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
ZNF259	8882	broad.mit.edu	37	11	116653720	116653721	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr11:116653720_116653721GG>TT	uc001ppp.3	-	10	1039_1040	c.1006_1007CC>AA	c.(1006-1008)cca>AAa	p.P336K		NM_003904	NP_003895	O75312	ZPR1_HUMAN	Homo sapiens zinc finger protein 259 (ZNF259), mRNA.	336					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		TTCTAGCTCTGGGATTTCCACA	0.490000														278			11		0	0	6.4e-05	0	0
VARS	7407	broad.mit.edu	37	6	31752241	31752241	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr6:31752241G>A	uc003nxe.3	-	11	1929	c.1506C>T	c.(1504-1506)tcC>tcT	p.S502S	VARS_uc011doi.1_Non-coding_Transcript	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	502					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	AGCCAGGCACGGAGAGCAGGG	0.602000														341			161		0	0	0.000147903	0	0
PHLDB2	90102	broad.mit.edu	37	3	111664167	111664167	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:111664167G>A	uc010hqa.3	+	8	2861	c.2450G>A	c.(2449-2451)gGg>gAg	p.G817E	PHLDB2_uc003dyc.3_Missense_Mutation_p.G801E|PHLDB2_uc003dyd.3_Missense_Mutation_p.G774E|PHLDB2_uc003dyg.3_Missense_Mutation_p.G817E|PHLDB2_uc003dyh.3_Missense_Mutation_p.G774E|PHLDB2_uc003dyi.3_Missense_Mutation_p.G403E	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	817						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTCTCTGGGGGGAAAGGGTTT	0.373000														56			36		0	0	0.000270559	0	0
RAB40B	10966	broad.mit.edu	37	17	80616413	80616413	+	Silent	SNP	G	A	A	rs142445256	byFrequency	TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr17:80616413G>A	uc002kft.3	-	4	645	c.519C>T	c.(517-519)atC>atT	p.I173I	RAB40B_uc002kfs.3_Non-coding_Transcript	NM_006822	NP_006813	Q12829	RB40B_HUMAN	Homo sapiens RAB40B, member RAS oncogene family (RAB40B), mRNA.	173					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GCAGCAGCACGATCCTGGCCA	0.657000														24			36		0	0	0.000589545	0	0
LZTFL1	54585	broad.mit.edu	37	3	45875784	45875784	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:45875784T>A	uc003cox.1	-	3	468	c.330A>T	c.(328-330)ttA>ttT	p.L110F	LZTFL1_uc003coy.1_Missense_Mutation_p.L93F|LZTFL1_uc011bak.1_Non-coding_Transcript	NM_020347	NP_065080	Q9NQ48	LZTL1_HUMAN	Homo sapiens leucine zipper transcription factor-like 1 (LZTFL1), mRNA.	110										endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		CTTGTTCTAATAATTCTCTTG	0.284000														31			10		0	0	3.86212e-05	0	0
LRP1B	53353	broad.mit.edu	37	2	141299473	141299473	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:141299473G>A	uc002tvj.1	-	43	8234	c.7262C>T	c.(7261-7263)tCg>tTg	p.S2421L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2421					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.W2420R(1)|p.S2421S(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)		TCCCCAGTCCGACCAGAATAT	0.383000										TSP Lung(27;0.18)				24			17		0	0	7.07596e-05	0	0
ARMC12	221481	broad.mit.edu	37	6	35715185	35715185	+	Silent	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr6:35715185C>T	uc003ola.3	+	3	700	c.673C>T	c.(673-675)Ctg>Ttg	p.L225L	ARMC12_uc003olb.1_Silent_p.L198L	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	Homo sapiens armadillo repeat containing 12 (ARMC12), mRNA.	198							binding										GATGGAGATCCTGCAGTCAGA	0.592000														19			21		0	0	0.000375601	0	0
TRIM29	23650	broad.mit.edu	37	11	120008273	120008273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr11:120008273G>A	uc001pwz.3	-	0	591	c.467C>T	c.(466-468)gCc>gTc	p.A156V	TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	156					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GCCCGTGTCGGCCCGGGGGTA	0.642000														49			20		0	0	0.000295444	0	0
SLC9A1	6548	broad.mit.edu	37	1	27428548	27428548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:27428548G>A	uc001bnm.3	-	8	2520	c.1894C>T	c.(1894-1896)Cgc>Tgc	p.R632C	SLC9A1_uc001bnl.3_Missense_Mutation_p.R136C|SLC9A1_uc010ofk.2_Missense_Mutation_p.R293C	NM_003047	NP_003038	P19634	SL9A1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 1 (SLC9A1), mRNA.	632					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	AGGATTTTGCGGATCTCCTCC	0.617000														97			13		0	0	0.000566183	0	0
abParts	0	broad.mit.edu	37	14	107062402	107062402	+	RNA	SNP	G	C	C			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr14:107062402G>C	uc021ser.1	-	150		c.6584C>G								Parts of antibodies, mostly variable regions.																		TCCTGGGCCCGACTCCTGCAG	0.597000														44			5		0	0	8.12818e-05	0	0
CHMP4B	128866	broad.mit.edu	37	20	32436417	32436418	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr20:32436417_32436418CC>TT	uc002xaa.3	+	1	500_501	c.335_336CC>TT	c.(334-336)gcc>gTT	p.A112V		NM_176812	NP_789782	Q9H444	CHM4B_HUMAN	Homo sapiens charged multivesicular body protein 4B (CHMP4B), mRNA.	112					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						ATGGGCTATGCCGCCAAGGCCA	0.614000														35			13		0	0	6.4e-05	0	0
NELL2	4753	broad.mit.edu	37	12	45000984	45000984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr12:45000984G>A	uc010skz.1	-	15	1906	c.1781C>T	c.(1780-1782)cCa>cTa	p.P594L	NELL2_uc001rof.3_Missense_Mutation_p.P543L|NELL2_uc001rog.2_Missense_Mutation_p.P544L|NELL2_uc001roh.2_Missense_Mutation_p.P544L|NELL2_uc009zkd.2_Missense_Mutation_p.P543L|NELL2_uc010sla.1_Missense_Mutation_p.P567L|NELL2_uc001roi.1_Missense_Mutation_p.P544L|NELL2_uc010slb.1_Missense_Mutation_p.P543L	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	544	EGF-like 5; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GAAGCCTTGTGGGCAGGCACA	0.393000														12			18		0	0	0.000375601	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188953	32188953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr6:32188953C>T	uc003obb.3	-	3	740	c.601G>A	c.(601-603)Gac>Aac	p.D201N	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.D201N	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	201	EGF-like 5; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGTCCTGGGTCCTGGAAGCAC	0.642000														223			137		0	0	0.000147903	0	0
SPEN	23013	broad.mit.edu	37	1	16199343	16199344	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:16199343_16199344CC>AA	uc001axk.1	+	1	320_321	c.116_117CC>AA	c.(115-117)ccc>cAA	p.P39Q	SPEN_uc010obp.1_5'Flank	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	39	RRM 1.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAAATTCTTCCCAAGAGGGGAT	0.401000														137			9		0	0	6.4e-05	0	0
AKAP1	8165	broad.mit.edu	37	17	55183806	55183806	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr17:55183806T>G	uc010wnl.2	+	2	1263	c.981T>G	c.(979-981)aaT>aaG	p.N327K	AKAP1_uc002iux.3_Missense_Mutation_p.N327K|AKAP1_uc021uak.1_Missense_Mutation_p.N327K|AKAP1_uc010dcm.3_Missense_Mutation_p.N327K|AKAP1_uc002iuy.3_Non-coding_Transcript	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	327					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	RNA binding|protein binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TGGATAGAAATGAGGAGAGCT	0.493000														52			56		0	0	0.000147903	0	0
MLL	4297	broad.mit.edu	37	11	118374290	118374290	+	Silent	SNP	A	G	G			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr11:118374290A>G	uc001pta.3	+	26	7697	c.7674A>G	c.(7672-7674)ccA>ccG	p.P2558P	MLL_uc001ptb.3_Silent_p.P2561P	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2558					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CCACAGAACCAATTTCAGCCT	0.433000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									34			27		0	0	0.000409698	0	0
STK31	56164	broad.mit.edu	37	7	23827599	23827599	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr7:23827599G>A	uc003sws.4	+	21	2555	c.2488_splice	c.e21-1	p.E830_splice	STK31_uc003swt.4_Splice_Site_p.E807_splice|STK31_uc011jze.2_Splice_Site_p.E830_splice|STK31_uc010kuq.3_Splice_Site_p.E807_splice|STK31_uc003swv.1_Splice_Site	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	830	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTATCTATAGGAAACTTTAAA	0.348000														63			32		0	0	0.000132358	0	0
OBSCN	84033	broad.mit.edu	37	1	228433280	228433280	+	Silent	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:228433280C>T	uc009xez.1	+	11	3692	c.3648C>T	c.(3646-3648)gtC>gtT	p.V1216V	OBSCN_uc001hsn.3_Silent_p.V1216V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1216	Ig-like 12.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCATGGAGGTCAAGGGCTGCA	0.602000														28			19		0	0	7.07596e-05	0	0
EDN3	1908	broad.mit.edu	37	20	57876575	57876575	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr20:57876575G>A	uc002yap.3	+	1	532	c.163G>A	c.(163-165)Gag>Aag	p.E55K	EDN3_uc002yao.1_Missense_Mutation_p.E55K|EDN3_uc002yaq.3_Missense_Mutation_p.E55K|EDN3_uc002yar.3_Missense_Mutation_p.E55K|EDN3_uc002yas.3_Missense_Mutation_p.E55K	NM_000114	NP_996917	P14138	EDN3_HUMAN	Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA.	55					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of MAP kinase activity|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					TGGCCCTGGCGAGGAGACTGT	0.706000														12			9		0	0	0.000442599	0	0
RAB27B	5874	broad.mit.edu	37	18	52556557	52556557	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr18:52556557G>A	uc002lfr.3	+	5	813	c.570G>A	c.(568-570)gaG>gaA	p.E190E		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	190					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		AGTGTGTGGAGAAGACACAAA	0.413000														14			11		0	0	0.00010058	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887610	12887610	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:12887610C>T	uc001auk.2	-	2	443	c.247G>A	c.(247-249)Ggg>Agg	p.G83R		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	83								p.H82R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AGGAAGCACCCATGGGCCATA	0.483000														615			57		0	0	0.000147903	0	0
PCLO	27445	broad.mit.edu	37	7	82584826	82584826	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr7:82584826G>A	uc003uhx.2	-	4	5732	c.5443C>T	c.(5443-5445)Cga>Tga	p.R1815*	PCLO_uc003uhv.2_Nonsense_Mutation_p.R1815*	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1746					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						CTCTGAGCTCGAAGTTCATCT	0.403000														103			70		0	0	0.000147903	0	0
PTPRR	5801	broad.mit.edu	37	12	71286730	71286730	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr12:71286730A>C	uc001swi.2	-	1	500	c.86T>G	c.(85-87)tTt>tGt	p.F29C		NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	29					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AATTGCCAAAAAATGATCATT	0.378000														31			21		0	0	0.000175454	0	0
PORCN	64840	broad.mit.edu	37	X	48372736	48372736	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:48372736G>A	uc010nie.1	+	8	986	c.828G>A	c.(826-828)gaG>gaA	p.E276E	PORCN_uc004djr.1_Silent_p.E271E|PORCN_uc004djs.1_Silent_p.E265E|PORCN_uc011mlx.1_Silent_p.E194E|PORCN_uc004dju.1_Silent_p.E134E|PORCN_uc004djv.1_Silent_p.E276E|PORCN_uc004djw.1_Silent_p.E270E	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	Homo sapiens porcupine homolog (Drosophila) (PORCN), transcript variant D, mRNA.	276					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTACCGAGGAGAAGGATCACC	0.637000														16			13		0	0	0.00010058	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101595985	101595985	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr5:101595985G>A	uc003knm.3	-	5	1347	c.1060C>T	c.(1060-1062)Cat>Tat	p.H354Y		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	354					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TTACTCTGATGAGCCTGGGAA	0.259000														21			5		0	0	8.12818e-05	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279728	47279728	+	Silent	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:47279728C>T	uc001cqn.4	+	5	852	c.768C>T	c.(766-768)gaC>gaT	p.D256D	CYP4B1_uc009vyl.1_Silent_p.D92D|CYP4B1_uc001cqm.4_Silent_p.D255D|CYP4B1_uc009vym.3_Silent_p.D241D|CYP4B1_uc010omk.2_Silent_p.D92D|CYP4B1_uc010oml.1_Silent_p.D93D	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	255					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.H256Y(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TGGCCCATGACCATACAGGTG	0.612000														126			21		0	0	0.000375601	0	0
RMND1	55005	broad.mit.edu	37	6	151766442	151766442	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr6:151766442C>T	uc003qoi.2	-	2	684	c.504_splice	c.e2+1	p.E168_splice	RMND1_uc011eeq.1_5'Flank|RMND1_uc003qoj.3_Intron|RMND1_uc011eer.1_Intron	NM_017909	NP_060379	Q9NWS8	RMND1_HUMAN	Homo sapiens required for meiotic nuclear division 1 homolog (S. cerevisiae) (RMND1), mRNA.	168										central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		CCCTACTTTACCTCGTTCACA	0.517000														14			13		0	0	0.000308642	0	0
OTOF	9381	broad.mit.edu	37	2	26699021	26699021	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:26699021G>A	uc002rhk.3	-	22	2968	c.2841C>T	c.(2839-2841)ttC>ttT	p.F947F	OTOF_uc010yla.2_5'Flank|OTOF_uc002rhh.3_Silent_p.F200F|OTOF_uc002rhi.3_Silent_p.F257F|OTOF_uc002rhj.3_Silent_p.F200F	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	947	C2 3.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACGGGTGGGAAGGCATGCA	0.667000														14			4		0	0	0.00024832	0	0
C16orf71	146562	broad.mit.edu	37	16	4790608	4790608	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr16:4790608C>T	uc002cxn.3	+	3	1193	c.731C>T	c.(730-732)tCc>tTc	p.S244F		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	Homo sapiens chromosome 16 open reading frame 71 (C16orf71), mRNA.	244										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GCTCCCAGATCCAAAATGCCC	0.652000														20			13		0	0	0.000219431	0	0
PXK	54899	broad.mit.edu	37	3	58398679	58398679	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:58398679C>T	uc003djz.1	+	16	1616	c.1517C>T	c.(1516-1518)cCc>cTc	p.P506L	PXK_uc003djx.1_Missense_Mutation_p.P506L|PXK_uc003dka.1_Missense_Mutation_p.P506L|PXK_uc003dkb.1_Missense_Mutation_p.P423L|PXK_uc003dkc.1_Missense_Mutation_p.P488L|PXK_uc011bfe.1_Missense_Mutation_p.P473L|PXK_uc010hnj.1_Missense_Mutation_p.P473L|PXK_uc003dkd.1_Missense_Mutation_p.P369L|PXK_uc010hnk.1_Missense_Mutation_p.P280L	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	Homo sapiens PX domain containing serine/threonine kinase (PXK), mRNA.	506					cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	ATP binding|actin binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CCAACTCCACCCTCTACATCA	0.537000														79			45		0	0	0.000147903	0	0
SEMA5A	9037	broad.mit.edu	37	5	9119117	9119117	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr5:9119117C>T	uc003jek.2	-	14	2630	c.1918G>A	c.(1918-1920)Gag>Aag	p.E640K		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	640	TSP type-1 2.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TACCTTTCCTCGCGGTTCTGT	0.652000														32			12		0	0	0.000422831	0	0
C17orf56	146705	broad.mit.edu	37	17	79205748	79205748	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr17:79205748G>A	uc002jzu.2	-	7	658	c.600C>T	c.(598-600)tcC>tcT	p.S200S	C17orf56_uc002jzr.2_5'Flank|C17orf56_uc002jzs.2_Silent_p.S116S|C17orf56_uc002jzt.2_Silent_p.S116S|C17orf56_uc002jzv.2_Silent_p.S48S|AL832593_uc002jzw.1_Non-coding_Transcript	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	Homo sapiens chromosome 17 open reading frame 56 (C17orf56), mRNA.	200	Ser-rich.					integral to membrane				endometrium(1)|kidney(1)|lung(5)|prostate(1)|skin(3)	11	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGTTCTGGGAGGAATTCTGAG	0.657000														16			32		0	0	0.000270559	0	0
ZFP36L1	677	broad.mit.edu	37	14	69259613	69259613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr14:69259613C>T	uc021rve.1	-	1	344	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	ZFP36L1_uc001xki.2_Missense_Mutation_p.E15K|ZFP36L1_uc001xkh.2_Missense_Mutation_p.E15K	NM_001244701	NP_001231630	Q07352	TISB_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA.	15					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CATAAAACTTCGCTCAAGTCG	0.532000														47			70		0	0	0.000147903	0	0
abParts	0	broad.mit.edu	37	14	107211180	107211180	+	RNA	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr14:107211180G>A	uc021ser.1	-	15		c.1194C>T								Parts of antibodies, mostly variable regions.																		GAGAGTTTCAGGGACCCCCCA	0.617000														24			44		0	0	0.000437636	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350470	51350470	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr15:51350470G>A	uc001zyy.3	-	2	587	c.487C>T	c.(487-489)Cac>Tac	p.H163Y		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA.	163										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		ATGATCTTGTGGGCTTCCTTC	0.453000														156			77		0	0	0.000147903	0	0
SPAG16	79582	broad.mit.edu	37	2	215274924	215274924	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:215274924G>A	uc002veq.3	+	15	1873	c.1781G>A	c.(1780-1782)gGg>gAg	p.G594E	SPAG16_uc002ver.3_Missense_Mutation_p.G540E|SPAG16_uc010zjk.2_Missense_Mutation_p.G500E|VWC2L_uc002vet.2_5'Flank|VWC2L_uc010zjl.1_5'Flank	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	594					cilium assembly	cilium axoneme|flagellar axoneme		p.G594V(2)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CTTAAATCTGGGGAGATTCAC	0.478000														66			37		0	0	0.000270559	0	0
ERBB4	2066	broad.mit.edu	37	2	212289026	212289026	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:212289026C>T	uc002veg.1	-	23	2818	c.2720_splice	c.e23-1	p.G907_splice	ERBB4_uc002veh.1_Splice_Site_p.G907_splice|ERBB4_uc010zji.1_Splice_Site_p.G897_splice|ERBB4_uc010zjj.1_Splice_Site_p.G897_splice	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	907	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)		TATAGTAACTCCTATATTGGA	0.363000										TSP Lung(8;0.080)				16			5		0	0	1.23904e-05	0	0
PSG7	5676	broad.mit.edu	37	19	43433850	43433850	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr19:43433850G>A	uc002ovl.4	-	3	552	c.450C>T	c.(448-450)atC>atT	p.I150I	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Silent_p.I29I	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	151	Ig-like C2-type 1.				female pregnancy	extracellular region							Prostate(69;0.00682)				TGCTGCTGGAGATGGAGGGTT	0.517000														37			59		0	0	0.000147903	0	0
MUC16	94025	broad.mit.edu	37	19	9017365	9017365	+	Silent	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr19:9017365C>T	uc002mkp.3	-	25	38163	c.37959G>A	c.(37957-37959)agG>agA	p.R12653R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12655	SEA 4.				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						AGAGACTGTTCCTGTCCAGGG	0.567000														79			55		0	0	0.000147903	0	0
CAPN3	825	broad.mit.edu	37	15	42680027	42680027	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr15:42680027C>T	uc001zpn.1	+	3	881	c.575C>T	c.(574-576)aCc>aTc	p.T192I	CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_Missense_Mutation_p.T105I|CAPN3_uc010udf.1_Missense_Mutation_p.T105I|CAPN3_uc010udg.1_Missense_Mutation_p.T105I|CAPN3_uc001zpo.1_Missense_Mutation_p.T192I|CAPN3_uc001zpp.1_Missense_Mutation_p.T192I	NM_000070	NP_000061	P20807	CAN3_HUMAN	Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA.	192	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CTGGTTTTCACCAAGTCCAAC	0.502000														81			31		0	0	0.000227799	0	0
CYP3A7	1551	broad.mit.edu	37	7	99272187	99272187	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr7:99272187C>T	uc003urq.3	-	2	289	c.187G>A	c.(187-189)Gag>Aag	p.E63K	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_5'UTR|CYP3A7_uc011kiy.2_Missense_Mutation_p.E53K|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron|CYP3A7_uc003urt.3_Missense_Mutation_p.E63K	NM_000777	NP_000768	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.	63					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.E63*(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TTATAGCACTCTGTGTCAAAT	0.398000														32			14		0	0	0.000422831	0	0
PARD3B	117583	broad.mit.edu	37	2	206166306	206166306	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:206166306G>A	uc002var.2	+	17	2718	c.2511G>A	c.(2509-2511)acG>acA	p.T837T	PARD3B_uc010fub.2_Silent_p.T837T|PARD3B_uc002vao.2_Silent_p.T837T|PARD3B_uc002vap.2_Silent_p.T775T|PARD3B_uc002vaq.2_Silent_p.T768T	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	837	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TCAAAAAAACgaaagagaagg	0.433000														48			30		0	0	0.000227799	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130222697	130222697	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:130222697C>T	uc004evz.3	+	11	1927	c.1582C>T	c.(1582-1584)Cca>Tca	p.P528S	ARHGAP36_uc004ewa.3_Missense_Mutation_p.P516S|ARHGAP36_uc004ewb.3_Missense_Mutation_p.P497S|ARHGAP36_uc004ewc.3_Missense_Mutation_p.P392S	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	528					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCAAGACCGCCCATTGCTCCG	0.567000														41			26		0	0	0.000184323	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83374903	83374903	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:83374903C>G	uc004eej.2	-	8	815	c.779G>C	c.(778-780)gGt>gCt	p.G260A	RPS6KA6_uc011mqt.2_Missense_Mutation_p.G260A|RPS6KA6_uc011mqu.2_Missense_Mutation_p.G157A|RPS6KA6_uc010nmo.1_Non-coding_Transcript	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	260	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CATAAGAACACCATATGACCA	0.343000														43			25		0	0	0.000117367	0	0
KLHL35	283212	broad.mit.edu	37	11	75134908	75134908	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr11:75134908G>A	uc001owm.2	-	4	1391	c.1391C>T	c.(1390-1392)cCc>cTc	p.P464L		NM_001039548	NP_001034637	Q6PF15	KLH35_HUMAN	Homo sapiens kelch-like 35 (Drosophila) (KLHL35), mRNA.	244										lung(2)|stomach(1)	3						GTCCTCCTTGGGGTCAAAGCA	0.637000														14			10		0	0	0.000442599	0	0
PCNXL2	80003	broad.mit.edu	37	1	233344346	233344346	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:233344346G>A	uc001hvl.2	-	12	3016	c.2781C>T	c.(2779-2781)gcC>gcT	p.A927A	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript|PCNXL2_uc001hvq.1_Silent_p.A226A	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	927						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)				GAGGGTGCCTGGCTTTGGCCC	0.433000														28			10		0	0	0.000442599	0	0
TLN1	7094	broad.mit.edu	37	9	35717705	35717705	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr9:35717705G>A	uc003zxt.2	-	17	2428	c.2074C>T	c.(2074-2076)Cgg>Tgg	p.R692W		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	692					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCTCTGTCCGCTGGGCCACA	0.562000														26			35		0	0	0.000437636	0	0
EXPH5	23086	broad.mit.edu	37	11	108381788	108381789	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr11:108381788_108381789CC>TT	uc001pkk.3	-	5	4556_4557	c.4445_4446GG>AA	c.(4444-4446)agg>aAA	p.R1482K	EXPH5_uc010rvz.2_Missense_Mutation_p.R1326K|EXPH5_uc010rvy.2_Missense_Mutation_p.R1294K	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1482					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTCTGCCTTCCCTAGGCTGTGA	0.480000														19			16		0	0	6.4e-05	0	0
CORIN	10699	broad.mit.edu	37	4	47788900	47788900	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr4:47788900G>A	uc003gxm.3	-	2	344	c.251C>T	c.(250-252)cCt>cTt	p.P84L	CORIN_uc011bzf.2_5'UTR|CORIN_uc011bzg.2_Intron|CORIN_uc011bzh.1_Missense_Mutation_p.P84L|CORIN_uc011bzi.1_Missense_Mutation_p.P84L|CORIN_uc003gxn.4_Missense_Mutation_p.P84L	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	84					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGTGACCAAAGGTTCACTCCC	0.363000														35			13		0	0	0.000151284	0	0
FANCD2	2177	broad.mit.edu	37	3	10089677	10089677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:10089677C>T	uc003buw.3	+	15	1433	c.1355C>T	c.(1354-1356)tCa>tTa	p.S452L	FANCD2_uc003bux.1_Missense_Mutation_p.S452L|FANCD2_uc003buy.1_Missense_Mutation_p.S452L|FANCD2_uc010hcw.1_5'Flank	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	452					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGTATAATTTCATTTGGCAGT	0.403000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					180			43		0	0	0.000589545	0	0
CNTN5	53942	broad.mit.edu	37	11	99872785	99872785	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr11:99872785G>A	uc001pga.3	+	8	1401	c.897G>A	c.(895-897)gaG>gaA	p.E299E	CNTN5_uc009ywv.2_Silent_p.E299E|CNTN5_uc001pfz.3_Silent_p.E299E|CNTN5_uc021qpb.1_Silent_p.E299E|CNTN5_uc021qpc.1_Silent_p.E225E	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	299					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GAGAATATGAGCCGAAAATTG	0.358000														24			7		0	0	3.86212e-05	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905881	144905881	+	Silent	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:144905881C>T	uc022cfn.1	+	0	1938	c.1938C>T	c.(1936-1938)cgC>cgT	p.R646R	SLITRK2_uc004fcd.3_Silent_p.R646R|SLITRK2_uc010nsp.3_Silent_p.R646R|SLITRK2_uc010nso.3_Silent_p.R646R|SLITRK2_uc011mwq.2_Silent_p.R646R|SLITRK2_uc011mwr.2_Silent_p.R646R|SLITRK2_uc011mws.2_Silent_p.R646R|SLITRK2_uc004fcg.3_Silent_p.R646R|SLITRK2_uc011mwt.2_Silent_p.R646R	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.	646						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTGAAACGCCGAAAGGGAG	0.428000														88			27		0	0	0.000184323	0	0
NCAPD2	9918	broad.mit.edu	37	12	6637023	6637023	+	Silent	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr12:6637023C>T	uc001qoo.2	+	22	3034	c.2988C>T	c.(2986-2988)atC>atT	p.I996I	NCAPD2_uc009zen.1_Silent_p.I868I|NCAPD2_uc010sfd.1_Silent_p.I951I	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	996					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	p.L995L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CAGAACTAATCCGTGGCATCT	0.493000														168			68		0	0	0.000147903	0	0
RSBN1	54665	broad.mit.edu	37	1	114309021	114309021	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:114309021G>A	uc001edq.3	-	6	2026	c.1990C>T	c.(1990-1992)Cgt>Tgt	p.R664C	RSBN1_uc001edr.3_Non-coding_Transcript	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	Homo sapiens round spermatid basic protein 1 (RSBN1), mRNA.	664						nucleus		p.R664H(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTAGCATAACGAATGCCTTCC	0.393000														35			59		0	0	0.000147903	0	0
MDC1	9656	broad.mit.edu	37	6	30670547	30670548	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr6:30670547_30670548CC>AA	uc003nrg.4	-	12	6412_6413	c.5972_5973GG>TT	c.(5971-5973)cgg>cTT	p.R1991L	MDC1_uc003nrf.4_Missense_Mutation_p.R622L	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1991	BRCT 2.|Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	p.R1991L(1)		breast(2)|kidney(1)|ovary(1)	4						GCCTTCGCTCCCGAGCCCTGCT	0.510000								Other conserved DNA damage response genes						157			8		0	0	6.4e-05	0	0
OR2M3	127062	broad.mit.edu	37	1	248366638	248366638	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:248366638A>C	uc010pzg.2	+	0	269	c.269A>C	c.(268-270)aAg>aCg	p.K90T		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTGGCAGCAAGTCCATTTCT	0.502000														201			9		0	0	0.000442599	0	0
SIAH3	283514	broad.mit.edu	37	13	46357566	46357566	+	Silent	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr13:46357566C>T	uc001vap.3	-	1	844	c.762G>A	c.(760-762)ggG>ggA	p.G254G		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	Homo sapiens seven in absentia homolog 3 (Drosophila) (SIAH3), mRNA.	254					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						TGATGGCAATCCCAATGGCAA	0.602000														77			37		0	0	0.000191422	0	0
CXCL14	9547	broad.mit.edu	37	5	134914211	134914211	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr5:134914211G>A	uc003lay.3	-	1	584	c.119C>T	c.(118-120)tCc>tTc	p.S40F		NM_004887	NP_004878	O95715	CXL14_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 14 (CXCL14), mRNA.	40					cell-cell signaling|chemotaxis|immune response|signal transduction	Golgi apparatus|extracellular space	chemokine activity			large_intestine(2)|lung(2)|prostate(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCCTTCCGGGAGCACTTGCA	0.602000														21			30		0	0	0.000491102	0	0
PCCB	5096	broad.mit.edu	37	3	136019900	136019900	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:136019900A>G	uc011bmc.2	+	9	1024	c.973A>G	c.(973-975)Att>Gtt	p.I325V	PCCB_uc003eqz.1_Missense_Mutation_p.I305V|PCCB_uc003eqy.2_Missense_Mutation_p.I305V|PCCB_uc011bmd.1_Missense_Mutation_p.I222V	NM_001178014	NP_001171485	P05166	PCCB_HUMAN	Homo sapiens propionyl CoA carboxylase, beta polypeptide (PCCB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	305	Acyl-CoA binding (Potential).|Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	GCTTGACACAATTGTCCCTTT	0.468000														27			28		0	0	0.000279167	0	0
PHF16	9767	broad.mit.edu	37	X	46918005	46918005	+	Silent	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:46918005C>T	uc004dgx.3	+	10	2049	c.1998C>T	c.(1996-1998)tcC>tcT	p.S666S	PHF16_uc004dgy.3_Silent_p.S666S	NM_001077445	NP_055550	Q92613	JADE3_HUMAN	Homo sapiens PHD finger protein 16 (PHF16), transcript variant 2, mRNA.	666					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TTGCCAAATCCAATGGCCTGG	0.547000														24			8		0	0	0.000157383	0	0
C19orf29	58509	broad.mit.edu	37	19	3611986	3611986	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr19:3611986A>G	uc002lyh.3	-	9	2265	c.2212T>C	c.(2212-2214)Tgc>Cgc	p.C738R	C19orf29-AS1_uc021umw.1_Silent_p.A65A|C19orf29_uc010xho.2_Missense_Mutation_p.C197R|C19orf29_uc010dtn.3_Missense_Mutation_p.C586R|C19orf29_uc002lyi.4_Missense_Mutation_p.C738R|C19orf29_uc010dto.3_Non-coding_Transcript	NM_001080543	NP_067054	Q8WUQ7	CS029_HUMAN	Homo sapiens chromosome 19 open reading frame 29 (C19orf29), transcript variant 1, mRNA.	738						catalytic step 2 spliceosome	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(2)	15		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAAACTGGCAGCGGAAGCCG	0.637000														25			30		0	0	0.000279167	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212168	26212168	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:26212168C>T	uc022buc.1	+	0	205	c.205C>T	c.(205-207)Ccc>Tcc	p.P69S	MAGEB6_uc004dbr.3_Missense_Mutation_p.P69S	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	69	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GGGAGTGTCACCCACTGGGTC	0.532000														57			32		0	0	0.000339439	0	0
PSG8	440533	broad.mit.edu	37	19	43258539	43258539	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr19:43258539G>A	uc002ouo.2	-	4	1287	c.1189C>T	c.(1189-1191)Cgt>Tgt	p.R397C	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Non-coding_Transcript|PSG8_uc002ouh.3_Missense_Mutation_p.R397C|PSG8_uc010ein.3_Missense_Mutation_p.R275C|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	397	Ig-like C2-type 3.					extracellular region		p.R397C(4)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GCTGAGTTACGAACAGAGCAA	0.448000														150			11		0	0	3.86212e-05	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576572	33576572	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr5:33576572C>T	uc003jia.1	-	18	3722	c.3559G>A	c.(3559-3561)Gct>Act	p.A1187T	ADAMTS12_uc010iuq.1_Missense_Mutation_p.A1102T	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1187	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCCACTGGAGCGTCATTTCCA	0.498000										HNSCC(64;0.19)				96			43		0	0	0.000147903	0	0
SPERT	220082	broad.mit.edu	37	13	46287733	46287733	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr13:46287733G>A	uc001van.1	+	2	653	c.573G>A	c.(571-573)aaG>aaA	p.K191K	SPERT_uc001vao.2_Silent_p.K155K	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	191						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)		TGCTCAGCAAGGAGAACAAGA	0.622000														58			24		0	0	0.000117367	0	0
COL6A3	1293	broad.mit.edu	37	2	238280589	238280589	+	Silent	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:238280589C>T	uc002vwl.2	-	8	4356	c.4071G>A	c.(4069-4071)gtG>gtA	p.V1357V	COL6A3_uc002vwo.2_Silent_p.V1151V|COL6A3_uc010znj.1_Silent_p.V750V|COL6A3_uc002vwq.3_Silent_p.V1151V|COL6A3_uc002vwr.3_Silent_p.V950V	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1357	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.V1357L(1)		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)		GCTTGAGCTCCACCGCCGGGT	0.612000														29			13		0	0	0.000151284	0	0
CCDC144C	348254	broad.mit.edu	37	17	20224794	20224794	+	RNA	SNP	A	G	G			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr17:20224794A>G	uc010cqy.1	+	0		c.308A>G								Homo sapiens coiled-coil domain containing 144C (CCDC144C), non-coding RNA.											breast(2)|endometrium(1)|kidney(4)|lung(4)|prostate(1)|urinary_tract(1)	13						GCTGGTGGAAAAACAGCGTCG	0.637000														43			4		0	0	0.00024832	0	0
MCHR2	84539	broad.mit.edu	37	6	100369011	100369011	+	Silent	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr6:100369011C>T	uc003pqh.1	-	5	1143	c.828G>A	c.(826-828)caG>caA	p.Q276Q	MCHR2_uc003pqi.1_Silent_p.Q276Q	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	276						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GCTGTTCCATCTGTAAGTTCA	0.473000														41			5		0	0	1.23904e-05	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218372	130218372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:130218372G>A	uc004evz.3	+	4	1084	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	ARHGAP36_uc004ewa.3_Missense_Mutation_p.E235K|ARHGAP36_uc004ewb.3_Missense_Mutation_p.E216K|ARHGAP36_uc004ewc.3_Missense_Mutation_p.E111K	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	247	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CCAATTCATTGAAAAACATGG	0.478000														27			6		0	0	3.59834e-05	0	0
TYSND1	219743	broad.mit.edu	37	10	71905214	71905214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr10:71905214C>T	uc001jqr.3	-	0	1283	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	TYSND1_uc001jqq.3_Intron|TYSND1_uc001jqs.3_Missense_Mutation_p.E377K|TYSND1_uc001jqt.3_Intron	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN	Homo sapiens trypsin domain containing 1 (TYSND1), transcript variant 1, mRNA.	377	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CTGGCTGCTTCCCGAGGGGAC	0.667000														4			7		0	0	0.000157383	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797875	148797875	+	Silent	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:148797875C>T	uc004fdq.3	+	4	884	c.729C>T	c.(727-729)atC>atT	p.I243I	MAGEA11_uc004fdr.3_Silent_p.I214I	NM_005366	NP_005357	P43364	MAGAB_HUMAN	Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.	243	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AGGGGCTGATCACAAAGGCAG	0.423000														101			56		0	0	0.000147903	0	0
PCLO	27445	broad.mit.edu	37	7	82582174	82582174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr7:82582174G>A	uc003uhx.2	-	4	8384	c.8095C>T	c.(8095-8097)Cct>Tct	p.P2699S	PCLO_uc003uhv.2_Missense_Mutation_p.P2699S|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2630					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						GGCTCTGGAGGAATTGTTATG	0.403000														21			15		0	0	0.000308642	0	0
TMEM163	81615	broad.mit.edu	37	2	135260541	135260541	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:135260541G>A	uc002ttx.3	-	4	552	c.486C>T	c.(484-486)ttC>ttT	p.F162F	TMEM163_uc002tty.3_Intron	NM_030923	NP_112185	Q8TC26	TM163_HUMAN	Homo sapiens transmembrane protein 163 (TMEM163), mRNA.	162						integral to membrane				endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		ATGACAGAAGGAATATCACCC	0.438000														13			7		0	0	0.000274275	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77325337	77325337	+	Silent	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr16:77325337C>T	uc002ffc.4	-	20	3647	c.3228G>A	c.(3226-3228)gaG>gaA	p.E1076E		NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	1076	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGCACTTCATCTCCCTCTTCC	0.483000														63			80		0	0	0.000147903	0	0
TP53	7157	broad.mit.edu	37	17	7577105	7577105	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr17:7577105G>A	uc002gim.2	-	7	1027	c.833C>T	c.(832-834)cCt>cTt	p.P278L	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.P278L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P146L|TP53_uc010cnf.1_Missense_Mutation_p.P146L|TP53_uc002gii.1_Missense_Mutation_p.P146L|TP53_uc010cni.1_Missense_Mutation_p.P278L|TP53_uc010cnh.1_Missense_Mutation_p.P278L|TP53_uc002gij.2_Missense_Mutation_p.P278L|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.	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and 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.P278L(119)|p.P278R(58)|p.P278S(53)|p.P278H(25)|p.P278T(22)|p.C277F(22)|p.P278A(20)|p.C277Y(15)|p.0?(8)|p.P278F(7)|p.P278fs*67(7)|p.C277*(7)|p.C277G(5)|p.C277C(4)|p.A276_R283delACPGRDRR(2)|p.V274_P278del(2)|p.P278fs*28(2)|p.L265_K305del41(2)|p.C275_R283delCACPGRDRR(2)|p.?(2)|p.F270_D281del12(2)|p.C277W(2)|p.C277S(2)|p.V272_K292del21(2)|p.C277fs*29(2)|p.A276fs*64(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.P278_G279insXXXXX(1)|p.S269fs*21(1)|p.A276_C277delAC(1)|p.C277R(1)|p.C275fs*20(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)		GTCTCTCCCAGGACAGGCACA	0.552000		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)				6			15		0	0	0.000422831	0	0
GSTCD	79807	broad.mit.edu	37	4	106755698	106755698	+	Silent	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr4:106755698C>T	uc003hxz.4	+	8	1683	c.1611C>T	c.(1609-1611)tgC>tgT	p.C537C	GSTCD_uc003hxy.4_Silent_p.C450C|GSTCD_uc011cfb.2_Silent_p.C160C	NM_001031720	NP_001026890	Q8NEC7	GSTCD_HUMAN	Homo sapiens glutathione S-transferase, C-terminal domain containing (GSTCD), transcript variant 1, mRNA.	537						cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TCGTCACATGCCCTTGCTGTT	0.428000														73			43		0	0	0.000589545	0	0
GRIN2B	2904	broad.mit.edu	37	12	13769424	13769424	+	Silent	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr12:13769424C>T	uc001rbt.2	-	4	1472	c.1293G>A	c.(1291-1293)agG>agA	p.R431R		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	431					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding	p.R431S(2)		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)	GGACTGTGTTCCTCATGCAGG	0.517000														62			18		0	0	9.7654e-05	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		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(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				89			132		0	0	0.000147903	0	0
CALB2	794	broad.mit.edu	37	16	71406091	71406091	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr16:71406091T>G	uc002faa.4	+	1	210	c.130T>G	c.(130-132)Ttt>Gtt	p.F44V	CALB2_uc010vme.2_Non-coding_Transcript|CALB2_uc002fac.4_Missense_Mutation_p.F44V	NM_001740	NP_001731	P22676	CALB2_HUMAN	Homo sapiens calbindin 2 (CALB2), transcript variant CALB2, mRNA.	44	EF-hand 1.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				GCTAGAAAACTTTTTCCAAGA	0.463000														56			6		0	0	3.59834e-05	0	0
DGKB	1607	broad.mit.edu	37	7	14613968	14613968	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr7:14613968G>A	uc003ssz.3	-	18	1829	c.1642C>T	c.(1642-1644)Cta>Tta	p.L548L	DGKB_uc011jxt.2_Silent_p.L529L|DGKB_uc003sta.3_Silent_p.L548L|DGKB_uc011jxu.2_Silent_p.L547L	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	548	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	ATGTCTTTTAGAATTTTCATC	0.353000														94			59		0	0	0.000147903	0	0
GLUD2	2747	broad.mit.edu	37	X	120182675	120182675	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:120182675G>A	uc004eto.3	+	0	1214	c.1137G>A	c.(1135-1137)ctG>ctA	p.L379L		NM_012084	NP_036216	P49448	DHE4_HUMAN	Homo sapiens glutamate dehydrogenase 2 (GLUD2), nuclear gene encoding mitochondrial protein, mRNA.	379					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)	GTGACATACTGATCCCAGCTG	0.507000														142			83		0	0	0.000147903	0	0
DNAH5	1767	broad.mit.edu	37	5	13754372	13754372	+	Missense_Mutation	SNP	C	T	T	rs148592658		TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr5:13754372C>T	uc003jfd.2	-	61	10537	c.10495G>A	c.(10495-10497)Gaa>Aaa	p.E3499K	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3499					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E3499K(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTTCTTTTTCACCTGCCAAG	0.413000									Kartagener syndrome					70			45		0	0	0.000147903	0	0
IL2RB	3560	broad.mit.edu	37	22	37528505	37528505	+	Silent	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr22:37528505C>T	uc003aqv.1	-	8	953	c.822G>A	c.(820-822)ctG>ctA	p.L274L		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	274					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGACCTTCTTCAGCCTGGACA	0.617000														17			9		0	0	0.000442599	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904694	144904694	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:144904694G>A	uc022cfn.1	+	0	751	c.751G>A	c.(751-753)Ggg>Agg	p.G251R	SLITRK2_uc004fcd.3_Missense_Mutation_p.G251R|SLITRK2_uc010nsp.3_Missense_Mutation_p.G251R|SLITRK2_uc010nso.3_Missense_Mutation_p.G251R|SLITRK2_uc011mwq.2_Missense_Mutation_p.G251R|SLITRK2_uc011mwr.2_Missense_Mutation_p.G251R|SLITRK2_uc011mws.2_Missense_Mutation_p.G251R|SLITRK2_uc004fcg.3_Missense_Mutation_p.G251R|SLITRK2_uc011mwt.2_Missense_Mutation_p.G251R	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.	251	LRRCT 1.					integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TAGGTTGCATGGGAAAGACGT	0.512000														73			35		0	0	0.000374591	0	0
TMEM132A	54972	broad.mit.edu	37	11	60702113	60702113	+	Silent	SNP	C	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr11:60702113C>A	uc001nqi.3	+	8	1909	c.1716C>A	c.(1714-1716)ccC>ccA	p.P572P	TMEM132A_uc001nqj.3_Silent_p.P571P	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	571						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TGCTTGGCCCCGACTGGCTGC	0.741000														11			9		1.76689e-08	4.07596e-07	0.000442599	1	0
DNAJC5	80331	broad.mit.edu	37	20	62560693	62560693	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr20:62560693A>T	uc002yhf.3	+	2	369	c.136A>T	c.(136-138)Aag>Tag	p.K46*	DNAJC5_uc002yhh.3_Non-coding_Transcript	NM_025219	NP_079495	Q9H3Z4	DNJC5_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 (DNAJC5), mRNA.	46	J.				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding	p.D45N(1)		cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TCACCCCGACAAGAACCCCGA	0.567000														19			8		0	0	0.000442599	0	0
ETV6	2120	broad.mit.edu	37	12	12022474	12022474	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr12:12022474C>T	uc001qzz.3	+	4	854	c.580C>T	c.(580-582)Cct>Tct	p.P194S	ETV6_uc001raa.1_5'UTR	NM_001987	NP_001978	P41212	ETV6_HUMAN	Homo sapiens ets variant 6 (ETV6), mRNA.	194						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CCGGCCTTCTCCTGACCCCGA	0.637000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""									172			53		0	0	0.000147903	0	0
MYO18B	84700	broad.mit.edu	37	22	26228956	26228956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr22:26228956C>T	uc003abz.1	+	15	3302	c.3052C>T	c.(3052-3054)Ccc>Tcc	p.P1018S	MYO18B_uc003aca.1_Missense_Mutation_p.P899S|MYO18B_uc010guy.1_Missense_Mutation_p.P899S|MYO18B_uc010guz.1_Missense_Mutation_p.P899S|MYO18B_uc011aka.1_Missense_Mutation_p.P172S|MYO18B_uc011akb.1_Missense_Mutation_p.P531S	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1018	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGATCAAAATCCCTCTCAGGT	0.502000														46			14		0	0	0.000422831	0	0
SLIT2	9353	broad.mit.edu	37	4	20591354	20591354	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr4:20591354G>A	uc003gpr.1	+	29	3380	c.3176G>A	c.(3175-3177)gGa>gAa	p.G1059E	SLIT2_uc003gps.1_Missense_Mutation_p.G1051E	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1059	EGF-like 4.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACTCCAAAGGGATTCAAGTAA	0.502000														40			17		0	0	7.07596e-05	0	0
SATB2	23314	broad.mit.edu	37	2	200136952	200136952	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:200136952G>A	uc002uuy.2	-	10	3001	c.2184C>T	c.(2182-2184)gcC>gcT	p.A728A	SATB2_uc010fsq.2_Silent_p.A610A|SATB2_uc002uva.2_Silent_p.A728A|SATB2_uc002uuz.2_Silent_p.A728A	NM_001172509	NP_056080	Q9UPW6	SATB2_HUMAN	Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA.	728						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGTCAATTTCGGCAGGTGCTG	0.443000														86			56		0	0	0.000147903	0	0
RELN	5649	broad.mit.edu	37	7	103322669	103322669	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr7:103322669C>T	uc022ajr.1	-	10	1343	c.1183G>A	c.(1183-1185)Gga>Aga	p.G395R	RELN_uc022ajq.1_Missense_Mutation_p.G395R|RELN_uc010liz.3_Missense_Mutation_p.G395R	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	395					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCTTCATTTCCATGGAAATAA	0.453000														84			44		0	0	0.000147903	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37964165	37964165	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr22:37964165C>T	uc003asz.4	+	2	917	c.514C>T	c.(514-516)Ccg>Tcg	p.P172S		NM_152243	NP_689449	Q00587	BORG5_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 1 (CDC42EP1), mRNA.	172					positive regulation of pseudopodium assembly|regulation of cell shape	Golgi apparatus|actin cytoskeleton|endomembrane system|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CTCGGAAAAGCCGCATGACCG	0.642000														65			23		0	0	0.00047179	0	0
CACNA1D	776	broad.mit.edu	37	3	53785881	53785881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:53785881G>A	uc003dgv.4	+	27	3785	c.3622G>A	c.(3622-3624)Gaa>Aaa	p.E1208K	CACNA1D_uc003dgu.4_Missense_Mutation_p.E1228K|CACNA1D_uc003dgy.4_Missense_Mutation_p.E1208K|CACNA1D_uc003dgw.4_Missense_Mutation_p.E875K|CACNA1D_uc003dgx.1_Missense_Mutation_p.E356K	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1208					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TTCGCCTTTCGAATACATGAT	0.507000														148			88		0	0	0.000147903	0	0
NOX1	27035	broad.mit.edu	37	X	100125713	100125713	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:100125713G>A	uc004egj.3	-	1	342	c.136C>T	c.(136-138)Ctt>Ttt	p.L46F	NOX1_uc004egl.4_Missense_Mutation_p.L46F|NOX1_uc010nne.3_Missense_Mutation_p.L46F	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	46					FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	NADPH oxidase complex|cell junction|early endosome|invadopodium membrane	Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						CTCACCCCAAGGATTTTTCTT	0.423000														99			55		0	0	0.000147903	0	0
C6	729	broad.mit.edu	37	5	41149459	41149459	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr5:41149459G>A	uc003jmk.2	-	16	2717	c.2507C>T	c.(2506-2508)tCc>tTc	p.S836F	C6_uc003jml.1_Missense_Mutation_p.S836F	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	836	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GTCTTGGCAGGAACCAATATG	0.423000														89			57		0	0	0.000147903	0	0
BAI1	575	broad.mit.edu	37	8	143562671	143562671	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr8:143562671C>T	uc003ywm.3	+	8	2068	c.1885C>T	c.(1885-1887)Ccc>Tcc	p.P629S		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	629					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)					CTGGGAGCCCCCCACCTACAT	0.622000														52			18		0	0	0.00047179	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47123728	47123728	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr17:47123728C>T	uc002iom.3	+	13	1968	c.1634C>T	c.(1633-1635)gCc>gTc	p.A545V	IGF2BP1_uc010dbj.3_Missense_Mutation_p.A406V	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	545	KH 4.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CATTTCTATGCCAGTCAGGTA	0.522000														15			7		0	0	0.000157383	0	0
EGFLAM	133584	broad.mit.edu	37	5	38407088	38407088	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr5:38407088G>A	uc003jlc.2	+	7	1333	c.987G>A	c.(985-987)caG>caA	p.Q329Q	EGFLAM_uc003jlb.2_Silent_p.Q329Q|EGFLAM_uc003jle.2_Silent_p.Q95Q|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	329						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TTCCCATACAGAGAAAGGGGA	0.498000														45			25		0	0	9.22233e-05	0	0
KIF4A	24137	broad.mit.edu	37	X	69594073	69594073	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:69594073C>T	uc004dyg.3	+	15	1890	c.1747C>T	c.(1747-1749)Cag>Tag	p.Q583*	KIF4A_uc010nkw.3_Nonsense_Mutation_p.Q583*|KIF4A_uc004dyf.2_Nonsense_Mutation_p.Q583*	NM_012310	NP_036442	O95239	KIF4A_HUMAN	Homo sapiens kinesin family member 4A (KIF4A), mRNA.	583					anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TCTTGAACTTCAGACAGCAAA	0.353000														68			32		0	0	0.00058488	0	0
SCN4A	6329	broad.mit.edu	37	17	62043901	62043901	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr17:62043901T>C	uc002jds.1	-	6	1117	c.1040A>G	c.(1039-1041)aAc>aGc	p.N347S		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	347					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GAAGTAGAAGTTCCCTTTGGG	0.582000														5			9		0	0	0.000442599	0	0
OR10J1	26476	broad.mit.edu	37	1	159410164	159410164	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:159410164G>A	uc010piv.2	+	0	653	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	206					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CACTGTCAATGAAATCCTGAC	0.438000														57			43		0	0	0.000147903	0	0
WDR82	80335	broad.mit.edu	37	3	52293245	52293245	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:52293245G>A	uc003ddl.2	-	6	1019	c.737C>T	c.(736-738)tCa>tTa	p.S246L	WDR82_uc003ddk.2_Missense_Mutation_p.S171L	NM_025222	NP_079498	Q6UXN9	WDR82_HUMAN	Homo sapiens WD repeat domain 82 (WDR82), mRNA.	246					histone H3-K4 methylation	PTW/PP1 phosphatase complex|Set1C/COMPASS complex|chromatin	protein binding								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TGGAGTAAATGAAGCCTCCAG	0.378000														66			34		0	0	0.000374591	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104440227	104440227	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:104440227G>A	uc004elz.1	+	2	909	c.153G>A	c.(151-153)gtG>gtA	p.V51V		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	51	Ig-like C2-type 1.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	p.R50*(1)|p.V51E(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAGTCCGAGTGAAATGTGCCC	0.448000														74			38		0	0	0.000191422	0	0
TRIM10	10107	broad.mit.edu	37	6	30128513	30128513	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr6:30128513G>A	uc003npo.3	-	0	199	c.123C>T	c.(121-123)acC>acT	p.T41T	TRIM10_uc003npn.2_Silent_p.T41T|TRIM15_uc010jrx.3_5'Flank	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	41						cytoplasm	zinc ion binding			ovary(1)	1						CACAGTAGCGGGTAAGGCAGG	0.622000														83			52		0	0	0.000147903	0	0
ATXN7L3	56970	broad.mit.edu	37	17	42275028	42275028	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr17:42275028C>A	uc002iga.3	-	1	213	c.122G>T	c.(121-123)cGg>cTg	p.R41L	ATXN7L3_uc010wiv.2_5'Flank|ATXN7L3_uc002ifz.3_Missense_Mutation_p.R41L	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN	Homo sapiens ataxin 7-like 3 (ATXN7L3), transcript variant 2, mRNA.	41					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTTGACAGCCCGGTGTACCTC	0.552000														34			44		2.55665e-31	5.95216e-30	0.000147903	1	0
SPON1	10418	broad.mit.edu	37	11	14284396	14284396	+	Missense_Mutation	SNP	G	A	A	rs148033537	by1000genomes	TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr11:14284396G>A	uc001mle.3	+	15	2400	c.2132G>A	c.(2131-2133)cGa>cAa	p.R711Q		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	712	TSP type-1 5.				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)		ACTGTGCAGCGAAAAAAGTGC	0.547000														10			18		0	0	7.07596e-05	0	0
CAPN6	827	broad.mit.edu	37	X	110496399	110496399	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:110496399C>T	uc004epc.2	-	3	534	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	CAPN6_uc011msu.2_5'UTR	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	Homo sapiens calpain 6 (CAPN6), mRNA.	115	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	p.E115D(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GCGTATTTTTCTGTTTTTTGA	0.408000														70			25		0	0	0.000184323	0	0
OR13G1	441933	broad.mit.edu	37	1	247835593	247835593	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:247835593G>A	uc001idi.1	-	0	751	c.751C>T	c.(751-753)Cct>Tct	p.P251S		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S250Y(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TAGATTACAGGAGAATAGTAA	0.453000														39			6		0	0	0.000157383	0	0
SLC16A14	151473	broad.mit.edu	37	2	230910504	230910504	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:230910504G>A	uc002vqd.2	-	3	1797	c.1338C>T	c.(1336-1338)atC>atT	p.I446I	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Silent_p.I446I|SLC16A14_uc002vqf.3_Silent_p.I446I	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	446						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)		CATTAGCACAGATGATGATGC	0.473000														35			19		0	0	0.000295444	0	0
PSG8	440533	broad.mit.edu	37	19	43259372	43259372	+	Silent	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr19:43259372C>T	uc002ouo.2	-	3	854	c.756G>A	c.(754-756)agG>agA	p.R252R	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Silent_p.R252R|PSG8_uc010ein.3_Silent_p.R130R|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	252	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CCTTATTCTCCCTGGGTTTTA	0.488000														163			11		0	0	6.40141e-05	0	0
SDK1	221935	broad.mit.edu	37	7	4116640	4116640	+	Silent	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr7:4116640C>T	uc003smx.3	+	20	3160	c.3021C>T	c.(3019-3021)atC>atT	p.I1007I	SDK1_uc010kso.3_Silent_p.I283I	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1007	Fibronectin type-III 4.				cell adhesion	integral to membrane		p.Q1006H(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCTATCAGATCTCTTGGGAAG	0.552000														17			5		0	0	1.23904e-05	0	0
COL14A1	7373	broad.mit.edu	37	8	121293298	121293299	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr8:121293298_121293299GG>AA	uc003yox.3	+	31	4089	c.3824_splice	c.e31+1	p.R1275_splice	COL14A1_uc003yoz.3_Splice_Site_p.R240_splice	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1275	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAGCCAACCAGGTATGTTTCTG	0.391000														43			27		0	0	6.4e-05	0	0
TEC	7006	broad.mit.edu	37	4	48169925	48169925	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr4:48169925C>T	uc003gxz.3	-	6	632	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K		NM_003215	NP_003206	P42680	TEC_HUMAN	Homo sapiens tec protein tyrosine kinase (TEC), mRNA.	181	SH3.				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						ACGATTTCTTCACTATTATCT	0.383000														64			31		0	0	0.000491102	0	0
CAMK4	814	broad.mit.edu	37	5	110820041	110820041	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr5:110820041G>A	uc003kpf.3	+	10	1534	c.1299G>A	c.(1297-1299)gaG>gaA	p.E433E	CAMK4_uc010jbv.3_Silent_p.E236E|CAMK4_uc003kpg.3_Silent_p.E124E	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	433					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TGGAACTAGAGGAGGGCCTAG	0.527000														15			16		0	0	0.000308642	0	0
IVL	3713	broad.mit.edu	37	1	152883848	152883848	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:152883848G>A	uc021ozl.1	+	0	1575	c.1575G>A	c.(1573-1575)caG>caA	p.Q525Q	IVL_uc001fau.3_Silent_p.Q525Q	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	525	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			atctggagcagcaggaggggc	0.597000														9			4		0	0	0.00024832	0	0
ABCA13	154664	broad.mit.edu	37	7	48559846	48559846	+	Silent	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr7:48559846C>T	uc003toq.2	+	52	14031	c.14007C>T	c.(14005-14007)ctC>ctT	p.L4669L	ABCA13_uc010kys.1_Silent_p.L1744L|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Silent_p.L399L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4669					transport	integral to membrane	ATP binding|ATPase activity	p.L4668I(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAGTACTTCTCCTCTTGAGGG	0.522000														18			7		0	0	0.000274275	0	0
PLK2	10769	broad.mit.edu	37	5	57751514	57751514	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr5:57751514G>A	uc003jrn.3	-	10	1657	c.1477C>T	c.(1477-1479)Ccc>Tcc	p.P493S	PLK2_uc021xyx.1_Missense_Mutation_p.P479S	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA.	493					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TGCTCTTTGGGAATGCAATCA	0.498000														18			6		0	0	8.12818e-05	0	0
CNGB3	54714	broad.mit.edu	37	8	87679279	87679279	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr8:87679279G>A	uc003ydx.3	-	5	774	c.726C>T	c.(724-726)ttC>ttT	p.F242F	CNGB3_uc010maj.3_Silent_p.F104F	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	242					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TTTGATATGGGAAGACGAGGC	0.443000														45			35		0	0	0.000159656	0	0
C1orf150	148823	broad.mit.edu	37	1	247712498	247712498	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:247712498G>A	uc001idf.3	+	0	152	c.5G>A	c.(4-6)gGa>gAa	p.G2E	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Intron	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	2										breast(1)|large_intestine(2)|lung(10)|skin(2)	15	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GAAAAGATGGGAAATTATCTC	0.483000														35			8		0	0	3.86212e-05	0	0
SLC22A14	9389	broad.mit.edu	37	3	38350536	38350536	+	Silent	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:38350536C>T	uc003cib.2	+	3	940	c.867C>T	c.(865-867)atC>atT	p.I289I	SLC22A14_uc010hhc.1_Silent_p.I289I|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	289						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TGACAGGGATCGCCTACAGTC	0.567000														106			29		0	0	0.000279167	0	0
CDH10	1008	broad.mit.edu	37	5	24491716	24491716	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr5:24491716G>A	uc003jgr.2	-	10	2351	c.1845C>T	c.(1843-1845)atC>atT	p.I615I	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	615					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GGAGGATGGCGATCAAGGCCC	0.493000										HNSCC(23;0.051)				63			28		0	0	0.000339439	0	0
SGCG	6445	broad.mit.edu	37	13	23853509	23853509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr13:23853509G>A	uc001uom.2	+	4	552	c.397G>A	c.(397-399)Gta>Ata	p.V133I	SGCG_uc009zzv.2_Missense_Mutation_p.V133I|SGCG_uc009zzw.2_Missense_Mutation_p.V133I	NM_000231	NP_000222	Q13326	SGCG_HUMAN	Homo sapiens sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG), mRNA.	133					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		TCCCAAAATGGTAGAAGTCCA	0.388000														28			19		0	0	9.7654e-05	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413745	22413745	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr15:22413745G>A	uc001yuf.3	+	0	284	c.44G>A	c.(43-45)aGa>aAa	p.R15K	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		ATCTCCTACAGAGGCTGCATC	0.507000														43			29		0	0	0.000228196	0	0
KDR	3791	broad.mit.edu	37	4	55955863	55955863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr4:55955863G>A	uc003has.3	-	23	3601	c.3299C>T	c.(3298-3300)tCc>tTc	p.S1100F	KDR_uc003hat.1_Missense_Mutation_p.S1100F	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1100	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CTTACCTAAGGAAAATATTTC	0.413000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				114			58		0	0	0.000147903	0	0
WDR75	84128	broad.mit.edu	37	2	190338913	190338913	+	Splice_Site	SNP	T	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:190338913T>A	uc002uql.1	+	19	2110	c.2050_splice	c.e19-1	p.L684_splice	WDR75_uc002uqm.1_Splice_Site_p.L620_splice|WDR75_uc002uqn.1_Splice_Site_p.L462_splice	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	Homo sapiens WD repeat domain 75 (WDR75), mRNA.	684						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TCCTTAAAGCTGCTAGCAGAA	0.348000														92			44		0	0	0.000147903	0	0
KRT36	8689	broad.mit.edu	37	17	39643210	39643210	+	Silent	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr17:39643210C>T	uc002hwt.3	-	5	1200	c.1200G>A	c.(1198-1200)gaG>gaA	p.E400E		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	400	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				ACTTGCAGTCCTCTCCCTCCA	0.627000														14			13		0	0	0.00010058	0	0
FLNB	2317	broad.mit.edu	37	3	58084469	58084469	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:58084469G>A	uc003djj.2	+	7	1344	c.1179G>A	c.(1177-1179)gtG>gtA	p.V393V	FLNB_uc010hne.2_Silent_p.V393V|FLNB_uc003djk.2_Silent_p.V393V|FLNB_uc010hnf.2_Silent_p.V393V|FLNB_uc003djl.2_Silent_p.V224V|FLNB_uc003djm.2_Silent_p.V224V	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	393					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)		GTGTGGAGGTGGAAGATCCCC	0.537000														39			20		0	0	0.000175454	0	0
PRSS42	339906	broad.mit.edu	37	3	46874471	46874472	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:46874471_46874472CC>TT	uc011bap.2	-	2	596_597	c.596_597GG>AA	c.(595-597)agg>aAA	p.R199K	PRSS42_uc003cqj.3_Intron	NM_182702	NP_874361	Q7Z5A4	PRS42_HUMAN	Homo sapiens protease, serine, 42 (PRSS42), mRNA.	199	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.R199M(2)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						TCACCCAGCACCTGGTCCTACC	0.540000														49			29		0	0	6.4e-05	0	0
CCR3	1232	broad.mit.edu	37	3	46306838	46306838	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:46306838G>A	uc003cpl.2	+	2	1319	c.288G>A	c.(286-288)agG>agA	p.R96R	CCR3_uc003cpg.2_Silent_p.R63R|CCR3_uc003cpk.2_Silent_p.R84R|CCR3_uc003cpi.2_Silent_p.R63R|CCR3_uc010hjb.2_Silent_p.R81R|CCR3_uc003cpj.2_Silent_p.R63R|CCR3_uc021wwz.1_Silent_p.R63R	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	63					G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		TAAAATACAGGAGGCTCCGAA	0.547000														47			26		0	0	9.22233e-05	0	0
ZNF280C	55609	broad.mit.edu	37	X	129343677	129343677	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:129343677G>A	uc004evm.3	-	15	2195	c.1992C>T	c.(1990-1992)aaC>aaT	p.N664N		NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TACCTGGATGGTTGCTATGAG	0.313000														175			77		0	0	0.000147903	0	0
GSTCD	79807	broad.mit.edu	37	4	106766726	106766726	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr4:106766726C>G	uc003hxz.4	+	11	1966	c.1894C>G	c.(1894-1896)Ccc>Gcc	p.P632A	GSTCD_uc003hxy.4_Missense_Mutation_p.P545A|GSTCD_uc011cfb.2_Missense_Mutation_p.P255A	NM_001031720	NP_001026890	Q8NEC7	GSTCD_HUMAN	Homo sapiens glutathione S-transferase, C-terminal domain containing (GSTCD), transcript variant 1, mRNA.	632						cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TGTGGGAGTCCCCATTTAAAA	0.453000														28			17		0	0	0.000132079	0	0
MAP1A	4130	broad.mit.edu	37	15	43819242	43819242	+	Silent	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr15:43819242C>T	uc001zrt.3	+	3	6038	c.5571C>T	c.(5569-5571)ctC>ctT	p.L1857L		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1857						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CTGCACCCCTCTCCCCAGCTC	0.627000														10			11		0	0	3.86212e-05	0	0
TRPC6	7225	broad.mit.edu	37	11	101323826	101323826	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr11:101323826C>T	uc001pgk.4	-	12	3081	c.2656G>A	c.(2656-2658)Gaa>Aaa	p.E886K	TRPC6_uc009ywy.3_Missense_Mutation_p.E770K	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	886					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGCTTAATTTCCTTCAGTTCC	0.398000														53			45		0	0	0.000147903	0	0
LRRK1	79705	broad.mit.edu	37	15	101562674	101562674	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr15:101562674C>T	uc002bwr.3	+	14	2258	c.1939C>T	c.(1939-1941)Ccg>Tcg	p.P647S	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	647	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGTGGGTCCCCCGCGCCAGGG	0.592000														65			38		0	0	0.000509022	0	0
TRANK1	9881	broad.mit.edu	37	3	36873966	36873966	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:36873966C>T	uc003cgj.3	-	20	7224	c.6976G>A	c.(6976-6978)Gat>Aat	p.D2326N		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2326					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						CCCCTTTCATCCTTTTCAGAC	0.488000														128			29		0	0	0.00058488	0	0
C4orf37	285555	broad.mit.edu	37	4	98762046	98762046	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr4:98762046G>A	uc003htt.2	-	8	1172	c.1082C>T	c.(1081-1083)tCa>tTa	p.S361L		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	361										cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		CATCTCATATGATTTGTGAAC	0.358000														34			35		0	0	0.000191422	0	0
TBX15	6913	broad.mit.edu	37	1	119469221	119469221	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:119469221C>A	uc001ehl.1	-	2	430	c.115G>T	c.(115-117)Gcc>Tcc	p.A39S		NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	145						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		ACTCTCATGGCAGGAAACATC	0.403000														43			7		2.74318e-10	6.35713e-09	0.000442599	1	0
ERC1	23085	broad.mit.edu	37	12	1399136	1399136	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr12:1399136G>C	uc001qjb.2	+	14	2979	c.2738G>C	c.(2737-2739)cGg>cCg	p.R913P	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Missense_Mutation_p.R885P|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Non-coding_Transcript|ERC1_uc001qjf.2_Missense_Mutation_p.R913P|ERC1_uc010sdv.1_Missense_Mutation_p.R621P|ERC1_uc001qje.2_Non-coding_Transcript	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	913					I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ACTAATCTTCGGGCAGAGAGA	0.433000														74			31		0	0	0.000491102	0	0
SERPINB3	6317	broad.mit.edu	37	18	61323245	61323245	+	Silent	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr18:61323245C>T	uc002lji.3	-	7	963	c.819G>A	c.(817-819)caG>caA	p.Q273Q	SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Silent_p.Q221Q	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	273					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.L272L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CTCTCATATTCTGCAAACTTG	0.393000														22			24		0	0	0.000295444	0	0
CRB1	23418	broad.mit.edu	37	1	197396583	197396583	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:197396583G>A	uc001gtz.3	+	7	2338	c.2129_splice	c.e7-1	p.E710_splice	CRB1_uc010poz.2_Splice_Site_p.E641_splice|CRB1_uc009wza.3_Splice_Site_p.E598_splice|CRB1_uc010ppa.2_Splice_Site|CRB1_uc010ppb.2_Intron|CRB1_uc010ppc.1_Splice_Site|CRB1_uc010ppd.2_Splice_Site_p.E191_splice|CRB1_uc001gub.1_Splice_Site_p.E359_splice	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	710			E -> Q (in LCA8).		cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.?(2)		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						TGACATTGAAGAGTATGTGGC	0.413000														55			11		0	0	0.000219431	0	0
BIRC2	329	broad.mit.edu	37	11	102248425	102248425	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr11:102248425A>G	uc001pgy.3	+	6	2964	c.1565A>G	c.(1564-1566)aAc>aGc	p.N522S	BIRC2_uc010ruq.2_Missense_Mutation_p.N473S|BIRC2_uc010rur.2_Missense_Mutation_p.N522S	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	Homo sapiens baculoviral IAP repeat containing 2 (BIRC2), mRNA.	522	CARD.				cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		GCTGCGGCCAACATCTTCAAA	0.318000														50			14		0	0	0.000422831	0	0
MSR1	4481	broad.mit.edu	37	8	15967646	15967646	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr8:15967646C>T	uc010lsu.3	-	9	1422	c.1358G>A	c.(1357-1359)gGg>gAg	p.G453E	MSR1_uc003wwz.3_Missense_Mutation_p.G435E|MSR1_uc003wxa.3_Missense_Mutation_p.G372E	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	435					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GGCTCTTGTCCCCCATTGCCG	0.373000														53			36		0	0	0.000132358	0	0
ELMOD1	55531	broad.mit.edu	37	11	107501439	107501439	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr11:107501439G>A	uc010rvs.2	+	3	581	c.177G>A	c.(175-177)agG>agA	p.R59R	ELMOD1_uc001pjm.3_Silent_p.R59R|ELMOD1_uc010rvt.2_Silent_p.R53R	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	Homo sapiens ELMO/CED-12 domain containing 1 (ELMOD1), transcript variant 1, mRNA.	59					phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CATCACTGAGGGATTCTAAAA	0.308000														20			13		0	0	0.000566183	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617696	54617696	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr7:54617696G>A	uc022adk.1	+	3	872	c.467G>A	c.(466-468)aGa>aAa	p.R156K	VSTM2A_uc010kzf.3_Missense_Mutation_p.R156K	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	156						extracellular region		p.R155C(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			CATGCCCGCAGAATGCAGGCC	0.582000														5			6		0	0	3.59834e-05	0	0
OSBPL6	114880	broad.mit.edu	37	2	179255918	179255919	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:179255918_179255919CC>TT	uc002uly.3	+	22	3039_3040	c.2495_2496CC>TT	c.(2494-2496)ccc>cTT	p.P832L	MIR548N_uc021vsx.1_Intron|OSBPL6_uc002ulx.3_Missense_Mutation_p.P807L|OSBPL6_uc010zfe.2_Missense_Mutation_p.P776L|OSBPL6_uc002ulz.3_Missense_Mutation_p.P771L|OSBPL6_uc002uma.3_Missense_Mutation_p.P811L	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	807					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GGTGTGGCCCCCTCTGCAAAGT	0.535000														72			46		0	0	6.4e-05	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146681	70146681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr4:70146681C>T	uc003hej.3	+	0	465	c.463C>T	c.(463-465)Cct>Tct	p.P155S	UGT2B28_uc010ihr.3_Missense_Mutation_p.P155S	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	155					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.P155S(2)|p.F154C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TGCTTTTTTTCCTTGTGGTGA	0.383000														72			29		0	0	0.000339439	0	0
CYP11A1	1583	broad.mit.edu	37	15	74636194	74636194	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr15:74636194G>A	uc002axt.2	-	3	920	c.765C>T	c.(763-765)ttC>ttT	p.F255F	CYP11A1_uc002axs.2_Silent_p.F97F|CYP11A1_uc010bjm.1_Silent_p.F97F|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjp.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_Silent_p.F35F	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	255					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TGAACAGACGGAACAGGTCTG	0.562000														104			42		0	0	0.000147903	0	0
FAT3	120114	broad.mit.edu	37	11	92258086	92258086	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr11:92258086G>A	uc001pdj.4	+	1	3596	c.3579G>A	c.(3577-3579)caG>caA	p.Q1193Q		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1193	Cadherin 11.				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)				GAAATCCTCAGAATTTTTTTG	0.383000										TCGA Ovarian(4;0.039)				198			102		0	0	0.000147903	0	0
ANKS1A	23294	broad.mit.edu	37	6	34985594	34985594	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr6:34985594C>T	uc003ojx.4	+	10	1910	c.1768C>T	c.(1768-1770)Ccg>Tcg	p.P590S	ANKS1A_uc011dst.2_Missense_Mutation_p.P130S|ANKS1A_uc010jvp.2_Intron	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	590						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CACAGCATCTCCGCACCCTGG	0.622000														42			47		0	0	0.000147903	0	0
TIE1	7075	broad.mit.edu	37	1	43783252	43783252	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:43783252G>A	uc001ciu.3	+	15	2815	c.2638G>A	c.(2638-2640)Gac>Aac	p.D880N	TIE1_uc010oke.2_Missense_Mutation_p.D835N|TIE1_uc009vwq.3_Missense_Mutation_p.D836N|TIE1_uc010okg.2_Missense_Mutation_p.D525N	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	880	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCTGAAAATGACCATCGTGA	0.493000														201			78		0	0	0.000147903	0	0
OR14C36	127066	broad.mit.edu	37	1	248512089	248512089	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:248512089A>G	uc010pzl.2	+	0	13	c.13A>G	c.(13-15)Acc>Gcc	p.T5A		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GCCCAATTCAACCACCGTGAT	0.398000														28			19		0	0	0.000229342	0	0
BRAT1	221927	broad.mit.edu	37	7	2587019	2587019	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr7:2587019G>A	uc003smi.3	-	2	509	c.221C>T	c.(220-222)tCc>tTc	p.S74F	BRAT1_uc003smj.2_Missense_Mutation_p.S74F	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA.	74					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						CAGTGAGAAGGAGAGGACCCC	0.617000														19			14		0	0	0.000151284	0	0
TFDP2	7029	broad.mit.edu	37	3	141671826	141671827	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:141671826_141671827CC>AA	uc003eun.4	-	11	1537_1538	c.1083_1084GG>TT	c.(1081-1086)caggga>caTTga	p.361_362QG>H*	TFDP2_uc003euk.4_Nonsense_Mutation_p.333_334QG>H*|TFDP2_uc003eul.4_Nonsense_Mutation_p.301_302QG>H*|TFDP2_uc011bnf.2_Nonsense_Mutation_p.264_265QG>H*|TFDP2_uc011bng.2_Nonsense_Mutation_p.225_226QG>H*|TFDP2_uc003eum.4_Nonsense_Mutation_p.301_302QG>H*	NM_001178139	NP_001171613	Q14188	TFDP2_HUMAN	Homo sapiens transcription factor Dp-2 (E2F dimerization partner 2) (TFDP2), transcript variant 3, mRNA.	361					cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding	p.Q301H(1)		kidney(1)|upper_aerodigestive_tract(2)	3						AGAAGTAGTCCCTGATTTAACC	0.421000														72			6		0	0	6.4e-05	0	0
TRIM36	55521	broad.mit.edu	37	5	114473250	114473250	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr5:114473250C>T	uc003kqs.3	-	5	1440	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	TRIM36_uc011cwc.2_Missense_Mutation_p.E299K|TRIM36_uc003kqt.3_Missense_Mutation_p.E156K	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.	311						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TTCCTCTCTTCCAGAACTTCA	0.348000														47			58		0	0	0.000147903	0	0
OTOA	146183	broad.mit.edu	37	16	21734260	21734260	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr16:21734260C>T	uc002djh.3	+	16	1842	c.1841C>T	c.(1840-1842)tCc>tTc	p.S614F	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.S535F|OTOA_uc002dji.3_Missense_Mutation_p.S290F|OTOA_uc010vbk.2_Missense_Mutation_p.S262F	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	628					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)		TGGGAAGTTTCCAGATTGTCT	0.458000														30			24		0	0	0.000147802	0	0
TMEM95	339168	broad.mit.edu	37	17	7259218	7259218	+	Silent	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr17:7259218C>T	uc002ggg.1	+	2	315	c.288C>T	c.(286-288)ctC>ctT	p.L96L	TMEM95_uc002ggf.1_Silent_p.L96L|TMEM95_uc002ggh.1_Silent_p.L96L			Q3KNT9	TMM95_HUMAN	Homo sapiens transmembrane protein 95 (TMEM95), mRNA.	96						integral to membrane				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				AGACCAAGCTCCCTGAGTACA	0.557000											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			21		0	0	0.000229342	0	0
ENPP3	5169	broad.mit.edu	37	6	132006568	132006568	+	Silent	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr6:132006568C>T	uc003qcu.4	+	13	1532	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	ENPP3_uc003qcv.3_Silent_p.F395F|ENPP3_uc010kfq.3_Non-coding_Transcript	NM_005021	NP_005012	O14638	ENPP3_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA.	395	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GAATAAACTTCTTCTACATGT	0.363000														71			96		0	0	0.000147903	0	0
PLXNB1	5364	broad.mit.edu	37	3	48464220	48464220	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:48464220C>T	uc003csw.2	-	3	1514	c.1244G>A	c.(1243-1245)gGa>gAa	p.G415E	PLXNB1_uc003csu.2_Missense_Mutation_p.G415E|PLXNB1_uc003csx.2_Missense_Mutation_p.G415E|PLXNB1_uc010hjx.1_Non-coding_Transcript	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	415	Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GATGGTGTGTCCATCTTCCAT	0.607000														37			20		0	0	0.000229342	0	0
FAM149A	25854	broad.mit.edu	37	4	187088408	187088408	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr4:187088408T>A	uc003iyt.4	+	12	1946	c.1367T>A	c.(1366-1368)aTt>aAt	p.I456N	FAM149A_uc011cla.1_Missense_Mutation_p.I456N|FAM149A_uc010isl.3_Missense_Mutation_p.I456N|FAM149A_uc011clb.2_Missense_Mutation_p.I455N	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	Homo sapiens family with sequence similarity 149, member A (FAM149A), transcript variant 1, mRNA.	747										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GGTCAAAGTATTTTGACAGGT	0.378000														98			52		0	0	0.000147903	0	0
TYSND1	219743	broad.mit.edu	37	10	71905212	71905212	+	Silent	SNP	T	C	C			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr10:71905212T>C	uc001jqr.3	-	0	1285	c.1131A>G	c.(1129-1131)gaA>gaG	p.E377E	TYSND1_uc001jqq.3_Intron|TYSND1_uc001jqs.3_Silent_p.E377E|TYSND1_uc001jqt.3_Intron	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN	Homo sapiens trypsin domain containing 1 (TYSND1), transcript variant 1, mRNA.	377	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CCCTGGCTGCTTCCCGAGGGG	0.657000														4			7		0	0	0.000274275	0	0
KLK5	25818	broad.mit.edu	37	19	51452022	51452022	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr19:51452022G>A	uc002pue.3	-	5	818	c.600C>T	c.(598-600)ttC>ttT	p.F200F	KLK5_uc002puf.3_Silent_p.F200F|KLK5_uc002pug.3_Silent_p.F200F	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	200	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GGACCTTAGGGAAGTGCACTG	0.517000														18			35		0	0	0.000270559	0	0
SLC4A7	9497	broad.mit.edu	37	3	27431464	27431465	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:27431464_27431465CC>AA	uc011aww.2	-	21	3538_3539	c.3317_3318GG>TT	c.(3316-3318)tgg>tTT	p.W1106F	SLC4A7_uc011awx.2_Missense_Mutation_p.W1093F|SLC4A7_uc021wun.1_Missense_Mutation_p.W982F|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.W1089F|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Missense_Mutation_p.W978F|SLC4A7_uc011axb.2_Missense_Mutation_p.W1093F|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Missense_Mutation_p.W978F|SLC4A7_uc010hfl.3_Missense_Mutation_p.W647F|SLC4A7_uc003cdv.3_Missense_Mutation_p.W1097F|SLC4A7_uc003cdw.3_Missense_Mutation_p.W973F	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	1097						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						CTTTTATCACCCATAAAAGGAC	0.371000														224			9		0	0	6.4e-05	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45457234	45457234	+	RNA	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr12:45457234G>A	uc001rol.3	-	0		c.1961C>T								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		ATCAATGCTGGGAGTAATAGG	0.433000														7			8		0	0	0.000157383	0	0
OR52E2	119678	broad.mit.edu	37	11	5079889	5079889	+	Silent	SNP	C	T	T	rs148031312		TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr11:5079889C>T	uc010qyw.2	-	0	969	c.969G>A	c.(967-969)acG>acA	p.T323T		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	323					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		TTCAGAACCTCGTATGTATTA	0.318000														20			26		0	0	0.000227799	0	0
CCDC138	165055	broad.mit.edu	37	2	109489923	109489923	+	Silent	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:109489923C>T	uc002ten.1	+	13	1770	c.1710C>T	c.(1708-1710)ttC>ttT	p.F570F	CCDC138_uc002teo.1_Intron|CCDC138_uc002tep.1_Silent_p.F254F|CCDC138_uc010fjm.1_Intron	NM_144978	NP_659415	Q96M89	CC138_HUMAN	Homo sapiens coiled-coil domain containing 138 (CCDC138), mRNA.	570										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TGCAGCCTTTCCTGGAAGCCT	0.363000														112			41		0	0	0.000125731	0	0
ANKRD50	57182	broad.mit.edu	37	4	125593615	125593615	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr4:125593615G>A	uc010inw.3	-	3	1855	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	ANKRD50_uc011cgo.2_Missense_Mutation_p.R94C	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	273								p.R273H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TGATCTAAACGATGAAGAATG	0.363000														13			14		0	0	0.000219431	0	0
DNAH5	1767	broad.mit.edu	37	5	13721200	13721201	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr5:13721200_13721201CC>AA	uc003jfd.2	-	70	12229_12230	c.12187_12188GG>TT	c.(12187-12189)ggg>TTg	p.G4063L	DNAH5_uc003jfc.2_Missense_Mutation_p.G231L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4063	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G4063G(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TAATCTCTTCCCCAAGGCAATG	0.525000									Kartagener syndrome					85			6		0	0	6.4e-05	0	0
TRIM33	51592	broad.mit.edu	37	1	114940389	114940389	+	Silent	SNP	A	G	G			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:114940389A>G	uc001eew.3	-	19	3349	c.3265T>C	c.(3265-3267)Ttg>Ctg	p.L1089L	TRIM33_uc010owr.2_Silent_p.L703L|TRIM33_uc010ows.2_Silent_p.L721L|TRIM33_uc001eex.3_Silent_p.L1072L	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	Homo sapiens tripartite motif containing 33 (TRIM33), transcript variant a, mRNA.	1089					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|R-SMAD binding|co-SMAD binding|ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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)		AACTCTGGCAAAGGTGCGAAG	0.473000			T	RET	papillary thyroid									120			17		0	0	0.000422831	0	0
CCDC141	285025	broad.mit.edu	37	2	179730496	179730496	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:179730496C>T	uc002une.2	-	16	2840	c.2722G>A	c.(2722-2724)Gag>Aag	p.E908K	CCDC141_uc002unf.1_Missense_Mutation_p.E387K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	333							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ACACCCACCTCATTTATCTCG	0.522000														194			92		0	0	0.000147903	0	0
C9orf173	441476	broad.mit.edu	37	9	140146341	140146341	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr9:140146341G>A	uc004cmk.1	+	1	271	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	LOC100129722_uc022bqg.1_Intron|C9orf173_uc004cmj.1_Missense_Mutation_p.E88K|C9orf173_uc011meu.1_Non-coding_Transcript|C9orf173_uc010ncd.1_Non-coding_Transcript|C9orf173_uc004cml.1_Missense_Mutation_p.E87K|C9orf173_uc011mev.1_Missense_Mutation_p.E87K			Q8N7X2	CI173_HUMAN	Homo sapiens chromosome 9 open reading frame 173 (C9orf173), mRNA.	88										kidney(1)|large_intestine(1)|lung(5)|pancreas(1)	8						GACCCTGAGGGAACTATGTGA	0.637000														0			3		0	0	0.00024832	0	0
TLE3	7090	broad.mit.edu	37	15	70351115	70351115	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr15:70351115G>A	uc002asl.2	-	9	1121	c.820C>T	c.(820-822)Cct>Tct	p.P274S	TLE3_uc002ask.2_Missense_Mutation_p.P213S|TLE3_uc010ukd.1_Missense_Mutation_p.P262S|TLE3_uc010bil.1_Missense_Mutation_p.P269S|TLE3_uc002asn.2_Missense_Mutation_p.P269S|TLE3_uc002asm.2_Missense_Mutation_p.P269S|TLE3_uc002asp.2_Missense_Mutation_p.P269S|TLE3_uc002aso.2_Missense_Mutation_p.P269S	NM_001105192	NP_001098662	Q04726	TLE3_HUMAN	Homo sapiens transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) (TLE3), transcript variant 2, mRNA.	269	Pro/Ser-rich.				Wnt receptor signaling pathway|organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCATTTTCAGGAGGGGAGTGT	0.602000														16			10		0	0	6.40141e-05	0	0
NAALADL1	10004	broad.mit.edu	37	11	64825928	64825928	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr11:64825928G>A	uc001ocn.3	-	0	82	c.66C>T	c.(64-66)atC>atT	p.I22I	NAALADL1_uc010rnw.2_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	22					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						AGTGGCCGAGGATGATCCCCA	0.642000														16			12		0	0	0.00010058	0	0
TRIOBP	11078	broad.mit.edu	37	22	38154108	38154108	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr22:38154108G>A	uc003atr.3	+	15	6447	c.6176G>A	c.(6175-6177)gGg>gAg	p.G2059E	TRIOBP_uc003atu.3_Missense_Mutation_p.G1887E|TRIOBP_uc003atv.3_Missense_Mutation_p.G346E|TRIOBP_uc003atw.3_Missense_Mutation_p.G346E|TRIOBP_uc003atx.1_5'UTR|TRIOBP_uc010gxh.3_5'UTR	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	2059					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAGCGCCGAGGGCCCCCAAGT	0.662000														10			12		0	0	7.07596e-05	0	0
ITGB4	3691	broad.mit.edu	37	17	73729654	73729654	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr17:73729654C>T	uc002jpg.3	+	12	1725	c.1538C>T	c.(1537-1539)tCc>tTc	p.S513F	ITGB4_uc002jph.3_Missense_Mutation_p.S513F|ITGB4_uc010dgo.3_Missense_Mutation_p.S513F|ITGB4_uc002jpi.4_Missense_Mutation_p.S513F|ITGB4_uc010dgp.1_Missense_Mutation_p.S513F|ITGB4_uc002jpj.3_Missense_Mutation_p.S513F|ITGB4_uc010wsh.1_Missense_Mutation_p.S68F	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	513	Cysteine-rich tandem repeats.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAGCCGTGCTCCGGCCGTGGG	0.637000														8			19		0	0	0.000375601	0	0
CASS4	57091	broad.mit.edu	37	20	55012536	55012536	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr20:55012536G>A	uc002xxp.2	+	2	578	c.353G>A	c.(352-354)aGt>aAt	p.S118N	CASS4_uc002xxq.4_Missense_Mutation_p.S118N|CASS4_uc010zze.1_Intron|CASS4_uc002xxr.2_Missense_Mutation_p.S118N|CASS4_uc010gio.2_Missense_Mutation_p.S118N	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	118					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CAGATGAGGAGTTGGGCGGAG	0.597000														51			28		0	0	0.000339439	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435740	7435740	+	Silent	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr4:7435740C>T	uc011bwj.2	-	0	961	c.867G>A	c.(865-867)aaG>aaA	p.K289K	SORCS2_uc003gkb.4_Intron|SORCS2_uc011bwi.2_Intron	NM_001085382	NP_001078851	Q6NUJ1	SAPL1_HUMAN	Homo sapiens prosaposin-like 1 (gene/pseudogene) (PSAPL1), mRNA.	289					sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						TCACACCGGCCTTCATCTGCA	0.597000														28			20		0	0	9.7654e-05	0	0
SDC2	6383	broad.mit.edu	37	8	97621634	97621634	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr8:97621634T>C	uc003yhv.1	+	4	1082	c.464T>C	c.(463-465)aTt>aCt	p.I155T	SDC2_uc011lgu.1_Missense_Mutation_p.I126T	NM_002998	NP_002989	P34741	SDC2_HUMAN	Homo sapiens syndecan 2 (SDC2), mRNA.	155						integral to plasma membrane	PDZ domain binding|cytoskeletal protein binding			breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	GGTGGAGTTATTGGCTTTCTC	0.403000														86			37		0	0	0.000147903	0	0
IL37	27178	broad.mit.edu	37	2	113675351	113675351	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:113675351G>A	uc002tij.3	+	3	447	c.405G>A	c.(403-405)ctG>ctA	p.L135L	IL37_uc002tim.3_Silent_p.L74L|IL37_uc002tik.3_Silent_p.L114L|IL37_uc002til.3_Silent_p.L95L|IL37_uc002tin.3_Silent_p.L109L	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA.	135					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						CCCTTCAGCTGAAGGTGAGAG	0.483000														53			46		0	0	0.000147903	0	0
CDH10	1008	broad.mit.edu	37	5	24509771	24509771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr5:24509771G>A	uc003jgr.2	-	6	1666	c.1160C>T	c.(1159-1161)tCc>tTc	p.S387F	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	387	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CAGATAGGAGGACCTACTAAA	0.393000										HNSCC(23;0.051)				34			20		0	0	0.000229342	0	0
TERT	7015	broad.mit.edu	37	5	1272354	1272354	+	Silent	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr5:1272354G>A	uc003jcb.1	-	6	2386	c.2328C>T	c.(2326-2328)ttC>ttT	p.F776F	TERT_uc003jbz.1_Intron|TERT_uc003jcc.1_Silent_p.F776F|TERT_uc003jca.1_Silent_p.F764F|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	776	Reverse transcriptase.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGTGAGCCACGAACTGTCGCA	0.657000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					12			8		0	0	0.000442599	0	0
PADI3	51702	broad.mit.edu	37	1	17599926	17599926	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:17599926C>T	uc001bai.3	+	9	1179	c.1139C>T	c.(1138-1140)cCt>cTt	p.P380L		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	380					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CAGGATTTCCCTTACAAAAGA	0.622000														31			8		0	0	0.000274275	0	0
CCDC30	728621	broad.mit.edu	37	1	43021909	43021909	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:43021909G>A	uc009vwk.1	+	4	618	c.508G>A	c.(508-510)Gag>Aag	p.E170K	CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Intron|CCDC30_uc010oju.1_Non-coding_Transcript|CCDC30_uc001chp.3_Intron	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	170										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GGGGCAGAAGGAGGAGGGCTC	0.438000														45			20		0	0	9.7654e-05	0	0
TRPV5	56302	broad.mit.edu	37	7	142626589	142626589	+	Missense_Mutation	SNP	C	T	T	rs35814608		TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr7:142626589C>T	uc003wby.1	-	3	685	c.421G>A	c.(421-423)Gcc>Acc	p.A141T	TRPV5_uc003wbz.3_Missense_Mutation_p.A141T	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	141					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)					GAGACACTGGCCCTGCGGGTG	0.602000														71			29		0	0	0.000109025	0	0
TMEM177	80775	broad.mit.edu	37	2	120438600	120438600	+	Silent	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr2:120438600C>T	uc021vnk.1	+	0	171	c.171C>T	c.(169-171)ctC>ctT	p.L57L	TMEM177_uc002tme.2_Intron|TMEM177_uc010flg.1_Silent_p.L57L|TMEM177_uc002tmc.1_Silent_p.L57L|TMEM177_uc002tmd.2_Silent_p.L57L|TMEM177_uc010flh.3_Silent_p.L57L	NM_030577	NP_085054	Q53S58	TM177_HUMAN	Homo sapiens transmembrane protein 177 (TMEM177), transcript variant 2, mRNA.	57						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CAGCTCCGCTCCCTCCACAGC	0.582000														97			45		0	0	0.000125731	0	0
SPNS2	124976	broad.mit.edu	37	17	4416546	4416547	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr17:4416546_4416547CC>TT	uc002fxx.2	+	1	589_590	c.375_376CC>TT	c.(373-378)gtcctt>gtTTtt	p.L126F		NM_001124758	NP_001118230	Q8IVW8	SPNS2_HUMAN	Homo sapiens spinster homolog 2 (Drosophila) (SPNS2), mRNA.	126					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						CTCCAGGCGTCCTTCTGGACAT	0.673000														24			29		0	0	6.4e-05	0	0
OR5H1	26341	broad.mit.edu	37	3	97851871	97851871	+	Silent	SNP	G	A	A	rs113686881		TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr3:97851871G>A	uc011bgt.2	+	0	330	c.330G>A	c.(328-330)acG>acA	p.T110T		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GTGTAACCACGGAATGTTTTC	0.408000														98			66		0	0	0.000147903	0	0
ARPC3	10094	broad.mit.edu	37	12	110883266	110883266	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr12:110883266G>A	uc001tqq.3	-	1	190	c.97C>T	c.(97-99)Ccc>Tcc	p.P33S		NM_005719	NP_005710	O15145	ARPC3_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 3, 21kDa (ARPC3), mRNA.	33					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			lung(1)|ovary(1)	2						CTCTCTCTGGGGGCAGGTCCT	0.403000														24			31		0	0	0.000409698	0	0
OR2M2	391194	broad.mit.edu	37	1	248344204	248344204	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr1:248344204G>A	uc010pzf.2	+	0	917	c.917G>A	c.(916-918)gGa>gAa	p.G306E		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G306V(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AAGATCTTAGGAAAGGGCAAG	0.398000														87			57		0	0	0.000147903	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515462	140515462	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr5:140515462G>A	uc003liq.3	+	0	663	c.446G>A	c.(445-447)gGg>gAg	p.G149E		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	149	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCAGCCAGGGACTGTGTTT	0.443000														21			34		0	0	0.000159656	0	0
CYP4F8	11283	broad.mit.edu	37	19	15739366	15739366	+	Silent	SNP	C	T	T			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr19:15739366C>T	uc002nbi.3	+	11	1336	c.1272C>T	c.(1270-1272)ttC>ttT	p.F424F	CYP4F8_uc010xoj.2_Silent_p.F237F	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	425					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	p.F424V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TCAACATCTTCGCAATCCATC	0.627000														152			8		0	0	6.40141e-05	0	0
SOX4	6659	broad.mit.edu	37	6	21595267	21595269	+	In_Frame_Del	DEL	GGC	-	-			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chr6:21595267_21595269delGGC	uc003ndi.3	+	0	1296_1298	c.502_504delGGC	c.(502-504)ggcdel	p.G173del		NM_003107	NP_003098	Q06945	SOX4_HUMAN	Homo sapiens SRY (sex determining region Y)-box 4 (SOX4), mRNA.	173					DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|T cell differentiation|canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development	mitochondrion|nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|core promoter sequence-specific DNA binding|protein binding			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			cggccatgggggcggcggcggcg	0.739													---	4	---	---	2	---					
TSIX	9383	broad.mit.edu	37	X	73043137	73043140	+	RNA	DEL	TTTC	-	-			TCGA-EE-A29X-06A-11D-A196-08	TCGA-EE-A29X-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc919c96-a1f6-430e-be76-581cae76f473	9c3d25af-4dda-422e-ae86-9a621a65706d	g.chrX:73043137_73043140delTTTC	uc004ebn.2	+	0		c.31098_31101delTTTC			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		AACTTGCAtttttctttctttttt	0.348													---	4	---	---	2	---