc011eec.2_Missense_Mutation_p.H461Y|TAB2_uc010kia.1_Missense_Mutation_p.H493Y|TAB2_uc010kib.2_Missense_Mutation_p.H493Y|TAB2_uc003qmk.4_Non-coding_Transcript	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 2 (TAB2), mRNA.	493					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|heart development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						TCTTCTTAATCATCCTGATCA	0.423000														42			15		0	0	0.002450	0	0
DCLK1	9201	broad.mit.edu	37	13	36382405	36382405	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:36382405C>T	uc001uvf.3	-	13	2102	c.1819G>A	c.(1819-1821)Gac>Aac	p.D607N	MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Missense_Mutation_p.D300N|DCLK1_uc010teh.2_Missense_Mutation_p.D300N|DCLK1_uc010abk.3_Missense_Mutation_p.D127N	NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	607	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GAAGGAAAGTCCACCTGCCCC	0.428000														120			15		0	0	0.010504	0	0
SLC35G5	83650	broad.mit.edu	37	8	11188858	11188858	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:11188858C>T	uc003wtp.1	+	0	364	c.243C>T	c.(241-243)ctC>ctT	p.L81L		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	Homo sapiens solute carrier family 35, member G5 (SLC35G5), mRNA.	81	DUF6 1.					integral to membrane											TCTTCCACCTCCCTATTGCCC	0.617000														148			28		0	0	0.010818	0	0
RBM6	10180	broad.mit.edu	37	3	50005945	50005945	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:50005945C>T	uc003cyc.3	+	2	1335	c.1087C>T	c.(1087-1089)Cca>Tca	p.P363S	RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_Intron|RBM6_uc003cyd.3_Intron|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	363					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CAGCCAAAGTCCAGTTCAAGA	0.458000														42			4		0	0	0.009096	0	0
SLC6A9	6536	broad.mit.edu	37	1	44463570	44463570	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:44463570G>A	uc001cll.3	-	12	2075	c.1883C>T	c.(1882-1884)gCc>gTc	p.A628V	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|SLC6A9_uc001clm.3_Missense_Mutation_p.A574V|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Missense_Mutation_p.A559V|SLC6A9_uc010oko.2_Missense_Mutation_p.A444V|SLC6A9_uc001cln.3_Missense_Mutation_p.A555V	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	628						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CCGGAACATGGCGTAGAGGGG	0.642000														33			8		0	0	0.004482	0	0
CNKSR2	22866	broad.mit.edu	37	X	21450848	21450848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:21450848C>T	uc004czx.2	+	2	827	c.347C>T	c.(346-348)aCc>aTc	p.T116I	CNKSR2_uc004czw.3_Missense_Mutation_p.T116I|CNKSR2_uc011mjn.2_Missense_Mutation_p.T116I|CNKSR2_uc011mjo.2_Missense_Mutation_p.T116I	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	116	CRIC.				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						GATGGGAGGACCAGCCGAAAA	0.448000														75			15		0	0	0.003163	0	0
CHRNA3	1136	broad.mit.edu	37	15	78893897	78893897	+	Missense_Mutation	SNP	C	T	T	rs140801923		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:78893897C>T	uc002bec.3	-	4	1588	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	CHRNA3_uc002beb.3_Missense_Mutation_p.E363K|CHRNA3_uc002bea.3_Non-coding_Transcript	NM_000743	NP_000734	P32297	ACHA3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 3 (CHRNA3), transcript variant 1, mRNA.	363					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCGTTGCCCTCGTTGCTTGTT	0.572000														38			17		0	0	0.004007	0	0
PCDHB17	54661	broad.mit.edu	37	5	140537184	140537185	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:140537184_140537185CC>TT	uc003lis.3	+	0	1605_1606	c.1605_1606CC>TT	c.(1603-1608)gaccgc>gaTTgc	p.R536C						Homo sapiens protocadherin beta 17 pseudogene (PCDHB17), non-coding RNA.																		GCGCCTCAGACCGCGGTTCTCC	0.653000														41			18		0	0	0.004672	0	0
SERPINB7	8710	broad.mit.edu	37	18	61468108	61468108	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr18:61468108G>A	uc002ljl.3	+	6	702	c.606G>A	c.(604-606)ggG>ggA	p.G202G	SERPINB7_uc002ljm.3_Silent_p.G202G|SERPINB7_uc010xet.2_Silent_p.G185G|SERPINB7_uc010dqg.3_Silent_p.G202G	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	202					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AGTGCTCTGGGAAGGCAGTCG	0.363000														49			5		0	0	0.000602	0	0
THOC5	8563	broad.mit.edu	37	22	29924434	29924434	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr22:29924434G>A	uc003afr.3	-	10	1282	c.947C>T	c.(946-948)gCc>gTc	p.A316V	THOC5_uc003afq.3_5'UTR|THOC5_uc003afs.3_Missense_Mutation_p.A316V|THOC5_uc003aft.3_Missense_Mutation_p.A316V|THOC5_uc003afu.3_Missense_Mutation_p.A316V	NM_001002878	NP_003669	Q13769	THOC5_HUMAN	Homo sapiens THO complex 5 (THOC5), transcript variant 1, mRNA.	316					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing|monocyte differentiation|primitive hemopoiesis	THO complex part of transcription export complex|cytoplasm|intermediate filament cytoskeleton	RNA binding|protein binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTCCTCCTCGGCATCTGAGTC	0.567000														62			27		0	0	0.009535	0	0
SCN9A	6335	broad.mit.edu	37	2	167056335	167056335	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:167056335G>A	uc010fpl.3	-	26	5122	c.4781C>T	c.(4780-4782)tCc>tTc	p.S1594F	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1605						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)	CAGGGTAGGGGACACAAAATA	0.418000														80			6		0	0	0.003080	0	0
BAG4	9530	broad.mit.edu	37	8	38067591	38067591	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:38067591C>T	uc003xky.2	+	4	1236	c.954C>T	c.(952-954)gtC>gtT	p.V318V	BAG4_uc003xkz.2_Silent_p.V282V	NM_004874	NP_004865	O95429	BAG4_HUMAN	Homo sapiens BCL2-associated athanogene 4 (BAG4), transcript variant 1, mRNA.	318					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				CTTGCAGTGTCCATCAGTACG	0.463000														71			12		0	0	0.013537	0	0
LDB2	9079	broad.mit.edu	37	4	16760876	16760876	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:16760876T>G	uc003goz.3	-	1	456	c.140A>C	c.(139-141)gAc>gCc	p.D47A	LDB2_uc003gpa.3_Missense_Mutation_p.D47A|LDB2_uc011bxh.2_Missense_Mutation_p.D47A|LDB2_uc003gpb.3_Missense_Mutation_p.D47A|LDB2_uc010iee.3_Missense_Mutation_p.D47A	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	47							LIM domain binding|transcription cofactor activity	p.S46R(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CCAGAGGTTGTCACTATCCTG	0.408000														25			6		0	0	0.001984	0	0
GPR141	353345	broad.mit.edu	37	7	37780105	37780105	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:37780105C>T	uc003tfm.1	+	0	110	c.110C>T	c.(109-111)tCc>tTc	p.S37F	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	37						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGTGTCATTTCCATTCTTTTC	0.498000														65			13		0	0	0.013537	0	0
MYO18B	84700	broad.mit.edu	37	22	26294333	26294333	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr22:26294333G>A	uc003abz.1	+	28	4978	c.4728G>A	c.(4726-4728)agG>agA	p.R1576R	MYO18B_uc003aca.1_Silent_p.R1457R|MYO18B_uc010guy.1_Silent_p.R1458R|MYO18B_uc010guz.1_Silent_p.R1456R|MYO18B_uc011aka.1_Silent_p.R730R|MYO18B_uc011akb.1_Silent_p.R1089R	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1576	Tail.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AACTGAAGAGGAAGTGCCACC	0.493000														47			9		0	0	0.004482	0	0
HIST1H2BM	8342	broad.mit.edu	37	6	27782846	27782846	+	Missense_Mutation	SNP	C	T	T	rs141452609	byFrequency	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:27782846C>T	uc003njo.3	+	0	25	c.25C>T	c.(25-27)Cca>Tca	p.P9S	HIST1H2AJ_uc003njn.1_5'Flank	NM_003521	NP_003512	Q99879	H2B1M_HUMAN	Homo sapiens histone cluster 1, H2bm (HIST1H2BM), mRNA.	9					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						CAAATCTGCTCCAGTCCCTAA	0.428000														51			5		0	0	0.001984	0	0
FRY	10129	broad.mit.edu	37	13	32826065	32826065	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:32826065A>C	uc001utx.3	+	49	7717	c.7221A>C	c.(7219-7221)gaA>gaC	p.E2407D	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GTGGCCAAGAAGTAGGATTGA	0.388000														63			4		0	0	0.009096	0	0
MYH2	4620	broad.mit.edu	37	17	10436891	10436891	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:10436891C>T	uc010coi.3	-	19	2367	c.2239G>A	c.(2239-2241)Gcc>Acc	p.A747T	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.A747T|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	747	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTCTCAGAGGCCTTCTTGCTA	0.398000														55			11		0	0	0.008291	0	0
AK301679	0	broad.mit.edu	37	17	18343596	18343596	+	RNA	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:18343596G>A	uc010vya.1	+	0		c.375G>A								Homo sapiens cDNA FLJ56791 complete cds, highly similar to Keratin, type I cytoskeletal 16.																		ggtggcttgggtgctggcttg	0.632000														4			7		0	0	0.003080	0	0
IFNA14	3448	broad.mit.edu	37	9	21239911	21239911	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:21239911C>T	uc010mis.3	-	0	68	c.24G>A	c.(22-24)atG>atA	p.M8I	IFNA14_uc003zoo.1_Non-coding_Transcript	NM_002172	NP_002163	P01570	IFN14_HUMAN	Homo sapiens interferon, alpha 14 (IFNA14), mRNA.	8					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCAGGGCCATCATTAAAGCAA	0.512000														52			11		0	0	0.013537	0	0
CLYBL	171425	broad.mit.edu	37	13	100517114	100517114	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:100517114C>T	uc001vok.3	+	4	614	c.583C>T	c.(583-585)Ctc>Ttc	p.L195F	CLYBL_uc010tix.2_Missense_Mutation_p.L195F|CLYBL_uc010tiy.2_Missense_Mutation_p.L161F	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	Homo sapiens citrate lyase beta like (CLYBL), mRNA.	195					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCAAGTAGGTCTCTTTCTAGA	0.473000														75			9		0	0	0.006214	0	0
C4orf50	389197	broad.mit.edu	37	4	5966754	5966754	+	RNA	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:5966754C>T	uc003git.2	-	5		c.1874G>A						Q6ZRC1	CD050_HUMAN	Homo sapiens cDNA FLJ46481 fis, clone THYMU3025772.											breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TTCTCACCTTCAGAGAATCCA	0.463000														49			5		0	0	0.000602	0	0
CD163	9332	broad.mit.edu	37	12	7635262	7635262	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:7635262C>T	uc001qsz.3	-	13	3352	c.3224G>A	c.(3223-3225)cGa>cAa	p.R1075Q	CD163_uc001qta.3_Missense_Mutation_p.R1075Q|CD163_uc009zfw.2_Missense_Mutation_p.R1108Q	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1075					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.R1075Q(2)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TCTCTGTCTTCGCTTTTTAGT	0.433000														110			15		0	0	0.006122	0	0
ACOXL	55289	broad.mit.edu	37	2	111562933	111562933	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:111562933G>A	uc010yxk.1	+	8	938	c.714G>A	c.(712-714)tcG>tcA	p.S238S	ACOXL_uc021vmm.1_Silent_p.S61S|ACOXL_uc021vmn.1_Silent_p.S61S	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	238					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TGACCCCTTCGAGATTAGCTG	0.463000														81			6		0	0	0.001168	0	0
TDRD1	56165	broad.mit.edu	37	10	115963294	115963294	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:115963294G>A	uc001lbg.1	+	7	1102	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	TDRD1_uc001lbf.3_Missense_Mutation_p.E308K|TDRD1_uc001lbh.1_Missense_Mutation_p.E308K|TDRD1_uc001lbi.1_Missense_Mutation_p.E308K|TDRD1_uc010qsc.2_Missense_Mutation_p.E26K|TDRD1_uc001lbj.3_Missense_Mutation_p.E26K	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	317	Tudor 1.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGTTAAGGGGGAAGTTTGTAT	0.348000														35			9		0	0	0.008291	0	0
CNGA2	1260	broad.mit.edu	37	X	150911672	150911672	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:150911672C>T	uc004fey.1	+	6	921	c.697C>T	c.(697-699)Ctg>Ttg	p.L233L		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	233					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CCCCACTGACCTGATCTATTT	0.542000														17			4		0	0	0.000602	0	0
PEG3	5178	broad.mit.edu	37	19	57326527	57326527	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:57326527C>T	uc002qnu.2	-	6	3634	c.3283G>A	c.(3283-3285)Gaa>Aaa	p.E1095K	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E1066K|PEG3_uc002qnv.2_Missense_Mutation_p.E1095K|PEG3_uc002qnw.2_Missense_Mutation_p.E971K|PEG3_uc002qnx.2_Missense_Mutation_p.E969K|PEG3_uc010etr.2_Missense_Mutation_p.E1095K	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1095					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGAGGGTCTTCCATGTCTGAG	0.512000														85			10		0	0	0.008291	0	0
LRRN2	10446	broad.mit.edu	37	1	204588034	204588034	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:204588034C>T	uc021phy.1	-	0	1087	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.E363K|LRRN2_uc001hbf.1_Missense_Mutation_p.E363K|LRRN2_uc009xbf.1_Missense_Mutation_p.E363K|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	363					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AGACCTACCTCCTGCAGGTTG	0.632000														55			5		0	0	0.000602	0	0
ERAP2	64167	broad.mit.edu	37	5	96248423	96248423	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:96248423G>A	uc003kmq.3	+	15	3147	c.2437G>A	c.(2437-2439)Gaa>Aaa	p.E813K	ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Missense_Mutation_p.E813K|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Missense_Mutation_p.E762K|ERAP2_uc003kmu.3_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA.	813					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		AGAGCAATATGAACTGTCAAT	0.343000														28			17		0	0	0.004007	0	0
NT5DC3	51559	broad.mit.edu	37	12	104174101	104174101	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:104174101C>T	uc010swe.1	-	12	1412	c.1371G>A	c.(1369-1371)tgG>tgA	p.W457*		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	Homo sapiens 5'-nucleotidase domain containing 3 (NT5DC3), mRNA.	457							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						TTTCCTTTTTCCACTCCTGCA	0.473000														68			10		0	0	0.013537	0	0
MMRN1	22915	broad.mit.edu	37	4	90856667	90856667	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:90856667G>A	uc003hst.3	+	5	1907	c.1836G>A	c.(1834-1836)gaG>gaA	p.E612E	MMRN1_uc010iku.3_Intron|MMRN1_uc011cds.2_Silent_p.E354E	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	612					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ACACAGAAGAGAATTTACATG	0.338000														38			19		0	0	0.007413	0	0
HPX	3263	broad.mit.edu	37	11	6453013	6453013	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:6453013G>A	uc001mdg.2	-	8	1048	c.987C>T	c.(985-987)ttC>ttT	p.F329F	HPX_uc009yfc.2_Non-coding_Transcript	NM_000613	NP_000604	P02790	HEMO_HUMAN	Homo sapiens hemopexin (HPX), mRNA.	329	Hemopexin-like 5.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CCTTTGTCAGGAAGACATATA	0.517000														97			14		0	0	0.001855	0	0
ZMYND8	23613	broad.mit.edu	37	20	45853154	45853154	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:45853154G>A	uc010zxy.1	-	18	3175	c.3093C>T	c.(3091-3093)atC>atT	p.I1031I	ZMYND8_uc010ghq.1_Silent_p.I635I|ZMYND8_uc010ghr.1_Silent_p.I906I|ZMYND8_uc002xst.1_Silent_p.I886I|ZMYND8_uc002xsu.1_Silent_p.I877I|ZMYND8_uc002xsv.1_Silent_p.I932I|ZMYND8_uc002xsw.1_Silent_p.I710I|ZMYND8_uc002xsx.1_Silent_p.I710I|ZMYND8_uc002xsy.1_Silent_p.I933I|ZMYND8_uc002xsz.1_Silent_p.I895I|ZMYND8_uc002xta.1_Silent_p.I1004I|ZMYND8_uc002xtb.1_Silent_p.I978I|ZMYND8_uc002xss.2_Silent_p.I1004I|ZMYND8_uc010zxz.1_Silent_p.I872I|ZMYND8_uc002xtc.1_Silent_p.I978I|ZMYND8_uc002xtd.1_Silent_p.I953I|ZMYND8_uc002xte.1_Silent_p.I958I|ZMYND8_uc010zya.1_Silent_p.I1004I|ZMYND8_uc002xtf.1_Silent_p.I1024I|ZMYND8_uc002xsr.1_Silent_p.I103I	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	1004							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)			TCACCTCGGCGATGAGCCGGT	0.612000														100			33		0	0	0.012213	0	0
FLG2	388698	broad.mit.edu	37	1	152329471	152329471	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:152329471C>T	uc001ezw.4	-	2	864	c.791G>A	c.(790-792)gGg>gAg	p.G264E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	264	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACAGCTAGACCCAAGCTTTTG	0.458000														76			22		0	0	0.010504	0	0
USP34	9736	broad.mit.edu	37	2	61441800	61441800	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:61441800G>A	uc002sbe.3	-	67	8099	c.8077C>T	c.(8077-8079)Cca>Tca	p.P2693S		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	2693					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GAATTGCTTGGTATAAGGGAC	0.413000														45			5		0	0	0.000602	0	0
FAM47A	158724	broad.mit.edu	37	X	34148949	34148949	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:34148949G>A	uc004ddg.3	-	0	1499	c.1447C>T	c.(1447-1449)Ccc>Tcc	p.P483S		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	483								p.P483P(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CGTGTCTTGGGATGTTCCGGG	0.617000														40			5		0	0	0.000602	0	0
ADAM2	2515	broad.mit.edu	37	8	39634660	39634660	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:39634660C>T	uc003xnj.3	-	10	987	c.912G>A	c.(910-912)ctG>ctA	p.L304L	ADAM2_uc003xnk.3_Silent_p.L285L|ADAM2_uc011lck.2_Silent_p.L304L|ADAM2_uc003xnl.3_Silent_p.L178L	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	304	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CAAGTGATTCCAGACTTATGG	0.368000														32			6		0	0	0.001168	0	0
FLG	2312	broad.mit.edu	37	1	152281969	152281969	+	Missense_Mutation	SNP	C	T	T	rs141235242		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:152281969C>T	uc001ezu.1	-	2	5429	c.5393G>A	c.(5392-5394)cGa>cAa	p.R1798Q		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1798	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGCTGTCTCGTGCCTGCTC	0.597000									Ichthyosis					282			50		0	0	0.014410	0	0
TMEM66	51669	broad.mit.edu	37	8	29927356	29927356	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:29927356C>T	uc003xhs.3	-	2	686	c.502G>A	c.(502-504)Gcg>Acg	p.A168T	MIR548O2_uc022atm.1_Intron|TMEM66_uc003xhv.3_5'UTR	NM_016127	NP_057211	Q96BY9	TMM66_HUMAN	Homo sapiens transmembrane protein 66 (TMEM66), mRNA.	168						integral to membrane		p.S167S(1)		endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		CAGGAATCCGCCGAGGACCAC	0.443000														58			5		0	0	0.001984	0	0
GCN1L1	10985	broad.mit.edu	37	12	120575528	120575528	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:120575528T>G	uc001txo.3	-	48	6497	c.6484A>C	c.(6484-6486)Agc>Cgc	p.S2162R		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	2162					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCTCAGGGCTGCGGGTGGCC	0.582000														24			8		0	0	0.003080	0	0
HMSD	284293	broad.mit.edu	37	18	61621780	61621780	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr18:61621780G>A	uc010dqj.3	+	2	360	c.211G>A	c.(211-213)Gat>Aat	p.D71N		NM_001123366	NP_001116838	A8MTL9	HMSD_HUMAN	Homo sapiens histocompatibility (minor) serpin domain containing (HMSD), mRNA.	71						extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						AAAGTCTTATGATTTCCTCAC	0.388000														32			11		0	0	0.010729	0	0
BRD4	23476	broad.mit.edu	37	19	15350007	15350008	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:15350007_15350008GG>AA	uc002nar.3	-	17	3866_3867	c.3644_3645CC>TT	c.(3643-3645)tcc>tTT	p.S1215F		NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	1215					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			ACTTGGCTGTGGAGGAGGGGGT	0.629000			T	C15orf55	lethal midline carcinoma of young people									21			4		0	0	0.004672	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51647767	51647767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:51647767C>T	uc002pvv.1	+	1	607	c.538C>T	c.(538-540)Cct>Tct	p.P180S	SIGLEC7_uc002pvw.1_Intron|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	180	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GGGGACGCCCCCTATGATCTC	0.652000														105			19		0	0	0.008871	0	0
KRT38	8687	broad.mit.edu	37	17	39594742	39594742	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:39594742C>T	uc002hwq.1	-	5	1443	c.1020_splice	c.e5+1	p.L340_splice		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	340	Coil 2.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				AGGACACGTACCAAGGTGTGC	0.567000														36			11		0	0	0.002450	0	0
C10orf120	399814	broad.mit.edu	37	10	124457698	124457698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:124457698C>T	uc001lgn.3	-	2	591	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	187										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GTAAACCTTTCAATGTAGGGT	0.473000														55			8		0	0	0.006214	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64133290	64133290	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:64133290G>A	uc003dmf.3	-	6	1462	c.876C>T	c.(874-876)ctC>ctT	p.L292L		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	292	LIM zinc-binding 3.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GCCGCCCCAGGAGGGATTTCT	0.542000														57			24		0	0	0.004656	0	0
TC2N	123036	broad.mit.edu	37	14	92265364	92265364	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:92265364C>T	uc001xzu.4	-	5	797	c.606G>A	c.(604-606)agG>agA	p.R202R	TC2N_uc001xzt.4_Silent_p.R202R|TC2N_uc010auc.3_Silent_p.R202R|TC2N_uc001xzv.4_Silent_p.R202R	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	202						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GAGAATTTTTCCTTGAAGAAG	0.323000														42			16		0	0	0.007413	0	0
LPIN1	23175	broad.mit.edu	37	2	11922584	11922584	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:11922584C>T	uc010yjm.2	+	8	1415	c.1362C>T	c.(1360-1362)gcC>gcT	p.A454A	LPIN1_uc010yjn.2_Silent_p.A369A|LPIN1_uc002rbt.3_Silent_p.A369A|LPIN1_uc002rbs.3_Silent_p.A405A	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	369					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CCCCCTCTGCCAGTGTAGTCC	0.517000														40			13		0	0	0.006122	0	0
OR10G7	390265	broad.mit.edu	37	11	123909220	123909220	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:123909220G>A	uc001pzq.1	-	0	489	c.489C>T	c.(487-489)ttC>ttT	p.F163F		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F163Y(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGGGCAAATGGAAAGTCAATA	0.577000														134			6		0	0	0.013537	0	0
SLMAP	7871	broad.mit.edu	37	3	57893673	57893673	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:57893673G>A	uc003dje.1	+	15	1718	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	SLMAP_uc003djd.1_Missense_Mutation_p.E488K|SLMAP_uc003djf.1_Missense_Mutation_p.E467K|SLMAP_uc003djg.1_Missense_Mutation_p.E99K|SLMAP_uc011bez.1_Intron|SLMAP_uc011bfa.1_Missense_Mutation_p.E39K|SLMAP_uc003djh.3_Intron|SLMAP_uc003dji.1_Missense_Mutation_p.E39K|SLMAP_uc011bfb.1_Missense_Mutation_p.E39K|SLMAP_uc011bfc.1_Intron	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	Homo sapiens sarcolemma associated protein (SLMAP), mRNA.	505					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		TCTTCGAAAGGAATTGATCGA	0.383000														16			13		0	0	0.002450	0	0
MAPK13	5603	broad.mit.edu	37	6	36106539	36106539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:36106539C>T	uc003ols.3	+	9	921	c.823C>T	c.(823-825)Cca>Tca	p.P275S	MAPK13_uc003olt.3_Non-coding_Transcript	NM_002754	NP_002745	O15264	MK13_HUMAN	Homo sapiens mitogen-activated protein kinase 13 (MAPK13), mRNA.	275	Protein kinase.				Ras protein signal transduction|cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						TCAGCTGTTCCCACGGGCCAG	0.627000														33			6		0	0	0.001984	0	0
TNN	63923	broad.mit.edu	37	1	175105027	175105027	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:175105027G>A	uc001gkl.1	+	15	3490	c.3377G>A	c.(3376-3378)tGg>tAg	p.W1126*		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1126	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.W1126*(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TTCAAGCGATGGAGGAGCTAT	0.537000														81			13		0	0	0.002450	0	0
DHX30	22907	broad.mit.edu	37	3	47859547	47859547	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:47859547C>T	uc003cru.3	+	3	490	c.64C>T	c.(64-66)Ccc>Tcc	p.P22S	DHX30_uc003crs.2_5'UTR|DHX30_uc003crt.3_5'UTR	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	22						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			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)		gtgcaaacttcccccaccccg	0.612000														110			7		0	0	0.004482	0	0
BMP10	27302	broad.mit.edu	37	2	69092896	69092896	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:69092896G>A	uc002sez.1	-	1	1301	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F		NM_014482	NP_055297	O95393	BMP10_HUMAN	Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA.	381					BMP signaling pathway|Notch signaling pathway|activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	Z disc|cell surface|extracellular space	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						AGCTTTCTGGGAATTCTTGAG	0.488000														98			67		0	0	0.014410	0	0
PKD1L1	168507	broad.mit.edu	37	7	47894637	47894637	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:47894637C>T	uc003tny.2	-	30	4736	c.4702_splice	c.e30-1	p.D1568_splice		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1568	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTCCTATTATCCTGTCATCAC	0.363000														38			12		0	0	0.002450	0	0
SPHKAP	80309	broad.mit.edu	37	2	228886639	228886639	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:228886639C>T	uc002vpq.2	-	5	532	c.485G>A	c.(484-486)gGg>gAg	p.G162E	SPHKAP_uc002vpp.2_Missense_Mutation_p.G162E|SPHKAP_uc010zlx.1_Missense_Mutation_p.G162E	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	162						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGGTCTGTTCCCTCTTGCACA	0.433000														21			5		0	0	0.000602	0	0
DUSP13	51207	broad.mit.edu	37	10	76854536	76854536	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:76854536G>A	uc001jwr.3	-	3	558	c.495C>T	c.(493-495)atC>atT	p.I165I	DUSP13_uc001jws.3_3'UTR|DUSP13_uc001jwu.3_Silent_p.I258I|DUSP13_uc001jww.3_Silent_p.I215I|DUSP13_uc009xrs.3_Silent_p.I258I|DUSP13_uc001jwt.3_Silent_p.I258I|DUSP13_uc001jwv.3_Silent_p.I165I	NM_016364	NP_057448	Q6B8I1	MDSP_HUMAN	Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 6, mRNA.	156	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCACCGTCTGGATGGCCTCTA	0.622000														17			6		0	0	0.001984	0	0
SLC6A17	388662	broad.mit.edu	37	1	110717561	110717561	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:110717561G>A	uc009wfq.3	+	4	1193	c.732G>A	c.(730-732)aaG>aaA	p.K244K		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	244					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	p.V243I(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CTGTCGTTAAGGGCATCCAGT	0.602000														29			9		0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179576075	179576075	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:179576075C>T	uc021vsy.1	-	94	24380	c.24155_splice	c.e94-1	p.E8052_splice	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Splice_Site_p.E4713_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8979	Ig-like 63.						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)			GAAGTTTTTGCTCTGTAGGAA	0.323000														42			4		0	0	0.009096	0	0
FLG	2312	broad.mit.edu	37	1	152276763	152276763	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:152276763C>T	uc001ezu.1	-	2	10635	c.10599G>A	c.(10597-10599)agG>agA	p.R3533R		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3533	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCCCTGGTTCCTGCTTGTCC	0.577000									Ichthyosis					141			55		0	0	0.014410	0	0
OR51F2	119694	broad.mit.edu	37	11	4843076	4843076	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:4843076G>A	uc010qyn.2	+	0	461	c.461G>A	c.(460-462)cGa>cAa	p.R154Q		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCAATGCCCGAATTGCCAAG	0.463000														106			34		0	0	0.003271	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174533	150174533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:150174533G>A	uc003whj.3	+	4	1993	c.1663G>A	c.(1663-1665)Gac>Aac	p.D555N		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	555						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CTTTGGAGCAGACTTTACGAA	0.483000														69			4		0	0	0.001168	0	0
HELQ	113510	broad.mit.edu	37	4	84367225	84367225	+	Silent	SNP	A	C	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:84367225A>C	uc003hom.3	-	4	1586	c.1407T>G	c.(1405-1407)ggT>ggG	p.G469G	HELQ_uc010ikb.3_Silent_p.G402G|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	Homo sapiens helicase, POLQ-like (HELQ), mRNA.	469	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						GGCTTCCTTCACCAATCATGT	0.328000								Other identified genes with known or suspected DNA repair function						73			6		0	0	0.003080	0	0
HSPA7	3311	broad.mit.edu	37	1	161576440	161576440	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:161576440G>A	uc010pkp.1	+	0	592	c.360G>A	c.(358-360)gaG>gaA	p.E120E						Homo sapiens heat shock 70kDa protein 7 (HSP70B) (HSPA7), non-coding RNA.																		ACCCCGAGGAGATCTCGTCCA	0.622000														28			12		0	0	0.013537	0	0
ST14	6768	broad.mit.edu	37	11	130059739	130059740	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:130059739_130059740CC>TT	uc001qfw.3	+	4	739_740	c.546_547CC>TT	c.(544-549)cccccg>ccTTcg	p.P183S	ST14_uc010sca.1_5'Flank	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	183					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TCATGCTGCCCCCGCGGGCGCG	0.668000														52			19		0	0	0.004672	0	0
IFNA10	3446	broad.mit.edu	37	9	21206918	21206918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:21206918C>T	uc003zoq.1	-	0	225	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	IFNA14_uc003zoo.1_Intron	NM_002171	NP_002162	P01566	IFN10_HUMAN	Homo sapiens interferon, alpha 10 (IFNA10), mRNA.	60					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	p.R60*(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		CTGGGGGATTCGGAAATCATG	0.517000														84			32		0	0	0.004289	0	0
LRIT2	340745	broad.mit.edu	37	10	85981712	85981712	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:85981712C>T	uc010qmc.2	-	3	1655	c.1647G>A	c.(1645-1647)ggG>ggA	p.G549G	LRIT2_uc001kcy.3_Silent_p.G539G	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	539						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TCTCCTTGTCCCCCTCAGTGT	0.582000														105			8		0	0	0.006214	0	0
GPC6	10082	broad.mit.edu	37	13	93879740	93879740	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:93879740C>T	uc001vlt.3	+	0	663	c.31C>T	c.(31-33)Ccc>Tcc	p.P11S	GPC6_uc010tig.1_Missense_Mutation_p.P11S	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	Homo sapiens glypican 6 (GPC6), mRNA.	11						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TGTGATTCTTCCCCTCTTGGG	0.637000											OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		45			11		0	0	0.013537	0	0
CXCL10	3627	broad.mit.edu	37	4	76943918	76943918	+	Silent	SNP	T	C	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:76943918T>C	uc003hjl.4	-	1	219	c.114A>G	c.(112-114)caA>caG	p.Q38Q	ART3_uc003hji.3_Intron|ART3_uc003hjj.3_Intron|ART3_uc003hjk.3_Intron	NM_001565	NP_001556	P02778	CXL10_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 10 (CXCL10), mRNA.	38					blood circulation|cell surface receptor linked signaling pathway|cell-cell signaling|chemotaxis|inflammatory response|muscle organ development|positive regulation of cell proliferation	extracellular space	cAMP-dependent protein kinase regulator activity|chemokine activity			kidney(1)|large_intestine(1)|lung(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GATTAACAGGTTGATTACTAA	0.398000														44			14		0	0	0.002450	0	0
ENOSF1	55556	broad.mit.edu	37	18	677819	677819	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr18:677819G>A	uc010dkf.3	-	11	1004	c.993C>T	c.(991-993)ttC>ttT	p.F331F	ENOSF1_uc002kku.4_Silent_p.F324F|ENOSF1_uc002kkt.4_Silent_p.F242F|ENOSF1_uc010dke.3_Non-coding_Transcript|ENOSF1_uc002kkw.4_Silent_p.F143F	NM_202758	NP_974487	Q7L5Y1	ENOF1_HUMAN	Homo sapiens enolase superfamily member 1 (ENOSF1), transcript variant 3, mRNA.	324					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						CAATCTGGAGGAACTGCAGGG	0.473000														66			12		0	0	0.013537	0	0
SLITRK5	26050	broad.mit.edu	37	13	88330434	88330434	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:88330434G>A	uc001vln.3	+	1	3010	c.2791G>A	c.(2791-2793)Gaa>Aaa	p.E931K	SLITRK5_uc010tic.1_Missense_Mutation_p.E690K|SLITRK5_uc021rlc.1_Missense_Mutation_p.E931K	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	931						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CAACCGGAACGAATATCTGGA	0.522000														81			10		0	0	0.010729	0	0
TRAV39	28642	broad.mit.edu	37	14	22772281	22772281	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:22772281G>A	uc010ajq.1	+	1	237	c.174G>A	c.(172-174)ggG>ggA	p.G58G	TCRA_uc001wbw.2_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TRAV38-2DV8_uc010tmr.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 39, partial cds, clone: SEB 374.																		AGGATCCTGGGAAAAGTCTGG	0.473000														13			3		0	0	0.009096	0	0
FOXS1	2307	broad.mit.edu	37	20	30432705	30432705	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:30432705G>A	uc002wwt.1	-	0	716	c.641C>T	c.(640-642)tCa>tTa	p.S214L		NM_004118	NP_004109	O43638	FOXS1_HUMAN	Homo sapiens forkhead box S1 (FOXS1), mRNA.	214					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CGCTGGGCATGAGGAAGATGA	0.617000														46			9		0	0	0.006214	0	0
OR2M4	26245	broad.mit.edu	37	1	248402762	248402762	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:248402762T>G	uc010pzh.2	+	0	532	c.532T>G	c.(532-534)Ttc>Gtc	p.F178V		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F177fs*4(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	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)			TCATCACTTTTTCTGTGATGT	0.433000														99			12		0	0	0.002450	0	0
PDE4C	5143	broad.mit.edu	37	19	18321849	18321849	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:18321849C>T	uc010xqc.2	-	14	2509	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K	PDE4C_uc002nik.4_Missense_Mutation_p.E677K|PDE4C_uc002nil.4_Missense_Mutation_p.E677K|PDE4C_uc002nig.4_Missense_Mutation_p.E392K|PDE4C_uc002nih.4_Missense_Mutation_p.E447K|PDE4C_uc010ebk.3_Missense_Mutation_p.E571K|PDE4C_uc002nii.4_Missense_Mutation_p.E645K|PDE4C_uc002nif.4_Missense_Mutation_p.E446K|PDE4C_uc010ebl.3_Missense_Mutation_p.E391K	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	677					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)	GCTGTctcttccccctcctct	0.587000														41			10		0	0	0.006214	0	0
DLK1	8788	broad.mit.edu	37	14	101201188	101201188	+	Silent	SNP	C	T	T	rs12975		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:101201188C>T	uc001yhs.4	+	4	1311	c.1107C>T	c.(1105-1107)atC>atT	p.I369I	DLK1_uc001yhu.4_Silent_p.I296I|DLK1_uc021sbs.1_Silent_p.I81I	NM_003836	NP_003827	P80370	DLK1_HUMAN	Homo sapiens delta-like 1 homolog (Drosophila) (DLK1), mRNA.	369					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CCGAGAAGATCGACATGACCA	0.557000														47			18		0	0	0.006122	0	0
SPTAN1	6709	broad.mit.edu	37	9	131370322	131370322	+	Silent	SNP	A	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:131370322A>G	uc004bvl.4	+	32	4480	c.4338A>G	c.(4336-4338)gaA>gaG	p.E1446E	SPTAN1_uc004bvm.4_Silent_p.E1446E|SPTAN1_uc004bvn.4_Silent_p.E1426E	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	1446					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGTGCCTTGAACTGCAGGTGT	0.532000														88			15		0	0	0.002450	0	0
FLG	2312	broad.mit.edu	37	1	152285758	152285758	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:152285758G>A	uc001ezu.1	-	2	1640	c.1604C>T	c.(1603-1605)tCg>tTg	p.S535L	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	535	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S535S(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTATTTACCGATTGCTCGTG	0.587000									Ichthyosis					242			75		0	0	0.014410	0	0
DDX27	55661	broad.mit.edu	37	20	47843021	47843021	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:47843021C>T	uc002xuh.3	+	6	809	c.748C>T	c.(748-750)Cct>Tct	p.P250S		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.	250	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGCGTGCATACCTGTGGGTCT	0.587000														59			6		0	0	0.003080	0	0
NEB	4703	broad.mit.edu	37	2	152425865	152425865	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:152425865C>T	uc021vrb.1	-	80	12378	c.12349G>A	c.(12349-12351)Gaa>Aaa	p.E4117K	NEB_uc002txr.3_Missense_Mutation_p.E583K|NEB_uc002txu.3_Missense_Mutation_p.E5818K|NEB_uc021vrc.1_Missense_Mutation_p.E5818K|NEB_uc010fnx.3_Missense_Mutation_p.E4105K|NEB_uc021vrd.1_Missense_Mutation_p.E4117K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4117					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CGCAACCATTCCAAGTCAGCC	0.473000														39			13		0	0	0.003163	0	0
MUC16	94025	broad.mit.edu	37	19	9074696	9074696	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:9074696C>T	uc002mkp.3	-	2	12954	c.12750G>A	c.(12748-12750)acG>acA	p.T4250T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4252	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						CCTCCATATTCGTCACTGCTG	0.478000														47			6		0	0	0.001168	0	0
CGNL1	84952	broad.mit.edu	37	15	57744421	57744421	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:57744421A>G	uc010bfw.3	+	6	2181	c.1988A>G	c.(1987-1989)gAg>gGg	p.E663G	CGNL1_uc002aeg.3_Missense_Mutation_p.E663G	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	663						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GAAAAGGTGGAGGAGAACTCC	0.493000														20			10		0	0	0.008291	0	0
CSMD3	114788	broad.mit.edu	37	8	113323258	113323258	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:113323258T>A	uc003ynu.3	-	49	7993	c.7834A>T	c.(7834-7836)Aag>Tag	p.K2612*	CSMD3_uc003yns.3_Nonsense_Mutation_p.K1814*|CSMD3_uc003ynt.3_Nonsense_Mutation_p.K2572*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.K2508*|CSMD3_uc003ynw.1_Nonsense_Mutation_p.K323*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2612	Sushi 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAGGAAGACTTTCTGCACACA	0.458000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				43			5		0	0	0.001984	0	0
OR2F2	135948	broad.mit.edu	37	7	143632903	143632903	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:143632903C>T	uc011ktv.2	+	0	578	c.578C>T	c.(577-579)tCc>tTc	p.S193F		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T192A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GTGGACACCTCCTCCAATGAG	0.488000														49			15		0	0	0.004007	0	0
abParts	0	broad.mit.edu	37	14	106725194	106725194	+	RNA	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:106725194C>T	uc021ser.1	-	927		c.22318G>A								Parts of antibodies, mostly variable regions.																		CTTCCCCTCACTGTGTCTTTC	0.552000														135			16		0	0	0.003163	0	0
RHPN1	114822	broad.mit.edu	37	8	144464776	144464776	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:144464776G>A	uc003yyb.3	+	14	2101	c.1968G>A	c.(1966-1968)gtG>gtA	p.V656V		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 1 (RHPN1), mRNA.	681					signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GTGCCCCAGTGAAGCCAGCTC	0.701000														20			7		0	0	0.008291	0	0
BSN	8927	broad.mit.edu	37	3	49689107	49689107	+	Silent	SNP	A	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:49689107A>G	uc003cxe.4	+	4	2232	c.2118A>G	c.(2116-2118)gaA>gaG	p.E706E		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	706					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGGAGGTGGAACAGCTGGACA	0.632000														63			12		0	0	0.013537	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204396825	204396825	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:204396825G>A	uc001haw.3	-	31	5017	c.4538C>T	c.(4537-4539)tCc>tTc	p.S1513F	PIK3C2B_uc010pqv.2_Missense_Mutation_p.S1485F	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	1513					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTTTTTGTAGGAGATGGACAG	0.483000														109			36		0	0	0.008740	0	0
SHANK2	22941	broad.mit.edu	37	11	70333073	70333073	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:70333073C>T	uc001oqc.3	-	20	3239	c.3127G>A	c.(3127-3129)Gat>Aat	p.D1043N	SHANK2_uc010rqn.2_Missense_Mutation_p.D519N|SHANK2_uc001opz.3_Missense_Mutation_p.D514N|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.	730					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)			ACATCCTCATCCCCCAGGTCT	0.697000														39			15		0	0	0.004007	0	0
TSSK4	283629	broad.mit.edu	37	14	24676702	24676702	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:24676702C>T	uc001wnh.3	+	2	1025	c.821C>T	c.(820-822)tCc>tTc	p.S274F	TM9SF1_uc010tob.1_Intron|TSSK4_uc001wne.3_Missense_Mutation_p.S188F|TSSK4_uc001wnf.3_Missense_Mutation_p.S194F|TSSK4_uc001wng.3_Missense_Mutation_p.S264F	NM_001184739	NP_001171668	Q6SA08	TSSK4_HUMAN	Homo sapiens testis-specific serine kinase 4 (TSSK4), transcript variant 1, mRNA.	264	Protein kinase.				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		CATACCATCTCCCAGGAGTGC	0.532000														36			11		0	0	0.008291	0	0
LRRC7	57554	broad.mit.edu	37	1	70460279	70460279	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:70460279G>A	uc001dep.3	+	8	883	c.853G>A	c.(853-855)Gac>Aac	p.D285N	LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	285						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AAAAGTAGATGACAATCAACT	0.333000														91			12		0	0	0.001855	0	0
DPPA3	359787	broad.mit.edu	37	14	36840694	36840694	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:36840694G>A	uc001wtp.3	+	0	325	c.76G>A	c.(76-78)Gat>Aat	p.D26N		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	26						cytoplasm|nucleus		p.D26N(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		TTCCCGGGACGATTCAGGGGC	0.478000														30			4		0	0	0.009096	0	0
DSTYK	25778	broad.mit.edu	37	1	205138441	205138441	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:205138441C>A	uc001hbw.3	-	2	1238	c.1174G>T	c.(1174-1176)Gaa>Taa	p.E392*	DSTYK_uc001hbx.3_Nonsense_Mutation_p.E392*|DSTYK_uc001hby.1_Intron	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.	392						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						CGAGTATATTCCAGACGTTTG	0.443000														43			8		7.48243e-07	7.90581e-07	0.006214	1	0
COL5A1	1289	broad.mit.edu	37	9	137593137	137593137	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:137593137C>T	uc004cfe.3	+	3	994	c.612C>T	c.(610-612)atC>atT	p.I204I		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	204	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCAATGGCATCATCGTGTTTG	0.557000														15			3		0	0	0.009096	0	0
VWA3B	200403	broad.mit.edu	37	2	98797639	98797639	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:98797639A>C	uc002syo.3	+	8	1539	c.1275A>C	c.(1273-1275)aaA>aaC	p.K425N	VWA3B_uc010yvh.2_Missense_Mutation_p.K275N|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.3_Missense_Mutation_p.K425N|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.K82N	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	425										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGGATATAAAAGCCAAACCGG	0.572000														82			10		0	0	0.013537	0	0
CDHR2	54825	broad.mit.edu	37	5	176005596	176005596	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:176005596C>T	uc021yie.1	+	15	2079	c.1805C>T	c.(1804-1806)tCc>tTc	p.S602F	CDHR2_uc003mem.2_Missense_Mutation_p.S602F|CDHR2_uc003men.1_Missense_Mutation_p.S602F	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	602	Cadherin 6.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GGCAATGTCTCCGTGACCATC	0.612000														32			11		0	0	0.001855	0	0
EML5	161436	broad.mit.edu	37	14	89093244	89093244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:89093244C>T	uc021ryf.1	-	33	4927	c.4678G>A	c.(4678-4680)Ggg>Agg	p.G1560R	EML5_uc001xxf.3_Missense_Mutation_p.G347R|EML5_uc021ryg.1_Missense_Mutation_p.G1560R|EML5_uc001xxh.1_Missense_Mutation_p.G691R	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	1552						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTCAGTAGCCCTTTTTTGCTA	0.468000														47			5		0	0	0.000602	0	0
BPIFB1	92747	broad.mit.edu	37	20	31877752	31877752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:31877752G>A	uc002wyw.1	+	3	480	c.319G>A	c.(319-321)Gag>Aag	p.E107K	BPIFB1_uc010gej.1_Missense_Mutation_p.E107K	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA.	107						extracellular space	lipid binding										CAATGACCAGGAGCTGCTAGT	0.552000														50			16		0	0	0.004990	0	0
AMPH	273	broad.mit.edu	37	7	38424484	38424484	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:38424484G>A	uc003tgu.3	-	20	2239	c.2023C>T	c.(2023-2025)Cag>Tag	p.Q675*	AMPH_uc003tgv.3_Nonsense_Mutation_p.Q633*|AMPH_uc003tgt.3_Nonsense_Mutation_p.Q560*	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	675	SH3.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TCTCTGTACTGAAGCCAGTCT	0.498000														76			25		0	0	0.003330	0	0
GLYATL2	219970	broad.mit.edu	37	11	58604580	58604580	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:58604580C>T	uc001nnd.4	-	4	515	c.384G>A	c.(382-384)atG>atA	p.M128I	GLYATL2_uc009ymq.3_Missense_Mutation_p.M128I	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	128						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	GGATGGTTTTCATGTAATCTA	0.388000														52			21		0	0	0.010504	0	0
MOCOS	55034	broad.mit.edu	37	18	33836961	33836961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr18:33836961C>T	uc002kzq.4	+	11	2218	c.2195C>T	c.(2194-2196)tCt>tTt	p.S732F		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	Homo sapiens molybdenum cofactor sulfurase (MOCOS), mRNA.	732	MOSC.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	Mo-molybdopterin cofactor sulfurase activity|lyase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	GCCACCCTTTCTCTGGTGAAT	0.438000														129			18		0	0	0.012319	0	0
PSG3	5671	broad.mit.edu	37	19	43233499	43233499	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:43233499G>A	uc002oue.3	-	4	1151	c.1019C>T	c.(1018-1020)tCa>tTa	p.S340L	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.S340L	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	340	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				ATAGGTGAATGAAGGGTAAAT	0.473000														131			19		0	0	0.008871	0	0
TACC3	10460	broad.mit.edu	37	4	1729699	1729699	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:1729699C>T	uc003gdo.3	+	3	725	c.570C>T	c.(568-570)tcC>tcT	p.S190S	TACC3_uc010ibz.3_Silent_p.S190S|TACC3_uc003gdp.3_Intron	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	190						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GTTCCTATTCCTTAGACAGAA	0.547000														41			9		0	0	0.010729	0	0
CCDC60	160777	broad.mit.edu	37	12	119909840	119909840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:119909840C>T	uc001txe.3	+	2	677	c.212C>T	c.(211-213)gCt>gTt	p.A71V	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	71										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GGATATTTTGCTATTCTGAGG	0.463000														76			11		0	0	0.013537	0	0
TLL1	7092	broad.mit.edu	37	4	166999147	166999147	+	Missense_Mutation	SNP	G	A	A	rs150952504		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:166999147G>A	uc003irh.2	+	17	3054	c.2407G>A	c.(2407-2409)Gaa>Aaa	p.E803K	TLL1_uc011cjn.2_Missense_Mutation_p.E826K|TLL1_uc011cjo.2_Missense_Mutation_p.E627K	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	803	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATGCACTTGGGAAATCAGCGC	0.488000														44			5		0	0	0.000602	0	0
DLGAP3	58512	broad.mit.edu	37	1	35334585	35334585	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:35334585G>A	uc001byc.3	-	6	2106	c.2106C>T	c.(2104-2106)gcC>gcT	p.A702A		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	702					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CAAACTGCAGGGCCTTGTCTT	0.677000														17			13		0	0	0.013537	0	0
ZNF222	7673	broad.mit.edu	37	19	44536205	44536205	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:44536205C>T	uc002oye.3	+	3	593	c.498C>T	c.(496-498)ttC>ttT	p.F166F	ZNF284_uc010ejd.2_Intron|ZNF222_uc002oyc.3_Silent_p.F126F|ZNF222_uc002oyd.3_Silent_p.F72F	NM_001129996	NP_001123468	Q9UK12	ZN222_HUMAN	Homo sapiens zinc finger protein 222 (ZNF222), transcript variant 1, mRNA.	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				AACAGTTCTTCAGTGATGTTT	0.398000														67			24		0	0	0.002780	0	0
TDRD5	163589	broad.mit.edu	37	1	179638490	179638490	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:179638490C>T	uc010pnp.2	+	16	3329	c.2811C>T	c.(2809-2811)ccC>ccT	p.P937P	TDRD5_uc021pfm.1_Silent_p.P883P|TDRD5_uc001gnf.2_Silent_p.P883P|TDRD5_uc021pfn.1_Silent_p.P937P|TDRD5_uc001gnh.2_Silent_p.P438P	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	883					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.L936*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CAGCAGCACCCTGTTCAACAA	0.493000														92			7		0	0	0.003080	0	0
XDH	7498	broad.mit.edu	37	2	31600013	31600013	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:31600013C>T	uc002rnv.1	-	13	1412	c.1333G>A	c.(1333-1335)Gga>Aga	p.G445R		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	445					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TCTGTGGTTCCTGGCTTGAAT	0.502000														66			11		0	0	0.008291	0	0
SLC5A12	159963	broad.mit.edu	37	11	26714049	26714049	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:26714049G>A	uc001mra.2	-	8	1453	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Silent_p.I380I	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	380					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AGCCTTTACTGATCCAGGTGC	0.458000														32			6		0	0	0.001168	0	0
ZFP112	7771	broad.mit.edu	37	19	44833910	44833910	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:44833910G>A	uc010xwy.2	-	4	587	c.469C>T	c.(469-471)Ctc>Ttc	p.L157F	ZFP112_uc010ejj.3_Missense_Mutation_p.L140F|ZFP112_uc002ozc.4_Missense_Mutation_p.L134F|ZFP112_uc010xwz.2_Missense_Mutation_p.L139F	NM_013380	NP_037512	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 112 homolog (mouse) (ZFP112), transcript variant 2, mRNA.	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						ACCTGGCCGAGGGAATTACCT	0.403000														34			7		0	0	0.003080	0	0
MUC20	200958	broad.mit.edu	37	3	195453126	195453126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:195453126C>T	uc010hzo.3	+	2	1265	c.1139C>T	c.(1138-1140)cCg>cTg	p.P380L	MUC20_uc010hzp.3_Missense_Mutation_p.P345L|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.	551	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				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)		GGAGCAGCTCCGGTCTCCATA	0.552000														35			7		0	0	0.001984	0	0
TBRG4	9238	broad.mit.edu	37	7	45143016	45143016	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:45143016G>A	uc011kcd.2	-	5	1174	c.1125C>T	c.(1123-1125)atC>atT	p.I375I	TBRG4_uc003tmu.3_Silent_p.I189I|TBRG4_uc003tmv.3_Silent_p.I364I|TBRG4_uc003tmw.3_Silent_p.I254I|TBRG4_uc003tmx.3_Silent_p.I254I	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	Homo sapiens transforming growth factor beta regulator 4 (TBRG4), transcript variant 1, mRNA.	364					G1 phase of mitotic cell cycle|apoptosis|cell cycle arrest|cellular respiration|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						GGGGCAGGGTGATGTCCTGCG	0.582000														10			3		0	0	0.004672	0	0
KCNAB1	7881	broad.mit.edu	37	3	156170718	156170718	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:156170718C>T	uc003far.2	+	2	414	c.350C>T	c.(349-351)tCa>tTa	p.S117L	KCNAB1_uc011bon.1_Missense_Mutation_p.S117L|KCNAB1_uc003fas.2_Missense_Mutation_p.S106L|KCNAB1_uc003fat.2_Missense_Mutation_p.S99L|KCNAB1_uc010hvt.1_Missense_Mutation_p.S99L	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 1, mRNA.	117						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GGTCAAATTTCAGATGAGGTA	0.363000														113			16		0	0	0.008871	0	0
OLA1	29789	broad.mit.edu	37	2	175006601	175006601	+	Silent	SNP	T	C	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:175006601T>C	uc002uih.3	-	4	687	c.501A>G	c.(499-501)ctA>ctG	p.L167L	OLA1_uc002uii.3_Silent_p.L9L|OLA1_uc010fqq.3_Silent_p.L167L|OLA1_uc010fqr.3_Silent_p.L167L	NM_013341	NP_001011708	Q9NTK5	OLA1_HUMAN	Homo sapiens Obg-like ATPase 1 (OLA1), transcript variant 1, mRNA.	167					ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CCACCTTTTCTAGTTTATCTA	0.328000														50			14		0	0	0.003163	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072290	17072290	+	Missense_Mutation	SNP	C	T	T	rs141686687		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr22:17072290C>T	uc002zlp.1	-	0	1411	c.1151G>A	c.(1150-1152)gGg>gAg	p.G384E		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	384					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ACTCCGCAGCCCCTGGGTGGT	0.567000														61			14		0	0	0.001855	0	0
BAI1	575	broad.mit.edu	37	8	143605608	143605608	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:143605608C>T	uc003ywm.3	+	21	3438	c.3255C>T	c.(3253-3255)ctC>ctT	p.L1085L		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	1085					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCTGCTGGCTCTCCCTGGAGG	0.697000														8			4		0	0	0.000602	0	0
ZNF423	23090	broad.mit.edu	37	16	49671203	49671203	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:49671203G>A	uc002efs.3	-	4	2158	c.1860C>T	c.(1858-1860)ctC>ctT	p.L620L	ZNF423_uc010vgn.2_Silent_p.L503L	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	620					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CGCTTGCTGAGAGCCGCTGCC	0.567000														43			7		0	0	0.001984	0	0
TCRA	0	broad.mit.edu	37	14	22476386	22476386	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:22476386G>A	uc001wcu.4	+	1	420	c.322G>A	c.(322-324)Gac>Aac	p.D108N	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc021rpn.1_Missense_Mutation_p.D108N|TCRA_uc010tmm.2_Intron|TCRA_uc001wct.4_3'UTR					RecName: Full=T-cell receptor alpha chain V region HPB-MLT; Flags: Precursor; Fragment;																		ACAAGTCGTGGACTCAGCAGT	0.498000														14			6		0	0	0.001168	0	0
FBXO8	26269	broad.mit.edu	37	4	175184102	175184102	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:175184102G>A	uc003itp.3	-	1	992	c.142C>T	c.(142-144)Caa>Taa	p.Q48*	FBXO8_uc003itq.3_Nonsense_Mutation_p.Q48*	NM_012180	NP_036312	Q9NRD0	FBX8_HUMAN	Homo sapiens F-box protein 8 (FBXO8), mRNA.	48					regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		ATGCCTCCTTGGACTTGTTTA	0.438000														74			15		0	0	0.004007	0	0
ITGAX	3687	broad.mit.edu	37	16	31391663	31391663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:31391663C>T	uc002ebt.3	+	26	3204	c.3137C>T	c.(3136-3138)aCc>aTc	p.T1046I	ITGAX_uc002ebu.1_Missense_Mutation_p.T1046I	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	1046					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTGGATTTCACCCTGAAGGGC	0.632000														15			3		0	0	0.000602	0	0
WBSCR17	64409	broad.mit.edu	37	7	70886089	70886089	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:70886089C>T	uc003tvy.3	+	4	960	c.960C>T	c.(958-960)atC>atT	p.I320I	WBSCR17_uc003tvz.3_Silent_p.I19I	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	320	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.I320V(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CTCTCCCCATCAGGTCTGTGG	0.612000														27			8		0	0	0.004482	0	0
FAM71B	153745	broad.mit.edu	37	5	156589928	156589928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:156589928C>T	uc003lwn.3	-	1	1448	c.1348G>A	c.(1348-1350)Ggt>Agt	p.G450S		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	450						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGACTTTCACCTGCCTTGCGG	0.483000														312			145		0	0	0.014410	0	0
CPAMD8	27151	broad.mit.edu	37	19	17091485	17091485	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:17091485T>G	uc002nfb.3	-	13	1580	c.1548A>C	c.(1546-1548)gaA>gaC	p.E516D		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	469						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AAAAATAGGCTTCTTCCCCAA	0.577000														48			5		0	0	0.001984	0	0
CCR5	1234	broad.mit.edu	37	3	46415077	46415077	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:46415077G>A	uc003cpo.4	+	2	806	c.684G>A	c.(682-684)aaG>aaA	p.K228K	CCR5_uc010hjd.3_Silent_p.K228K|CCR5_uc021wxb.1_Silent_p.K228K	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	228			Missing.		cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GAAATGAGAAGAAGAGGCACA	0.478000														219			26		0	0	0.005443	0	0
CCDC60	160777	broad.mit.edu	37	12	119960774	119960774	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:119960774C>T	uc001txe.3	+	9	1536	c.1071C>T	c.(1069-1071)agC>agT	p.S357S	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	357								p.S357I(1)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GTGCAGAAAGCCACATCCAAC	0.488000														112			19		0	0	0.008871	0	0
ARNT	405	broad.mit.edu	37	1	150804340	150804340	+	Silent	SNP	G	A	A	rs146538917	byFrequency	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:150804340G>A	uc001evr.2	-	9	1110	c.909C>T	c.(907-909)ttC>ttT	p.F303F	ARNT_uc001evs.2_Silent_p.F288F|ARNT_uc009wmd.2_Silent_p.F288F|ARNT_uc009wmb.2_Silent_p.F294F|ARNT_uc009wmc.2_Silent_p.F303F|ARNT_uc009wme.2_Silent_p.F303F|ARNT_uc010pcl.2_Silent_p.F287F	NM_001668	NP_001659	P27540	ARNT_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA.	303					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGACCACCACGAAGTGAGGTT	0.448000			T	ETV6	AML									48			22		0	0	0.004656	0	0
PSMA1	5682	broad.mit.edu	37	11	14535181	14535181	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:14535181G>A	uc001mll.3	-	7	842	c.497C>T	c.(496-498)tCc>tTc	p.S166F	PSMA1_uc010rcp.1_Non-coding_Transcript|PSMA1_uc001mlk.3_Missense_Mutation_p.S160F	NM_148976	NP_683877	P25786	PSA1_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 1 (PSMA1), transcript variant 1, mRNA.	160					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	RNA binding|protein binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						GGCTCCAATGGACATGGCTCT	0.373000														23			8		0	0	0.003080	0	0
NLRC4	58484	broad.mit.edu	37	2	32476179	32476179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:32476179C>T	uc002roi.3	-	3	1015	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	NLRC4_uc021vfq.1_Missense_Mutation_p.E252K|NLRC4_uc002roj.2_Missense_Mutation_p.E252K|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	252	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGCTTGAATTCATTGTAGCCA	0.498000														80			13		0	0	0.001855	0	0
PKD1L1	168507	broad.mit.edu	37	7	47840287	47840287	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:47840287C>T	uc003tny.2	-	53	8187	c.8153G>A	c.(8152-8154)gGg>gAg	p.G2718E	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2718					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TAAAAGGATCCCAAAGTAACA	0.458000														49			4		0	0	0.001984	0	0
MRE11A	4361	broad.mit.edu	37	11	94169038	94169038	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:94169038C>T	uc009ywj.2	-	17	2283	c.1963G>A	c.(1963-1965)Gaa>Aaa	p.E655K	MRE11A_uc001peu.2_Missense_Mutation_p.E652K|MRE11A_uc001pev.2_Missense_Mutation_p.E624K			P49959	MRE11_HUMAN	Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (MRE11A), transcript variant 1, mRNA.	652					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				ATGTCTTCTTCCACATCTGAT	0.328000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder					54			11		0	0	0.013537	0	0
GRIA2	2891	broad.mit.edu	37	4	158224909	158224909	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:158224909G>A	uc003ipm.4	+	2	894	c.435G>A	c.(433-435)tgG>tgA	p.W145*	GRIA2_uc011cit.2_Nonsense_Mutation_p.W98*|GRIA2_uc021xtr.1_Nonsense_Mutation_p.W145*|GRIA2_uc003ipl.4_Nonsense_Mutation_p.W145*|GRIA2_uc003ipk.4_Nonsense_Mutation_p.W98*|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	145					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ACTATCAATGGGACAAGTTTG	0.443000														64			12		0	0	0.010729	0	0
OTOA	146183	broad.mit.edu	37	16	21709162	21709162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:21709162C>T	uc002djh.3	+	8	807	c.806C>T	c.(805-807)tCg>tTg	p.S269L	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.S190L	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	269					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GTTCACCTATCGTTTGAAGAA	0.348000														58			4		0	0	0.001984	0	0
MYCBP2	23077	broad.mit.edu	37	13	77619581	77619581	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:77619581C>A	uc021rks.1	-	82	14236	c.13969G>T	c.(13969-13971)Gtt>Ttt	p.V4657F	MYCBP2_uc010aev.3_Missense_Mutation_p.V4023F|MYCBP2_uc001vke.3_Missense_Mutation_p.V1236F	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	4619					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGTGGATGAACAACATGGAGT	0.423000														51			7		2.17888e-05	2.29717e-05	0.006214	1	0
CEP57L1	285753	broad.mit.edu	37	6	109484108	109484108	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:109484108C>T	uc010kdk.3	+	12	1895	c.1318C>T	c.(1318-1320)Cat>Tat	p.H440Y	CEP57L1_uc003psx.4_3'UTR|CEP57L1_uc010kdl.3_Missense_Mutation_p.H440Y|CEP57L1_uc003psy.4_Missense_Mutation_p.H440Y	NM_001083535	NP_776191	Q8IYX8	CE57L_HUMAN	Homo sapiens centrosomal protein 57kDa-like 1 (CEP57L1), transcript variant 1, mRNA.	440						microtubule|microtubule organizing center				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						CAGCAGCTTTCATCCAATACG	0.353000														21			4		0	0	0.009096	0	0
C20orf26	26074	broad.mit.edu	37	20	20168671	20168671	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:20168671G>C	uc002wru.3	+	13	1597	c.1483G>C	c.(1483-1485)Gac>Cac	p.D495H	C20orf26_uc010zse.2_Missense_Mutation_p.D475H	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	495										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)		GGAGGACTTAGACCGTTACAA	0.443000														72			7		0	0	0.003080	0	0
SLC23A1	9963	broad.mit.edu	37	5	138713965	138713965	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:138713965G>A	uc003leg.3	-	10	1364	c.1267C>T	c.(1267-1269)Ctc>Ttc	p.L423F	SLC23A1_uc003leh.3_Missense_Mutation_p.L419F	NM_152685	NP_689898	Q9UHI7	S23A1_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 1 (SLC23A1), transcript variant 2, mRNA.	419					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	L-ascorbate:sodium symporter activity|dehydroascorbic acid transporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity	p.L423fs*7(4)		biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	GAGGAGAAGAGGGCCGTGAAC	0.682000														14			3		0	0	0.004672	0	0
COL6A3	1293	broad.mit.edu	37	2	238253035	238253035	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:238253035G>A	uc002vwl.2	-	35	7911	c.7626C>T	c.(7624-7626)ttC>ttT	p.F2542F	COL6A3_uc002vwo.2_Silent_p.F2336F|COL6A3_uc010znj.1_Silent_p.F1935F|COL6A3_uc002vwj.2_5'Flank|COL6A3_uc002vwp.1_Silent_p.F363F	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2542	Nonhelical region.|VWFA 11.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCCTTGTAAGGAACAAGGGGG	0.552000														120			20		0	0	0.007413	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508112	106508112	+	Missense_Mutation	SNP	G	A	A	rs142342118		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:106508112G>A	uc003vdv.4	+	1	191	c.106G>A	c.(106-108)Gag>Aag	p.E36K	PIK3CG_uc003vdu.3_Missense_Mutation_p.E36K|PIK3CG_uc003vdw.3_Missense_Mutation_p.E36K	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	36					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTCCTCCATGGAGCTCATCCC	0.647000														53			16		0	0	0.007413	0	0
HEATR5A	25938	broad.mit.edu	37	14	31827966	31827966	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:31827966G>A	uc001wrf.4	-	15	2473	c.2288C>T	c.(2287-2289)tCg>tTg	p.S763L	HEATR5A_uc010ami.3_Missense_Mutation_p.S368L|HEATR5A_uc001wrg.1_Missense_Mutation_p.S352L|HEATR5A_uc010tpk.1_Missense_Mutation_p.S763L	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	757							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CTCATAAATCGAATAAGGGTC	0.403000														58			20		0	0	0.008871	0	0
CDKL3	51265	broad.mit.edu	37	5	133541810	133541810	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:133541810G>A	uc003kze.3	-	1	513	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	CDKL3_uc011cxm.1_Silent_p.L385L|CDKL3_uc011cxn.1_Non-coding_Transcript	NM_002715	NP_002706	Q8IVW4	CDKL3_HUMAN	Homo sapiens protein phosphatase 2, catalytic subunit, alpha isozyme (PPP2CA), mRNA.	0	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTTTTGTCAGGATTTCTTTA	0.363000														30			13		0	0	0.001855	0	0
PSG4	5672	broad.mit.edu	37	19	43411107	43411107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:43411107C>T	uc002ovj.1	-	4	1306	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Missense_Mutation_p.E243K|PSG4_uc002ovg.1_Missense_Mutation_p.E403K	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	404	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TTGGAGATTTCCTTGCCAGTG	0.448000														205			20		0	0	0.007413	0	0
XYLT2	64132	broad.mit.edu	37	17	48433239	48433239	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:48433239G>A	uc002iqo.3	+	5	1295	c.1186G>A	c.(1186-1188)Gat>Aat	p.D396N	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	396					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					CATTGTGGTGGATGGCGGTTC	0.582000														30			22		0	0	0.012319	0	0
KIAA0494	9813	broad.mit.edu	37	1	47181973	47181973	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:47181973G>A	uc001cqk.4	-	1	1305	c.328C>T	c.(328-330)Cga>Tga	p.R110*	KIAA0494_uc010omh.1_Nonsense_Mutation_p.R110*	NM_014774	NP_055589	O75071	K0494_HUMAN	Homo sapiens KIAA0494 (KIAA0494), mRNA.	110							calcium ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7	Acute lymphoblastic leukemia(166;0.155)					TTACTTGTTCGAAATTTTTCC	0.443000														14			3		0	0	0.004672	0	0
ISL1	3670	broad.mit.edu	37	5	50687133	50687133	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:50687133C>T	uc003jor.3	+	4	1339	c.791C>T	c.(790-792)cCc>cTc	p.P264L		NM_002202	NP_002193	P61371	ISL1_HUMAN	Homo sapiens ISL LIM homeobox 1 (ISL1), mRNA.	264	Gln-rich.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				ACAGGAACTCCCATGGTGGCT	0.522000														24			13		0	0	0.003163	0	0
TBC1D7	51256	broad.mit.edu	37	6	13306760	13306760	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:13306760C>T	uc003naj.3	-	7	774	c.666_splice	c.e7-1	p.R222_splice	TBC1D7_uc011dis.2_Intron|TBC1D7_uc003nal.3_Splice_Site_p.R222_splice|TBC1D7_uc003nan.3_Splice_Site_p.R222_splice|TBC1D7_uc003nam.3_Splice_Site_p.R222_splice|TBC1D7_uc003nao.3_Splice_Site_p.R195_splice|TBC1D7_uc010jpd.3_Splice_Site_p.R176_splice	NM_016495	NP_057579	Q9P0N9	TBCD7_HUMAN	Homo sapiens TBC1 domain family, member 7 (TBC1D7), transcript variant 1, mRNA.	222	Rab-GAP TBC.				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	Rab GTPase activator activity|protein binding			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			ATCCCAAACCCTACAAAAATA	0.289000														92			10		0	0	0.008291	0	0
OR10G9	219870	broad.mit.edu	37	11	123894487	123894487	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:123894487C>T	uc010sad.2	+	0	768	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 9 (OR10G9), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCTGTGTTTTCATTTACCTGA	0.542000														55			12		0	0	0.013537	0	0
TEC	7006	broad.mit.edu	37	4	48143371	48143371	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:48143371C>T	uc003gxz.3	-	15	1626	c.1535_splice	c.e15+1	p.R512_splice		NM_003215	NP_003206	P42680	TEC_HUMAN	Homo sapiens tec protein tyrosine kinase (TEC), mRNA.	512	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CTTGGACATACCTGGCCATTC	0.363000														14			5		0	0	0.001168	0	0
NRAS	4893	broad.mit.edu	37	1	115256527	115256528	+	Missense_Mutation	DNP	CT	TG	TG	rs121913255		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:115256527_115256528CT>TG	uc009wgu.3	-	2	437_438	c.183_184AG>CA	c.(181-186)caagaa>caCAaa	p.61_62QE>HK		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(898)|p.Q61K(635)|p.Q61H(223)|p.Q61L(198)|p.Q61P(23)|p.Q61E(9)|p.Q61Q(6)|p.G60E(6)|p.Q61?(5)|p.Q61_E62>HK(2)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGTACTCTTCTTGTCCAGCTG	0.460000	Q61H(ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61H(RD_SOFT_TISSUE)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				123			33		0	0	0.004672	0	0
ANGPT4	51378	broad.mit.edu	37	20	861925	861925	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:861925G>A	uc002wei.3	-	4	943	c.840C>T	c.(838-840)ttC>ttT	p.F280F	ANGPT4_uc010zpn.2_Silent_p.F274F	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	280					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CTGCCATTATGAAGGCTGCAA	0.567000														25			7		0	0	0.001984	0	0
DOPEY1	23033	broad.mit.edu	37	6	83847360	83847360	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:83847360C>T	uc011dyy.2	+	20	3832	c.3572C>T	c.(3571-3573)tCc>tTc	p.S1191F	DOPEY1_uc003pjs.1_Missense_Mutation_p.S1200F|DOPEY1_uc010kbl.1_Missense_Mutation_p.S1191F|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	1200					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GAAGATGACTCCATTCAACAG	0.418000														45			20		0	0	0.008871	0	0
MAD1L1	8379	broad.mit.edu	37	7	2269665	2269665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:2269665G>A	uc003slh.1	-	2	370	c.104C>T	c.(103-105)aCc>aTc	p.T35I	MAD1L1_uc003slf.1_Missense_Mutation_p.T35I|MAD1L1_uc003slg.1_Missense_Mutation_p.T35I|MAD1L1_uc010ksh.1_Missense_Mutation_p.T35I|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Missense_Mutation_p.T35I|MAD1L1_uc010ksj.3_Missense_Mutation_p.T35I	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN	Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.	35					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TGGGGCCGAGGTAGAAATATC	0.572000														22			13		0	0	0.001855	0	0
TRPC7	57113	broad.mit.edu	37	5	135693067	135693067	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:135693067C>T	uc003lbn.2	-	1	231	c.9G>A	c.(7-9)agG>agA	p.R3R	TRPC7_uc010jef.2_5'UTR|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.R3R|TRPC7_uc010jei.2_Silent_p.R3R	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	3					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGTGCTGTTCCTCAACCTAT	0.527000														24			12		0	0	0.013537	0	0
AKAP8	10270	broad.mit.edu	37	19	15484089	15484089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:15484089G>A	uc002nav.3	-	4	504	c.434C>T	c.(433-435)cCc>cTc	p.P145L	AKAP8_uc010dzy.3_5'UTR|AKAP8_uc010dzz.1_Non-coding_Transcript|AKAP8_uc010xog.2_5'UTR	NM_005858	NP_005849	O43823	AKAP8_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8 (AKAP8), mRNA.	145					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						GGGGCGGTAGGGGTTGTGCTC	0.642000														37			5		0	0	0.000602	0	0
DIAPH1	1729	broad.mit.edu	37	5	140954566	140954566	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:140954566G>A	uc003llb.4	-	14	1750	c.1609C>T	c.(1609-1611)Ctg>Ttg	p.L537L	DIAPH1_uc003llc.4_Silent_p.L528L|DIAPH1_uc021yep.1_Silent_p.L537L|DIAPH1_uc021yeq.1_Silent_p.L528L|DIAPH1_uc010jgc.1_5'Flank	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	537					regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGCTTCCAGGTCCTGTTTC	0.488000														43			25		0	0	0.003954	0	0
RAB27A	5873	broad.mit.edu	37	15	55520877	55520877	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:55520877A>C	uc002aco.3	-	4	504	c.273T>G	c.(271-273)gaT>gaG	p.D91E	RAB27A_uc002acr.3_Missense_Mutation_p.D91E|RAB27A_uc002acp.3_Missense_Mutation_p.D91E|RAB27A_uc002acq.3_Missense_Mutation_p.D91E	NM_183234	NP_899059	P51159	RB27A_HUMAN	Homo sapiens RAB27A, member RAS oncogene family (RAB27A), transcript variant 2, mRNA.	91					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		AACCCATAGCATCTCTGAAGA	0.408000														33			18		0	0	0.008871	0	0
C3	718	broad.mit.edu	37	19	6718157	6718157	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:6718157G>A	uc002mfm.3	-	3	514	c.452C>T	c.(451-453)aCc>aTc	p.T151I		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	151					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GTGGTTGACGGTGAAGATCCG	0.662000														52			12		0	0	0.001855	0	0
HTRA3	94031	broad.mit.edu	37	4	8304223	8304223	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:8304223G>A	uc003gla.3	+	6	1292	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q		NM_053044	NP_444272	P83110	HTRA3_HUMAN	Homo sapiens HtrA serine peptidase 3 (HTRA3), mRNA.	362	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						ATACGGATGCGGACGATCACA	0.592000														32			6		0	0	0.001168	0	0
OR2C3	81472	broad.mit.edu	37	1	247695611	247695611	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:247695611G>A	uc021pmb.1	-	0	203	c.203C>T	c.(202-204)cCc>cTc	p.P68L	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Missense_Mutation_p.P68L	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	68			P -> S (in dbSNP:rs6657127).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GTCCAGGAAGGGGAGGTTGGC	0.507000														47			7		0	0	0.003080	0	0
MAN1C1	57134	broad.mit.edu	37	1	26090398	26090398	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:26090398G>A	uc001bkm.2	+	6	1411	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	MAN1C1_uc009vry.1_Missense_Mutation_p.E181K	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA.	361					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CAGGAAGATCGAAAAGCCCTT	0.587000														71			24		0	0	0.006320	0	0
FAM83C	128876	broad.mit.edu	37	20	33879675	33879675	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:33879675G>A	uc021wck.1	-	0	551	c.433C>T	c.(433-435)Cag>Tag	p.Q145*	FAM83C_uc002xcb.1_5'UTR	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	145										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ACCACAGCCTGGGTGGGGCTG	0.622000														116			22		0	0	0.003330	0	0
RYR3	6263	broad.mit.edu	37	15	33765704	33765704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:33765704C>T	uc001zhi.3	+	1	206	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	RYR3_uc010bar.3_Missense_Mutation_p.R46C	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	46					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACTTGGGAATCGCCTGTGCTT	0.547000														45			7		0	0	0.003080	0	0
ENPP1	5167	broad.mit.edu	37	6	132201143	132201143	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:132201143C>T	uc011ecf.2	+	19	2089	c.2069C>T	c.(2068-2070)cCc>cTc	p.P690L		NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	690	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	ATCTTAATGCCCCTTTGGACA	0.403000														95			8		0	0	0.004482	0	0
CLN3	1201	broad.mit.edu	37	16	28493843	28493843	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:28493843G>A	uc002dpo.3	-	10	1184	c.861C>T	c.(859-861)ccC>ccT	p.P287P	NPIPL1_uc010vct.2_Intron|CLN3_uc002dpl.3_Silent_p.P209P|CLN3_uc002dpm.3_Silent_p.P233P|CLN3_uc010vcu.2_Silent_p.P187P|CLN3_uc010vcv.2_Silent_p.P263P|CLN3_uc002dpp.3_Silent_p.P287P|CLN3_uc021tfs.1_Silent_p.P134P|CLN3_uc002dpt.1_Silent_p.P187P|CLN3_uc002dpq.1_Silent_p.P239P|CLN3_uc010bye.1_Intron|CLN3_uc002dpr.1_Non-coding_Transcript|CLN3_uc010byf.1_Non-coding_Transcript|CLN3_uc002dps.1_Silent_p.P160P|CLN3_uc002dpu.1_Silent_p.P185P|CLN3_uc002dpw.1_Silent_p.P134P|CLN3_uc010vcw.1_Silent_p.P233P|CLN3_uc002dqa.2_Missense_Mutation_p.P365L|CLN3_uc010vcx.1_Missense_Mutation_p.P214L|CLN3_uc002dpx.1_Silent_p.P164P|CLN3_uc002dpy.1_Silent_p.P131P	NM_000086	NP_001035897	Q13286	CLN3_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA.	287					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	Golgi membrane|Golgi stack|autophagic vacuole|caveola|cytosol|early endosome|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						CTACGACCAAGGGAACAATGT	0.562000														38			5		0	0	0.000602	0	0
DNAJC5G	285126	broad.mit.edu	37	2	27500810	27500810	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:27500810G>A	uc002rjl.1	+	3	720	c.302G>A	c.(301-303)gGa>gAa	p.G101E	SLC30A3_uc010ylh.2_5'Flank|DNAJC5G_uc010yli.1_Intron|DNAJC5G_uc002rjm.1_Missense_Mutation_p.G101E	NM_173650	NP_775921	Q8N7S2	DNJ5G_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 gamma (DNAJC5G), mRNA.	101					protein folding	membrane	heat shock protein binding|unfolded protein binding			cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCTCATTGGGAATATATCTG	0.403000														57			18		0	0	0.006122	0	0
AGAP4	119016	broad.mit.edu	37	10	46321385	46321385	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:46321385C>T	uc001jcx.4	-	6	2096	c.1970G>A	c.(1969-1971)gGc>gAc	p.G657D	AGAP4_uc021pps.1_Missense_Mutation_p.G657D|AGAP4_uc010qfl.2_Missense_Mutation_p.G680D|AGAP4_uc001jcy.4_Missense_Mutation_p.G572D|DQ588224_uc010qfm.1_5'Flank	NM_133446	NP_597703	Q96P64	AGAP4_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 (AGAP4), mRNA.	657					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)|lung(1)|ovary(1)	3						GTCGGGGCAGCCGTACTGCAG	0.522000														125			19		0	0	0.004656	0	0
UNC79	57578	broad.mit.edu	37	14	94120324	94120324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:94120324G>A	uc001ybv.1	+	35	5970	c.5887G>A	c.(5887-5889)Gac>Aac	p.D1963N	UNC79_uc001ybs.1_Missense_Mutation_p.D1941N	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2118						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						GTCTCTGATGGACTTCAATGA	0.512000														141			14		0	0	0.004007	0	0
TCL1B	9623	broad.mit.edu	37	14	96157638	96157638	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:96157638C>T	uc001yfa.3	+	2	418	c.367C>T	c.(367-369)Cag>Tag	p.Q123*	TCL1B_uc021sbi.1_Non-coding_Transcript|TCL1B_uc001yew.3_Non-coding_Transcript|TCL1B_uc001yex.3_Non-coding_Transcript|TCL1B_uc010avj.3_Non-coding_Transcript|TCL1B_uc001yez.3_Nonsense_Mutation_p.Q123*	NM_004918	NP_004909	O95988	TCL1B_HUMAN	Homo sapiens T-cell leukemia/lymphoma 1B (TCL1B), transcript variant 1, mRNA.	123										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CCTAACATATCAGCCGGAGAG	0.552000														48			7		0	0	0.003080	0	0
TTC18	118491	broad.mit.edu	37	10	75072273	75072273	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:75072273C>T	uc009xrc.3	-	10	1372	c.1251G>A	c.(1249-1251)gtG>gtA	p.V417V	TTC18_uc001jty.3_Silent_p.V417V|TTC18_uc009xrd.1_Silent_p.V225V	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	417							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CCTTTTCTTTCACTGGTTTAT	0.383000														65			8		0	0	0.006214	0	0
SV2A	9900	broad.mit.edu	37	1	149884923	149884923	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:149884923C>T	uc001etg.3	-	1	961	c.470G>A	c.(469-471)cGg>cAg	p.R157Q	SV2A_uc001eth.2_Missense_Mutation_p.R157Q	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	157					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GCCACACTCCCGTAGGATGGC	0.617000														45			9		0	0	0.008291	0	0
OR11H6	122748	broad.mit.edu	37	14	20692782	20692782	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:20692782C>T	uc010tlc.2	+	0	914	c.914C>T	c.(913-915)cCc>cTc	p.P305L		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TTCTTAAATCCCCTTATCTAT	0.418000														65			12		0	0	0.010729	0	0
SLFN11	91607	broad.mit.edu	37	17	33690647	33690647	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:33690647C>T	uc002hjg.4	-	1	427	c.180G>A	c.(178-180)gtG>gtA	p.V60V	SLFN11_uc010ctr.3_Silent_p.V60V|SLFN11_uc010ctp.3_Silent_p.V60V|SLFN11_uc010ctq.3_Silent_p.V60V|SLFN11_uc002hjh.4_Silent_p.V60V	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	60						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCATTCGAATCACTCCTCCTC	0.448000														98			16		0	0	0.006122	0	0
MOGAT3	346606	broad.mit.edu	37	7	100839531	100839531	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:100839531G>A	uc003uyc.3	-	5	975	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	MOGAT3_uc010lhr.3_Intron	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.	270					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					AAGAGACCGCGACCCCAGAAG	0.607000														14			3		0	0	0.004672	0	0
AACS	65985	broad.mit.edu	37	12	125621227	125621227	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:125621227G>A	uc001uhc.3	+	16	1904	c.1698G>A	c.(1696-1698)gtG>gtA	p.V566V	AACS_uc001uhd.3_Intron|AACS_uc009zyh.3_Non-coding_Transcript|AACS_uc009zyi.3_Silent_p.V164V	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	566					fatty acid metabolic process	cytosol	ATP binding|acetoacetate-CoA ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TCGAGGAGGTGGAGGACAGCC	0.612000														26			5		0	0	0.001168	0	0
RPL13A	23521	broad.mit.edu	37	19	49993749	49993749	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:49993749C>T	uc002pny.3	+	3	194	c.172C>T	c.(172-174)Ctc>Ttc	p.L58F	RPL13A_uc002pnz.3_5'UTR|SNORD33_uc010emz.1_5'Flank|SNORD34_uc010ena.1_5'Flank|SNORD35A_uc010enb.1_5'Flank	NM_012423	NP_036555	P40429	RL13A_HUMAN	Homo sapiens ribosomal protein L13a (RPL13A), mRNA.	58					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CCTGGCTTTCCTCCGCAAGCG	0.637000														30			9		0	0	0.008291	0	0
KIAA1468	57614	broad.mit.edu	37	18	59972714	59972714	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr18:59972714C>T	uc002lil.3	+	28	3813	c.3598C>T	c.(3598-3600)Cag>Tag	p.Q1200*	KIAA1468_uc010xel.2_Nonsense_Mutation_p.Q1200*|KIAA1468_uc002lim.3_Nonsense_Mutation_p.Q878*	NM_020854	NP_065905	Q9P260	K1468_HUMAN	Homo sapiens KIAA1468 (KIAA1468), mRNA.	1200							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CAAAATGGGCCAGTTGACAAC	0.403000														78			12		0	0	0.001855	0	0
NFIB	4781	broad.mit.edu	37	9	14146711	14146711	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:14146711C>T	uc022bdo.1	-	5	1437	c.902G>A	c.(901-903)cGa>cAa	p.R301Q	NFIB_uc003zld.3_Missense_Mutation_p.R49Q|NFIB_uc003zlf.3_Missense_Mutation_p.R301Q|NFIB_uc003zle.3_Missense_Mutation_p.R301Q|NFIB_uc022bdp.1_Missense_Mutation_p.R327Q|NFIB_uc011lmo.2_Missense_Mutation_p.R301Q	NM_001190737	NP_001177666	O00712	NFIB_HUMAN	Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA.	301					Clara cell differentiation|DNA replication|Type I pneumocyte differentiation|Type II pneumocyte differentiation|anterior commissure morphogenesis|chondrocyte differentiation|commissural neuron axon guidance|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GTGCCATGTTCGACTTCCAGC	0.413000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""									84			7		0	0	0.003080	0	0
STEAP2	261729	broad.mit.edu	37	7	89856353	89856353	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:89856353C>T	uc010len.3	+	3	1067	c.561C>T	c.(559-561)ttC>ttT	p.F187F	STEAP2_uc003ujy.2_Silent_p.F229F|STEAP2_uc003uka.3_Silent_p.F187F|STEAP2_uc003ujz.3_Silent_p.F187F|STEAP2_uc003ukc.3_Silent_p.F187F|STEAP2_uc003ukb.3_Silent_p.F187F|STEAP2_uc003ukd.3_Silent_p.F187F	NM_001244944	NP_001231873	Q8NFT2	STEA2_HUMAN	Homo sapiens STEAP family member 2, metalloreductase (STEAP2), transcript variant 4, mRNA.	187					Golgi to plasma membrane transport|electron transport chain|endocytosis|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					AGTTGAATTTCATTCCCATTG	0.423000														68			12		0	0	0.002450	0	0
FMN2	56776	broad.mit.edu	37	1	240370352	240370352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:240370352C>T	uc010pye.2	+	5	2477	c.2252C>T	c.(2251-2253)tCc>tTc	p.S751F	FMN2_uc010pyd.2_Missense_Mutation_p.S747F	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	747					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATACAGACTTCCCCCACGGAA	0.572000														13			3		0	0	0.004672	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996025	19996025	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr18:19996025G>A	uc002ktv.1	-	0	1854	c.1750C>T	c.(1750-1752)Cct>Tct	p.P584S		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	584						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GCTGAATCAGGATATGATTGT	0.478000														52			5		0	0	0.000602	0	0
ZFAT	57623	broad.mit.edu	37	8	135649738	135649738	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:135649738G>A	uc003yup.3	-	2	600	c.414C>T	c.(412-414)atC>atT	p.I138I	ZFAT_uc003yun.3_Silent_p.I126I|ZFAT_uc003yuo.3_Silent_p.I126I|ZFAT_uc010meh.3_Silent_p.I126I|ZFAT_uc010mej.3_Silent_p.I138I|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.I126I|ZFAT_uc003yur.3_Silent_p.I126I	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AATTCAGCACGATAATGCAGA	0.507000														72			13		0	0	0.001855	0	0
C1S	716	broad.mit.edu	37	12	7177387	7177387	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:7177387C>T	uc001qsj.3	+	14	2218	c.1499C>T	c.(1498-1500)tCc>tTc	p.S500F	C1S_uc001qsk.3_Missense_Mutation_p.S500F|C1S_uc001qsl.3_Missense_Mutation_p.S500F|C1S_uc009zfr.3_Missense_Mutation_p.S333F|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	500	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	CTGGCAAAATCCAAGATGCTC	0.512000														23			6		0	0	0.001984	0	0
AIPL1	23746	broad.mit.edu	37	17	6338369	6338369	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:6338369C>T	uc002gcp.3	-	0	151	c.56G>A	c.(55-57)gGg>gAg	p.G19E	AIPL1_uc021toq.1_5'UTR|AIPL1_uc002gcq.3_Missense_Mutation_p.G19E|AIPL1_uc002gcr.3_Missense_Mutation_p.G19E|AIPL1_uc010clk.3_Missense_Mutation_p.G19E|AIPL1_uc010cll.3_Missense_Mutation_p.G19E|AIPL1_uc021tor.1_Missense_Mutation_p.G19E|AIPL1_uc002gcs.3_Missense_Mutation_p.G19E	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	Homo sapiens aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), transcript variant 1, mRNA.	19					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		GCCCGTGCCCCCGTGCAGAAT	0.602000														24			7		0	0	0.004482	0	0
ABCB11	8647	broad.mit.edu	37	2	169870007	169870007	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:169870007G>A	uc002ueo.1	-	4	290	c.164C>T	c.(163-165)tCa>tTa	p.S55L		NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	55					bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GTCAGTTGATGAAGAAAACCG	0.418000														61			10		0	0	0.006214	0	0
PLXNC1	10154	broad.mit.edu	37	12	94641880	94641880	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:94641880C>T	uc001tdc.3	+	12	2839	c.2590C>T	c.(2590-2592)Caa>Taa	p.Q864*		NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	864					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGTGAAAATTCAAGTATGTTT	0.498000														29			5		0	0	0.000602	0	0
NRG2	9542	broad.mit.edu	37	5	139267057	139267057	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:139267057C>T	uc003lev.2	-	1	970	c.740G>A	c.(739-741)gGa>gAa	p.G247E	NRG2_uc003lew.2_Missense_Mutation_p.G247E|NRG2_uc003lex.2_Missense_Mutation_p.G247E|NRG2_uc003ley.2_Missense_Mutation_p.G247E|NRG2_uc021yed.1_Missense_Mutation_p.G247E	NM_013982	NP_053585	O14511	NRG2_HUMAN	Homo sapiens neuregulin 2 (NRG2), transcript variant 3, mRNA.	247	Ig-like C2-type.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	p.T246M(2)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCACCTGTCCCGTCTGGCT	0.587000														23			13		0	0	0.001855	0	0
TNXB	7148	broad.mit.edu	37	6	32053803	32053803	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:32053803G>T	uc003nzl.2	-	6	3074	c.2872C>A	c.(2872-2874)Cag>Aag	p.Q958K		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1045	Fibronectin type-III 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGGGGGCGCTGCTGCAGGAGA	0.667000														149			58		1.72845e-40	1.84431e-40	0.014410	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274238	39274238	+	Silent	SNP	A	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:39274238A>G	uc002hvz.3	-	0	369	c.330T>C	c.(328-330)tgT>tgC	p.C110C		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	110	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agctggggcgacagcagctgg	0.652000														20			5		0	0	0.001984	0	0
MYO18B	84700	broad.mit.edu	37	22	26423285	26423285	+	Missense_Mutation	SNP	C	T	T	rs149103381	by1000genomes	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr22:26423285C>T	uc003abz.1	+	42	7595	c.7345C>T	c.(7345-7347)Cgg>Tgg	p.R2449W	MYO18B_uc003aca.1_Missense_Mutation_p.R2330W|MYO18B_uc010guy.1_Missense_Mutation_p.R2331W|MYO18B_uc010guz.1_Missense_Mutation_p.R2329W|MYO18B_uc011aka.1_Missense_Mutation_p.R1603W|MYO18B_uc011akb.1_Missense_Mutation_p.R1962W|MYO18B_uc010gva.1_Missense_Mutation_p.R432W|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2449						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCCAGCTATCCGGAAGCCCCA	0.552000														82			10		0	0	0.008291	0	0
DNAH7	56171	broad.mit.edu	37	2	196681677	196681677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:196681677C>T	uc002utj.4	-	50	9537	c.9436G>A	c.(9436-9438)Gaa>Aaa	p.E3146K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3146	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E3146K(2)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTTCTATTTCTTTTAACTGC	0.294000														18			5		0	0	0.000602	0	0
AKAP9	10142	broad.mit.edu	37	7	91646386	91646386	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:91646386A>T	uc003ulg.3	+	11	4032	c.3807A>T	c.(3805-3807)aaA>aaT	p.K1269N	AKAP9_uc003ule.2_Missense_Mutation_p.K1281N|AKAP9_uc003ulf.3_Missense_Mutation_p.K1269N|AKAP9_uc003uli.3_Missense_Mutation_p.K894N	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1281					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AATACAACAAACTCTTGGTAC	0.313000			T	BRAF	papillary thyroid									8			4		0	0	0.009096	0	0
DNAJC6	9829	broad.mit.edu	37	1	65849957	65849957	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:65849957C>T	uc001dce.1	+	5	949	c.748C>T	c.(748-750)Cga>Tga	p.R250*	DNAJC6_uc001dcc.1_Nonsense_Mutation_p.R224*|DNAJC6_uc001dcd.1_Nonsense_Mutation_p.R193*|DNAJC6_uc010opc.1_Nonsense_Mutation_p.R180*	NM_014787	NP_055602	O75061	AUXI_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA.	193	C2 tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	SH3 domain binding|heat shock protein binding|protein tyrosine phosphatase activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CCCAGCCATTCGATTGCTATA	0.448000														43			12		0	0	0.013537	0	0
OR56A3	390083	broad.mit.edu	37	11	5969142	5969142	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:5969142C>T	uc010qzt.2	+	0	566	c.566C>T	c.(565-567)tCc>tTc	p.S189F		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGTCTGTTTCCAGACTCTCC	0.463000														40			24		0	0	0.002780	0	0
DHX15	1665	broad.mit.edu	37	4	24543549	24543549	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:24543549G>A	uc003gqx.3	-	7	1600	c.1432C>T	c.(1432-1434)Cct>Tct	p.P478S	DHX15_uc003gqw.3_5'Flank	NM_001358	NP_001349	O43143	DHX15_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 15 (DHX15), mRNA.	478	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CATTTTCCAGGTCTGGTACGT	0.428000														36			12		0	0	0.001855	0	0
C1QB	713	broad.mit.edu	37	1	22987512	22987512	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:22987512T>A	uc001bgd.3	+	2	527	c.395T>A	c.(394-396)gTc>gAc	p.V132D		NM_000491	NP_000482	P02746	C1QB_HUMAN	Homo sapiens complement component 1, q subcomponent, B chain (C1QB), mRNA.	132	C1q.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACCATCAACGTCCCCCTGCGC	0.607000														90			10		0	0	0.013537	0	0
B3GALNT1	8706	broad.mit.edu	37	3	160803699	160803699	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:160803699G>A	uc003fdv.3	-	4	1263	c.844C>T	c.(844-846)Cat>Tat	p.H282Y	B3GALNT1_uc003fdw.3_Missense_Mutation_p.H282Y|B3GALNT1_uc003fdx.3_Missense_Mutation_p.H282Y|B3GALNT1_uc003fdy.3_Missense_Mutation_p.H282Y|B3GALNT1_uc003fdz.3_Missense_Mutation_p.H282Y|B3GALNT1_uc003fea.3_Missense_Mutation_p.H282Y|B3GALNT1_uc011bpa.2_Intron|B3GALNT1_uc021xgw.1_Missense_Mutation_p.H282Y	NM_033169	NP_149359	O75752	B3GL1_HUMAN	Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) (B3GALNT1), transcript variant 4, mRNA.	282					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			TCTGGAATATGAATGTTCACT	0.373000														18			8		0	0	0.003080	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369460	86369460	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:86369460C>T	uc001vll.1	-	1	1643	c.1184G>A	c.(1183-1185)gGa>gAa	p.G395E	SLITRK6_uc021rla.1_Missense_Mutation_p.G395E	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	395						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ACGATTGTTTCCCAAGTGAAG	0.348000														30			6		0	0	0.001168	0	0
CHD5	26038	broad.mit.edu	37	1	6194187	6194187	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:6194187C>T	uc001amb.2	-	20	3255	c.3144_splice	c.e20+1	p.Q1048_splice	CHD5_uc001alz.2_5'Flank|CHD5_uc001ama.2_Splice_Site|CHD5_uc001amc.1_Splice_Site	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1048	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGGCAGCGCACCTGGGAGAAG	0.637000														40			7		0	0	0.001984	0	0
GRIA4	2893	broad.mit.edu	37	11	105769100	105769100	+	Missense_Mutation	SNP	C	T	T	rs151104343	byFrequency	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:105769100C>T	uc001pix.2	+	6	1278	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	GRIA4_uc001piu.1_Missense_Mutation_p.R278C|GRIA4_uc001piw.2_Missense_Mutation_p.R278C|GRIA4_uc009yxk.1_Missense_Mutation_p.R278C	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	278					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ACTAATGGATCGCTGGAAGAA	0.358000														17			3		0	0	0.000602	0	0
NCEH1	57552	broad.mit.edu	37	3	172353837	172353837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:172353837G>A	uc011bpx.2	-	3	736	c.598C>T	c.(598-600)Cat>Tat	p.H200Y	NCEH1_uc003fig.3_Missense_Mutation_p.H192Y|NCEH1_uc011bpw.2_Missense_Mutation_p.H27Y|NCEH1_uc011bpy.2_Missense_Mutation_p.H27Y	NM_001146276	NP_001139750	Q6PIU2	NCEH1_HUMAN	Homo sapiens neutral cholesterol ester hydrolase 1 (NCEH1), transcript variant 1, mRNA.	160					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						ACAACATCATGAATTTGCTCA	0.393000														66			17		0	0	0.007413	0	0
XYLT1	64131	broad.mit.edu	37	16	17221565	17221565	+	Silent	SNP	G	A	A	rs112238716		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:17221565G>A	uc002dfa.3	-	9	2266	c.2181C>T	c.(2179-2181)atC>atT	p.I727I		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	727					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTGGGCTTGCGATCTTGAAGA	0.493000														117			12		0	0	0.013537	0	0
COL19A1	1310	broad.mit.edu	37	6	70639420	70639420	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:70639420C>T	uc003pfc.1	+	5	611	c.494C>T	c.(493-495)cCt>cTt	p.P165L	COL19A1_uc010kam.2_Missense_Mutation_p.P61L	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	165	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.P165F(2)|p.P165L(2)|p.P165S(1)		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						GAACTCCGTCCTTTGTTTGAT	0.393000														36			21		0	0	0.012319	0	0
ADAM28	10863	broad.mit.edu	37	8	24199165	24199165	+	Nonsense_Mutation	SNP	G	A	A	rs141747646		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:24199165G>A	uc003xdy.3	+	15	1808	c.1725G>A	c.(1723-1725)tgG>tgA	p.W575*	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Nonsense_Mutation_p.W262*	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	575	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATTTGCCCTGGAAAGGACGGA	0.423000														130			15		0	0	0.003163	0	0
SVEP1	79987	broad.mit.edu	37	9	113208295	113208295	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:113208295C>T	uc010mtz.3	-	25	4622	c.4285G>A	c.(4285-4287)Gat>Aat	p.D1429N	SVEP1_uc010mua.1_Missense_Mutation_p.D1429N	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1429					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACTTCAAAATCCAGGTTAAAG	0.433000														9			5		0	0	0.001168	0	0
HEG1	57493	broad.mit.edu	37	3	124739810	124739810	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:124739810G>A	uc011bke.2	-	3	1146	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S	HEG1_uc003ehs.4_Missense_Mutation_p.P360S	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	340						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GAGTCCTTGGGGAAGCCTTCT	0.522000														32			5		0	0	0.001168	0	0
HEATR8	374977	broad.mit.edu	37	1	55167774	55167774	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:55167774C>T	uc010ooe.1	+	19	3621	c.3297C>T	c.(3295-3297)gtC>gtT	p.V1099V	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ood.1_Silent_p.V617V|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Silent_p.V301V	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	1099				V -> D (in Ref. 2; CAH18687, 1; BAC87334 and 4; AAH29191).		integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CACGAGAGGTCGTGCGCTCCT	0.612000														34			6		0	0	0.004482	0	0
MYO1A	4640	broad.mit.edu	37	12	57424050	57424050	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:57424050C>T	uc001smw.4	-	23	2775	c.2535G>A	c.(2533-2535)agG>agA	p.R845R	MYO1A_uc010sqz.2_Silent_p.R683R|MYO1A_uc009zpd.3_Silent_p.R845R	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	845					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.R845R(2)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AGAGCTTTTCCCTCAGGATCT	0.572000														45			12		0	0	0.013537	0	0
C17orf70	80233	broad.mit.edu	37	17	79517272	79517272	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:79517272A>G	uc002kaq.3	-	3	1319	c.1246_splice	c.e3+1	p.G416_splice	C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_Intron|C17orf70_uc002kap.3_Splice_Site_p.G265_splice	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.	416					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			AGCAGCTCATACCTTCATGCG	0.592000														64			35		0	0	0.006230	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129019852	129019852	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:129019852G>A	uc003kvb.1	+	17	2686	c.2686G>A	c.(2686-2688)Gaa>Aaa	p.E896K	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	896	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TCTTCACTATGAATACACTAT	0.453000														46			13		0	0	0.001855	0	0
OR10G4	390264	broad.mit.edu	37	11	123886770	123886770	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:123886770C>T	uc010sac.2	+	0	489	c.489C>T	c.(487-489)ttC>ttT	p.F163F		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TATTGACTTTCCATTTGCCCT	0.577000														53			18		0	0	0.003755	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261615	21261615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:21261615C>T	uc010bwp.1	+	1	771	c.728C>T	c.(727-729)tCa>tTa	p.S243L	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.	243										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		GACTCGTTCTCAGGGGACTTC	0.488000														64			6		0	0	0.001984	0	0
AGL	178	broad.mit.edu	37	1	100357264	100357264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:100357264C>T	uc001dsi.1	+	22	3452	c.3052C>T	c.(3052-3054)Ctt>Ttt	p.L1018F	AGL_uc001dsj.1_Missense_Mutation_p.L1018F|AGL_uc001dsk.1_Missense_Mutation_p.L1018F|AGL_uc001dsl.1_Missense_Mutation_p.L1018F|AGL_uc001dsm.1_Missense_Mutation_p.L1002F|AGL_uc001dsn.1_Missense_Mutation_p.L1001F	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	1018					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		ATATACCACTCTTCTGGATAC	0.388000														72			10		0	0	0.006214	0	0
LY9	4063	broad.mit.edu	37	1	160786540	160786540	+	Nonsense_Mutation	SNP	C	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:160786540C>G	uc001fwu.3	+	4	1279	c.1229C>G	c.(1228-1230)tCa>tGa	p.S410*	LY9_uc001fwv.3_Nonsense_Mutation_p.S410*|LY9_uc001fww.3_Intron|LY9_uc001fwy.1_Intron|LY9_uc001fwz.3_Nonsense_Mutation_p.S62*	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	410	Ig-like C2-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CAAGGGGAATCACACCTCAAT	0.547000														48			10		0	0	0.008291	0	0
PTAFR	5724	broad.mit.edu	37	1	28477268	28477268	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:28477268G>A	uc009vte.3	-	2	600	c.265C>T	c.(265-267)Ctg>Ttg	p.L89L	PTAFR_uc021ojz.1_Silent_p.L89L|PTAFR_uc001bpl.3_Silent_p.L89L|PTAFR_uc001bpm.4_Silent_p.L89L|PTAFR_uc021oka.1_Silent_p.L89L	NM_001164721	NP_001158195	P25105	PTAFR_HUMAN	Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA.	89					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		ACGTTGCACAGGAATTTGGGG	0.527000														40			9		0	0	0.006214	0	0
PURG	29942	broad.mit.edu	37	8	30889602	30889602	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:30889602G>A	uc003xin.3	-	0	716	c.697C>T	c.(697-699)Cgt>Tgt	p.R233C	WRN_uc003xio.4_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.R233C	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	Homo sapiens purine-rich element binding protein G (PURG), transcript variant A, mRNA.	233						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		AAGGCATCACGAAACTCAATC	0.498000														51			13		0	0	0.003163	0	0
OR6A2	8590	broad.mit.edu	37	11	6816144	6816144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:6816144G>A	uc001mes.1	-	0	996	c.796C>T	c.(796-798)Cgg>Tgg	p.R266W		NM_003696	NP_003687	O95222	OR6A2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily A, member 2 (OR6A2), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R266W(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCCTTTGGCCGAGCATAGATG	0.473000														56			12		0	0	0.010729	0	0
LHCGR	3973	broad.mit.edu	37	2	48950671	48950671	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:48950671C>T	uc002rwu.4	-	6	529	c.459_splice	c.e6-1	p.L153_splice	STON1-GTF2A1L_uc021vhf.1_Intron|LHCGR_uc002rwv.2_Splice_Site	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	153					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TCACAAATTTCCCTTGAGGAA	0.338000														20			33		0	0	0.013726	0	0
DCHS2	54798	broad.mit.edu	37	4	155155827	155155827	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:155155827G>A	uc003inw.2	-	24	8612	c.8612C>T	c.(8611-8613)cCc>cTc	p.P2871L		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2871					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGAAAAATTGGGAGTCATGCC	0.517000														103			15		0	0	0.003163	0	0
ADORA1	134	broad.mit.edu	37	1	203134932	203134932	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:203134932C>T	uc010pqh.1	+	2	1021	c.984C>T	c.(982-984)ttC>ttT	p.F328F	ADORA1_uc001gzf.1_Silent_p.F295F|ADORA1_uc001gze.1_Silent_p.F295F|ADORA1_uc010pqg.1_Silent_p.F227F|ADORA1_uc009xak.1_Missense_Mutation_p.P221S	NM_001048230	NP_001041695	P30542	AA1R_HUMAN	Homo sapiens adenosine A1 receptor (ADORA1), transcript variant 2, mRNA.	295					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TCCAGAAGTTCCGCGTCACCT	0.552000														40			7		0	0	0.001984	0	0
CCDC148	130940	broad.mit.edu	37	2	159035451	159035451	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:159035451G>A	uc002tzq.3	-	11	1742	c.1428C>T	c.(1426-1428)gcC>gcT	p.A476A	CCDC148_uc002tzr.3_Silent_p.A324A|CCDC148_uc010foh.3_Silent_p.A189A|LOC554201_uc021vro.1_Intron	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.	476								p.V475L(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTTCTTGAAGGGCCACTTCCT	0.378000														37			12		0	0	0.013537	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24946942	24946942	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:24946942G>A	uc002dnb.3	-	17	1836	c.1743C>T	c.(1741-1743)gaC>gaT	p.D581D	ARHGAP17_uc002dmy.3_Silent_p.D26D|ARHGAP17_uc002dmz.3_Silent_p.D105D|ARHGAP17_uc002dna.3_Silent_p.D308D|ARHGAP17_uc002dnc.3_Silent_p.D503D|ARHGAP17_uc010vcf.2_Silent_p.D324D	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.	581	Pro-rich.				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)		CAGATACAGGGTCCTTCGGTT	0.493000														38			5		0	0	0.003080	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73022436	73022436	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:73022436T>C	uc001otu.3	+	0	2774	c.2753T>C	c.(2752-2754)aTc>aCc	p.I918T		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	918					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCGAGGCTAATCCGCCGAGGC	0.637000														53			14		0	0	0.002450	0	0
BSN	8927	broad.mit.edu	37	3	49695059	49695059	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:49695059C>T	uc003cxe.4	+	4	8184	c.8070C>T	c.(8068-8070)atC>atT	p.I2690I		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2690					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCATCCACATCACAGCTGCCA	0.632000														43			9		0	0	0.004482	0	0
SLC22A10	387775	broad.mit.edu	37	11	63129941	63129941	+	RNA	SNP	G	A	A	rs148177936	by1000genomes	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:63129941G>A	uc010rmo.1	+	8		c.1063G>A						Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.							integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGCTGGAATAGAATGAAGAAT	0.448000														12			5		0	0	0.001168	0	0
FAM198B	51313	broad.mit.edu	37	4	159092232	159092233	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:159092232_159092233CC>TT	uc003ipq.4	-	1	702_703	c.295_296GG>AA	c.(295-297)ggg>AAg	p.G99K	AK096792_uc003ipu.1_5'Flank|FAM198B_uc003ipp.4_Missense_Mutation_p.G99K|FAM198B_uc003ipr.4_Missense_Mutation_p.G99K|FAM198B_uc003ips.3_Missense_Mutation_p.G99K|AK126266_uc003ipt.1_Non-coding_Transcript	NM_001031700	NP_001026870	Q6UWH4	F198B_HUMAN	Homo sapiens family with sequence similarity 198, member B (FAM198B), transcript variant 1, mRNA.	99						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CAGAGTGGACCCATTGCCCTGG	0.624000														68			12		0	0	0.004672	0	0
CACNA1C	775	broad.mit.edu	37	12	2224708	2224708	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:2224708G>A	uc009zdu.1	+	1	681	c.368G>A	c.(367-369)tGg>tAg	p.W123*	CACNA1C_uc001qkc.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qjz.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qkd.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qke.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qkf.2_Nonsense_Mutation_p.W123*|CACNA1C_uc009zdw.1_Nonsense_Mutation_p.W123*|CACNA1C_uc001qkg.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qkh.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qkl.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qkj.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qkk.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qkn.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qkm.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qko.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qkp.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qkq.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qku.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qkr.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qks.2_Nonsense_Mutation_p.W123*|CACNA1C_uc001qkt.2_Nonsense_Mutation_p.W123*|CACNA1C_uc009zdv.1_Nonsense_Mutation_p.W123*|CACNA1C_uc001qkb.2_Nonsense_Mutation_p.W123*	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	123					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ATTGTCGAATGGAAATATCCT	0.647000														24			3		0	0	0.009096	0	0
KCNT2	343450	broad.mit.edu	37	1	196395070	196395070	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:196395070G>A	uc001gtd.1	-	10	1093	c.1033C>T	c.(1033-1035)Cga>Tga	p.R345*	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Nonsense_Mutation_p.R345*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.R345*|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Nonsense_Mutation_p.R345*|KCNT2_uc009wyv.1_Nonsense_Mutation_p.R320*	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	345						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AGTACCCTTCGAACCTGTACA	0.383000														27			9		0	0	0.008291	0	0
NOBOX	135935	broad.mit.edu	37	7	144098647	144098647	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:144098647C>T	uc022aoj.1	-	3	336	c.336G>A	c.(334-336)gaG>gaA	p.E112E		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	112					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	p.G111E(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GCAGTTCCTCCTCCCCGGGTC	0.617000														47			8		0	0	0.003080	0	0
DCDC5	100506627	broad.mit.edu	37	11	30953328	30953328	+	Missense_Mutation	SNP	G	A	A	rs150997514	byFrequency	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:30953328G>A	uc009yjk.1	-	9	1300	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	DCDC5_uc021qfk.1_Missense_Mutation_p.R70W|DCDC5_uc009yjl.1_3'UTR	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	42					intracellular signal transduction			p.R42W(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						TGCGTTTTCCGTCCAGGTGAG	0.378000														18			7		0	0	0.003080	0	0
TCHH	7062	broad.mit.edu	37	1	152080273	152080273	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:152080273C>T	uc009wne.1	-	2	5692	c.5420G>A	c.(5419-5421)aGg>aAg	p.R1807K	TCHH_uc001ezp.2_Missense_Mutation_p.R1807K	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1807	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.R1807M(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTTCTTCCCTCTCCTGGCG	0.602000														59			10		0	0	0.010729	0	0
EXOC2	55770	broad.mit.edu	37	6	599152	599152	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:599152A>T	uc003mtd.3	-	7	950	c.816T>A	c.(814-816)aaT>aaA	p.N272K	EXOC2_uc003mte.3_Missense_Mutation_p.N272K|EXOC2_uc011dho.2_Intron	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Homo sapiens exocyst complex component 2 (EXOC2), mRNA.	272					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CATTGAGTGCATTTCTAGTGG	0.333000														141			16		0	0	0.008871	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117774375	117774375	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:117774375T>A	uc001prs.2	-	11	1818	c.1672A>T	c.(1672-1674)Atg>Ttg	p.M558L	TMPRSS13_uc009yzr.2_Missense_Mutation_p.M523L|TMPRSS13_uc021qrc.1_Missense_Mutation_p.M558L|TMPRSS13_uc001prt.1_Missense_Mutation_p.M237L	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	Homo sapiens transmembrane protease, serine 13 (TMPRSS13), transcript variant 1, mRNA.	553					proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CTTACCTCCATCTTGCTGTAA	0.582000														29			20		0	0	0.003330	0	0
SCN1A	6323	broad.mit.edu	37	2	166892769	166892769	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:166892769A>C	uc002udo.4	-	17	3445	c.3218T>G	c.(3217-3219)cTt>cGt	p.L1073R	SCN1A_uc010fpk.3_Missense_Mutation_p.L1045R|SCN1A_uc021vsb.1_Missense_Mutation_p.L1062R	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1073						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S1073T(1)|p.T1072I(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAGATAGTCAAGATCTTTCCC	0.318000														37			6		0	0	0.001168	0	0
OR5H15	403274	broad.mit.edu	37	3	97888470	97888470	+	Silent	SNP	T	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:97888470T>A	uc011bgu.2	+	0	927	c.927T>A	c.(925-927)gtT>gtA	p.V309V		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						AAAGAAATGTTAAGGTTTCAT	0.289000														20			14		0	0	0.004007	0	0
PCLO	27445	broad.mit.edu	37	7	82585486	82585486	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:82585486C>T	uc003uhx.2	-	4	5072	c.4783G>A	c.(4783-4785)Gaa>Aaa	p.E1595K	PCLO_uc003uhv.2_Missense_Mutation_p.E1595K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1526					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						TTTGTTTCTTCCTTCTTCTGG	0.428000														153			20		0	0	0.008871	0	0
CHD6	84181	broad.mit.edu	37	20	40053932	40053932	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:40053932T>C	uc002xka.1	-	28	4410	c.4232A>G	c.(4231-4233)aAg>aGg	p.K1411R		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	1411					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GCACAGTTCCTTGCGGTTGCA	0.547000														49			7		0	0	0.001984	0	0
YLPM1	56252	broad.mit.edu	37	14	75266252	75266252	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:75266252G>A	uc001xqj.4	+	4	4376	c.4252G>A	c.(4252-4254)Gaa>Aaa	p.E1418K	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCCCATGGCGGAACATATGCC	0.498000														152			17		0	0	0.006122	0	0
PCLO	27445	broad.mit.edu	37	7	82585034	82585034	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:82585034C>T	uc003uhx.2	-	4	5524	c.5235G>A	c.(5233-5235)ccG>ccA	p.P1745P	PCLO_uc003uhv.2_Silent_p.P1745P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1676					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						TTTTGTGACTCGGGCTACTGT	0.488000														141			10		0	0	0.008291	0	0
AOC2	314	broad.mit.edu	37	17	40997012	40997012	+	Silent	SNP	C	T	T	rs148771457	byFrequency	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:40997012C>T	uc002ibu.3	+	0	404	c.369C>T	c.(367-369)atC>atT	p.I123I	AOC2_uc002ibt.3_Silent_p.I123I	NM_009590	NP_033720	O75106	AOC2_HUMAN	Homo sapiens amine oxidase, copper containing 2 (retina-specific) (AOC2), transcript variant 2, mRNA.	123					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	p.I123T(1)|p.I123V(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CACTGGCCATCGTCCTCTTTG	0.662000														18			18		0	0	0.004990	0	0
MECOM	2122	broad.mit.edu	37	3	168810796	168810796	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:168810796G>A	uc011bpj.1	-	13	3517	c.3114C>T	c.(3112-3114)ttC>ttT	p.F1038F	MECOM_uc010hwk.1_Silent_p.F864F|MECOM_uc003ffj.3_Silent_p.F915F|MECOM_uc003ffi.3_Silent_p.F850F|MECOM_uc011bpi.1_Silent_p.F842F|MECOM_uc003ffn.3_Silent_p.F850F|MECOM_uc003ffk.2_Silent_p.F841F|MECOM_uc003ffl.2_Silent_p.F1001F|MECOM_uc011bpk.1_Silent_p.F850F	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGTTCCCAATGAAATTTCGAA	0.433000														50			15		0	0	0.003163	0	0
NDST3	9348	broad.mit.edu	37	4	118975722	118975722	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:118975722C>T	uc003ibx.3	+	1	1060	c.657C>T	c.(655-657)gaC>gaT	p.D219D	NDST3_uc011cgf.1_Silent_p.D219D|NDST3_uc003ibw.3_Silent_p.D219D	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	219	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.D219N(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTGGAACTGACTGGACAGTTT	0.373000														101			5		0	0	0.001984	0	0
VIPR1	7433	broad.mit.edu	37	3	42573337	42573337	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:42573337G>A	uc003clf.2	+	8	1018	c.894G>A	c.(892-894)aaG>aaA	p.K298K	VIPR1_uc021wwl.1_Silent_p.K257K|VIPR1_uc011azn.2_Silent_p.K271K|VIPR1_uc011azl.1_Silent_p.K250K|VIPR1_uc011azm.1_Silent_p.K88K|VIPR1_uc003clg.2_5'UTR	NM_004624	NP_001238811	P32241	VIPR1_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 1 (VIPR1), transcript variant 1, mRNA.	298					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		GGATCATAAAGGGCCCCATCC	0.567000														34			14		0	0	0.002450	0	0
PTPN5	84867	broad.mit.edu	37	11	18754841	18754841	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:18754841C>T	uc001mpd.3	-	10	1590	c.1159G>A	c.(1159-1161)Gtg>Atg	p.V387M	PTPN5_uc001mpb.3_Missense_Mutation_p.V355M|PTPN5_uc001mpc.3_Missense_Mutation_p.V387M|PTPN5_uc010rdj.2_Missense_Mutation_p.V331M|PTPN5_uc001mpf.3_Missense_Mutation_p.V363M|PTPN5_uc001mpe.3_Missense_Mutation_p.V355M|PTPN5_uc010rdk.2_Missense_Mutation_p.V332M	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	387	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TCCTGCCACACCATGCGCCAG	0.597000														68			21		0	0	0.012319	0	0
MMP2	4313	broad.mit.edu	37	16	55517950	55517950	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:55517950C>T	uc002ehz.4	+	2	714	c.403C>T	c.(403-405)Ctg>Ttg	p.L135L	MMP2_uc010vhd.2_Silent_p.L59L|MMP2_uc010ccc.3_Silent_p.L85L	NM_004530	NP_004521	P08253	MMP2_HUMAN	Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA.	135	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CACACCTGATCTGGACCCAGA	0.498000														55			8		0	0	0.004482	0	0
TNKS	8658	broad.mit.edu	37	8	9565929	9565929	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:9565929T>C	uc003wss.3	+	8	1510	c.1505T>C	c.(1504-1506)tTa>tCa	p.L502S	TNKS_uc011kwv.1_Missense_Mutation_p.L502S|TNKS_uc011kww.2_Missense_Mutation_p.L265S	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	502					Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GAAGCAGACTTAGCTAAAGTT	0.318000														62			6		0	0	0.001984	0	0
EYA4	2070	broad.mit.edu	37	6	133789870	133789870	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:133789870G>T	uc011ecs.2	+	10	1287	c.971G>T	c.(970-972)gGt>gTt	p.G324V	EYA4_uc011ecq.2_Splice_Site_p.G270_splice|EYA4_uc011ecr.2_Missense_Mutation_p.G270V|EYA4_uc003qec.4_Splice_Site_p.G324_splice|EYA4_uc003qed.4_Splice_Site_p.G324_splice|EYA4_uc003qee.4_Splice_Site_p.G301_splice|BC041459_uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	322					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.G324G(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AACCAACCAGGTACAGATCTT	0.433000														54			20		2.54575e-18	2.70451e-18	0.010504	1	0
FAM92A1	137392	broad.mit.edu	37	8	94722059	94722059	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:94722059G>A	uc022ayd.1	+	5	602	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	FAM92A1_uc022ayc.1_Silent_p.R167R|FAM92A1_uc003yfx.4_Non-coding_Transcript|FAM92A1_uc003yfw.4_Non-coding_Transcript|FAM92A1_uc010mar.3_Missense_Mutation_p.E12K	NM_145269	NP_660312	A1XBS5	F92A1_HUMAN	Homo sapiens family with sequence similarity 92, member A1 (FAM92A1), mRNA.	167										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCATCTGGAGGAAACTATTAA	0.338000														19			4		0	0	0.001168	0	0
AKAP14	158798	broad.mit.edu	37	X	119048716	119048716	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:119048716G>A	uc004ese.3	+	4	454	c.316G>A	c.(316-318)Gac>Aac	p.D106N	AKAP14_uc004esf.3_Intron	NM_178813	NP_848928	Q86UN6	AKA28_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 14 (AKAP14), transcript variant 1, mRNA.	106						cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						AGAGAGGAAAGACTTAATTCA	0.408000														34			15		0	0	0.004007	0	0
GLUD2	2747	broad.mit.edu	37	X	120181873	120181873	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:120181873G>A	uc004eto.3	+	0	412	c.335G>A	c.(334-336)tGc>tAc	p.C112Y		NM_012084	NP_036216	P49448	DHE4_HUMAN	Homo sapiens glutamate dehydrogenase 2 (GLUD2), nuclear gene encoding mitochondrial protein, mRNA.	112					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|GTP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	ATCAAGCCCTGCAACCATGTG	0.647000														9			6		0	0	0.001168	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99117471	99117471	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:99117471C>T	uc003uqv.3	+	3	699	c.575C>T	c.(574-576)cCt>cTt	p.P192L	ZKSCAN5_uc010lfx.3_Missense_Mutation_p.P192L|ZKSCAN5_uc003uqw.3_Missense_Mutation_p.P192L|ZKSCAN5_uc003uqx.3_Intron|ZKSCAN5_uc003uqy.3_5'UTR	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	192					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CTCCAAGTTCCTTCCCTTCCC	0.532000														65			13		0	0	0.006122	0	0
PZP	5858	broad.mit.edu	37	12	9345243	9345243	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:9345243G>A	uc001qvl.3	-	11	1376	c.1347C>T	c.(1345-1347)tcC>tcT	p.S449S	PZP_uc009zgl.3_Silent_p.S318S	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTCCACTTAAGGAGAAAACAC	0.498000														61			12		0	0	0.013537	0	0
STK31	56164	broad.mit.edu	37	7	23823225	23823225	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:23823225G>A	uc003sws.4	+	16	2158	c.2091G>A	c.(2089-2091)caG>caA	p.Q697Q	STK31_uc003swt.4_Silent_p.Q674Q|STK31_uc011jze.2_Silent_p.Q697Q|STK31_uc010kuq.3_Silent_p.Q674Q	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	697							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GTTTGGCACAGAAATGGTTCC	0.348000														89			16		0	0	0.008871	0	0
MDGA1	266727	broad.mit.edu	37	6	37606050	37606051	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:37606050_37606051CC>TT	uc003onu.1	-	15	3885_3886	c.2706_2707GG>AA	c.(2704-2709)ggggat>ggAAat	p.D903N	MDGA1_uc003onv.1_Missense_Mutation_p.D172N	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	903	MAM.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						ATGGCAATATCCCCCAGGTAGC	0.574000														25			7		0	0	0.004672	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208960	140208960	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:140208960G>A	uc003lho.2	+	0	1311	c.1284G>A	c.(1282-1284)cgG>cgA	p.R428R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Silent_p.R428R|PCDHAC2_uc011dab.2_Silent_p.R428R	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	442	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAACCGCGCGGGACGGGGGCT	0.622000														87			31		0	0	0.008361	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192880	132192880	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:132192880C>T	uc003vra.4	-	1	802	c.573G>A	c.(571-573)ggG>ggA	p.G191G	PLXNA4_uc003vrc.2_Silent_p.G191G|PLXNA4_uc003vrb.3_Silent_p.G191G	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	191	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACTCGGGCTTCCCATCCACTG	0.537000														81			11		0	0	0.008291	0	0
KCNB2	9312	broad.mit.edu	37	8	73480034	73480034	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:73480034C>T	uc003xzb.3	+	1	653	c.65C>T	c.(64-66)cCa>cTa	p.P22L		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	22					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TCCCTTCCTCCAGAGCCTGTG	0.537000														61			11		0	0	0.008291	0	0
PYROXD2	84795	broad.mit.edu	37	10	100148244	100148244	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:100148244G>A	uc001kpc.3	-	12	1400	c.1314C>T	c.(1312-1314)atC>atT	p.I438I	PYROXD2_uc001kpb.3_Intron	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA.	438							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GCGAGGAAGGGATGCAGAGCT	0.622000														11			4		0	0	0.009096	0	0
AKNA	80709	broad.mit.edu	37	9	117104355	117104355	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:117104355G>A	uc004biq.3	-	18	3943	c.3808C>T	c.(3808-3810)Cag>Tag	p.Q1270*	AKNA_uc004bin.3_Nonsense_Mutation_p.Q517*|AKNA_uc004bio.3_Nonsense_Mutation_p.Q730*|AKNA_uc004bip.3_Nonsense_Mutation_p.Q1189*|AKNA_uc004bir.3_Nonsense_Mutation_p.Q1270*|AKNA_uc004bis.3_Nonsense_Mutation_p.Q1270*|AKNA_uc010mve.2_Nonsense_Mutation_p.Q1151*	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	1270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						AGGGGACACTGAAGGGTATCA	0.552000														38			14		0	0	0.003163	0	0
ABCC11	85320	broad.mit.edu	37	16	48226442	48226442	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:48226442G>A	uc002eff.1	-	18	3045	c.2695C>T	c.(2695-2697)Ctc>Ttc	p.L899F	ABCC11_uc002efg.1_Missense_Mutation_p.L899F|ABCC11_uc002efh.1_Missense_Mutation_p.L899F|ABCC11_uc010vgk.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	899	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TTGTTGAAGAGCTTGTTGTGC	0.512000														43			7		0	0	0.004482	0	0
ZNF107	51427	broad.mit.edu	37	7	64168626	64168626	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:64168626C>T	uc003ttd.3	+	6	2730	c.1944C>T	c.(1942-1944)tcC>tcT	p.S648S	ZNF107_uc003tte.3_Silent_p.S648S	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA.	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TTAACTGCTCCTCAACCCTTA	0.378000														17			5		0	0	0.000602	0	0
OR10J5	127385	broad.mit.edu	37	1	159505536	159505536	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:159505536G>A	uc010piw.2	-	0	262	c.262C>T	c.(262-264)Cat>Tat	p.H88Y		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GGTTGGTTATGAAAAATGAGG	0.438000														52			8		0	0	0.008291	0	0
WDR49	151790	broad.mit.edu	37	3	167196724	167196724	+	Missense_Mutation	SNP	C	T	T	rs76736291	by1000genomes	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:167196724C>T	uc003fev.1	-	14	2340	c.2036G>A	c.(2035-2037)cGa>cAa	p.R679Q	WDR49_uc003feu.1_Missense_Mutation_p.R504Q|WDR49_uc011bpd.1_Missense_Mutation_p.R644Q|WDR49_uc003few.1_3'UTR	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	679										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CTTGGCTTTTCGTTCATGATG	0.318000														27			9		0	0	0.006214	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834396	125834396	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:125834396G>A	uc001uhe.1	+	1	459	c.451G>A	c.(451-453)Gac>Aac	p.D151N	TMEM132B_uc021rgl.1_Missense_Mutation_p.D41N	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	151						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGATGACAGTGACCTTACGGA	0.537000														84			22		0	0	0.002780	0	0
EHD2	30846	broad.mit.edu	37	19	48220193	48220193	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:48220193C>T	uc002phj.4	+	1	574	c.324C>T	c.(322-324)acC>acT	p.T108T	EHD2_uc010xyu.2_Intron	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	Homo sapiens EH-domain containing 2 (EHD2), mRNA.	108					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CTGAGGGCACCGTGCCCGGCA	0.667000														53			4		0	0	0.001984	0	0
TADA2A	6871	broad.mit.edu	37	17	35822210	35822210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:35822210C>T	uc002hnv.3	+	9	1066	c.697C>T	c.(697-699)Ctt>Ttt	p.L233F	TADA2A_uc002hnt.3_Missense_Mutation_p.L233F|TADA2A_uc002hnu.1_Missense_Mutation_p.L233F|TADA2A_uc002hnw.3_Missense_Mutation_p.L132F	NM_001488	NP_001479	O75478	TAD2A_HUMAN	Homo sapiens transcriptional adaptor 2A (TADA2A), transcript variant 1, mRNA.	233					histone H3 acetylation|transcription from RNA polymerase II promoter	PCAF complex|chromosome	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						ATTAATCAACCTTAGAAAGTT	0.239000														35			7		0	0	0.003080	0	0
TRANK1	9881	broad.mit.edu	37	3	36898891	36898891	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:36898891C>T	uc003cgj.3	-	11	2438	c.2190G>A	c.(2188-2190)ccG>ccA	p.P730P		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	730					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						CACCCAGAGTCGGCTTGTCAT	0.577000														40			18		0	0	0.004990	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	804	804	+	RNA	SNP	A	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrGL000237.1:804A>T	uc011mgu.1	-	1		c.414T>A								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		CCACCCTCCAAGGATCCTACC	0.592000														4			4		0	0	0.000602	0	0
ITSN1	6453	broad.mit.edu	37	21	35258600	35258600	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr21:35258600A>G	uc002yta.1	+	38	5121	c.4853A>G	c.(4852-4854)aAc>aGc	p.N1618S	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.N1613S|ITSN1_uc002ytj.2_Missense_Mutation_p.N1557S|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc010gmn.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1618	C2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GGAAAGAGCAACCCGTACTGT	0.468000														21			4		0	0	0.001168	0	0
DYSF	8291	broad.mit.edu	37	2	71896829	71896829	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:71896829C>T	uc010fen.3	+	50	5878	c.5737C>T	c.(5737-5739)Ccc>Tcc	p.P1913S	DYSF_uc010fei.3_Missense_Mutation_p.P1891S|DYSF_uc010feh.3_Missense_Mutation_p.P1881S|DYSF_uc002sig.4_Missense_Mutation_p.P1860S|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.P1905S|DYSF_uc010fee.3_Missense_Mutation_p.P1895S|DYSF_uc010fef.3_Missense_Mutation_p.P1912S|DYSF_uc002sie.3_Missense_Mutation_p.P1874S|DYSF_uc010feo.3_Missense_Mutation_p.P1906S|DYSF_uc010fej.3_Missense_Mutation_p.P1882S|DYSF_uc010fel.3_Missense_Mutation_p.P1861S|DYSF_uc010fem.3_Missense_Mutation_p.P1896S|DYSF_uc002sif.3_Missense_Mutation_p.P1875S|DYSF_uc010fek.3_Missense_Mutation_p.P1892S|DYSF_uc010yqy.2_Missense_Mutation_p.P755S|DYSF_uc010yqz.2_Missense_Mutation_p.P635S	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1874						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTTCATTTTCCCCTTCGACTA	0.498000														51			34		0	0	0.004878	0	0
NLRP2	55655	broad.mit.edu	37	19	55505674	55505674	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:55505674G>A	uc021vbq.1	+	10	2857	c.2746G>A	c.(2746-2748)Gat>Aat	p.D916N	NLRP2_uc010yfp.2_Missense_Mutation_p.D893N|NLRP2_uc002qij.3_Missense_Mutation_p.D916N|NLRP2_uc010esp.3_Missense_Mutation_p.D894N|NLRP2_uc010esn.3_Missense_Mutation_p.D892N|NLRP2_uc010eso.3_Missense_Mutation_p.D913N	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	916					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.D916N(3)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGGCTGCTGCGATCTCACAAA	0.468000														71			14		0	0	0.004007	0	0
EEPD1	80820	broad.mit.edu	37	7	36194329	36194329	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:36194329C>T	uc003tfa.3	+	1	1036	c.396C>T	c.(394-396)ccC>ccT	p.P132P		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	Homo sapiens endonuclease/exonuclease/phosphatase family domain containing 1 (EEPD1), mRNA.	132					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CAGCTGTGCCCCTCACCCCAC	0.652000														27			8		0	0	0.003080	0	0
SLC4A1	6521	broad.mit.edu	37	17	42334865	42334865	+	Silent	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:42334865G>A	uc002igf.4	-	12	1628	c.1479C>T	c.(1477-1479)atC>atT	p.I493I	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	493	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCCAGAAGCCGATCCACACGC	0.592000														36			8		0	0	0.004482	0	0
SEC31B	25956	broad.mit.edu	37	10	102262191	102262191	+	Silent	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:102262191C>T	uc001krc.1	-	10	1332	c.1230G>A	c.(1228-1230)ctG>ctA	p.L410L	SEC31B_uc010qpo.1_Silent_p.L409L|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_5'UTR	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	410					protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GCTGTGGCACCAGATGGGCAG	0.527000														41			6		0	0	0.001984	0	0
INPP5F	22876	broad.mit.edu	37	10	121571402	121571402	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:121571402G>A	uc001leo.3	+	14	2037	c.1821G>A	c.(1819-1821)atG>atA	p.M607I		NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	607							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AAAGTTACATGAAGTTACTAC	0.453000														55			7		0	0	0.006214	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16822622	16822622	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:16822622C>T	uc010rcu.1	-	17	2323	c.2308_splice	c.e17-1	p.E770_splice	PLEKHA7_uc001mmo.3_Splice_Site_p.E770_splice|PLEKHA7_uc010rcv.2_Splice_Site_p.E344_splice|PLEKHA7_uc001mmn.3_Splice_Site_p.E478_splice	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	770					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TTTTCCATCTCCTGTTGGCCA	0.517000														113			21		0	0	0.012319	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41061746	41061746	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:41061746G>A	uc003jmj.4	-	5	1031	c.541C>T	c.(541-543)Cga>Tga	p.R181*	HEATR7B2_uc021xxt.1_Nonsense_Mutation_p.R181*	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	181							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						TCAGACAGTCGGTTGGCATCC	0.483000														107			20		0	0	0.010504	0	0
FBXO28	23219	broad.mit.edu	37	1	224301887	224301887	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:224301887delA	uc001hoh.2	+	0	97	c.56delA	c.(55-57)gacfs	p.D19fs	FBXO28_uc009xef.2_Frame_Shift_Del_p.D19fs|FBXO28_uc010pvc.1_5'UTR	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	Homo sapiens F-box protein 28 (FBXO28), transcript variant 1, mRNA.	19										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		GGCCAAGGCGACGGCGGTTCC	0.721													---	5	---	---	3	---					
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:71223356_71223357insG	uc002jjj.4	-	1	356_357	c.268_269insC	c.(268-270)cagfs	p.Q90fs	FAM104A_uc002jji.4_Frame_Shift_Ins_p.Q90fs	NM_001098832	NP_001092302	Q969W3	F104A_HUMAN	Homo sapiens family with sequence similarity 104, member A (FAM104A), transcript variant 1, mRNA.	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416													---	89	---	---	51	---					
DDX3X	1654	broad.mit.edu	37	X	41206947	41206948	+	Frame_Shift_Ins	INS	-	G	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:41206947_41206948insG	uc004dfe.3	+	16	2819_2820	c.1964_1965insG	c.(1963-1965)cagfs	p.Q655fs	DDX3X_uc011mks.2_Frame_Shift_Ins_p.Q132fs|DDX3X_uc004dff.3_Frame_Shift_Ins_p.Q654fs|DDX3X_uc011mkq.2_Frame_Shift_Ins_p.Q639fs|DDX3X_uc011mkr.2_Frame_Shift_Ins_p.Q525fs|DDX3X_uc004dfg.3_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	655	Gly/Ser-rich.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TATAACTCCCAGGGGGTTGACT	0.421										HNSCC(61;0.18)			---	31	---	---	24	---					
